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ATLAS OF
CLINICAL DIAGNOSIS

Dedication
To the memory of my dear mother, TAJ, who said to me,
'Get knowledge from whoever has it, and give it freely to
anyone who asks for it, for learning is the noblest form of
begging'.

Commissioning Editor: Laurence Hunter
Project Development Manager: Sian Jarman
Project Manager: Nancy Arnott
Design Direction: Erik Bigland
Illustration Manager: Bruce Hogarth

ATLAS OF
CLINICAL DIAGNOSIS
M. Afzal Mir DCH FRCP
Former Senior Lecturer and Consultant Physician
University Hospital of Wales, Cardiff

SECOND EDITION

EDINBURGH

LONDON NEW YORK PHILADELPHIA ST LOUIS SYDNEY TORONTO 2003

SAUNDERS
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© 1 995 W.B. Sounders Company Limited
© 1999 Harcourt Publishers Limited
© 2003, Elsevier Science Limited. All rights reserved.
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asserted by him in accordance with the Copyright, Designs and Patents
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First published 1995
Second edition 2003
ISBN 0-7020-2668-9
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Notice
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must be followed, but as new research and clinical experience broaden
our knowledge, changes in treatment and drug therapy may become
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Preface

The traditional teaching of clinical medicine by the
bedside, by lectures, tutorials and through textbooks is
mainly system- and disease-oriented. Diseases are presented under their relevant system headings and all the
clinical manifestations, irrespective of their regional and
anatomical diversity, are presented under each disease.
This discipline of learning clinical medicine is contrary
to how it is practised in real life, where the history and
examination may have to be constructed on a single
symptom or an asymptomatic sign. The patient presents
with one or more symptoms and the examiner, during
history-taking and clinical examination, takes note of
various signs that are present and constructs a diagnosis
from these.
In this book I have endeavoured to mirror life and have
presented signs as they are likely to be seen on a visual
survey of a patient, starting at the face and moving down
step-by-step to the feet. A brief description of each disease
is given as the part of the body it affects is covered in
the sequence of the scalp-to-sole survey, and with each
mention of a condition a few more details are added. The
book explores the visual content of clinical medicine and
covers both pathognomonic and fundamental signs as well
as non-specific signs. These clinical features presented in
an anatomical context will, hopefully, offer an iterative
stimulus to the student's memory and thereby help the
retentive ability of the reader. Thus, this atlas presents the
synthesis of a clinical diagnosis from the features scattered
around the body and encourages the student to look for
these.
In this age of 'superspecialization', it is becoming
increasingly difficult for undergraduates as well as postgraduate students anywhere in the world to see the full
spectrum of clinical signs. The increasing demands on the
clinical curriculum from the advancing old specialities and
emerging new ones have reduced the time available to students to experience the full breadth of clinical medicine.
Today it is quite usual to find students graduating from
various medical schools in this and other countries with no
clinical instruction in, for example, dermatology, rheumatology or neurology! This problem is compounded by the
fact that many diseases are often treated early, more effectively and now, more often, in the community. There are
fewer opportunities for students to see the usual and less
common signs, and yet they are likely to be confronted
with these signs in examination and in their subsequent
clinical practice. In this book I have addressed this problem
by covering as much neurology, dermatology, rheumatol-

ogy and ophthalmology as may confront a hospital doctor
and a general practitioner. In addition to the colour pictures of the clinical signs of each condition presented here,
anatomical sketches and line diagrams have been included,
wherever appropriate, both to improve the understanding
of clinical features and to cover some important, but nonvisual signs.
This book presents a structured approach to clinical
diagnosis from a single sign, suggests other areas to look
at for relevant supplementary signs and, at appropriate
places, gives the critical 'chairside' tests to confirm a diagnosis. This approach makes some repetition inevitable, but
this has been kept to a minimum and the clinical signs have
been cross-referenced for easy revision.
When I started work on the first edition of this book
my main objective was to present a pictorial guide for
the inspection part of the clinical assessment. Some of
my well-wisher colleagues had expressed understandable
doubt about the success of such a venture in an age
when technology makes it possible to see the condition of
almost any internal organ. Contemporary clinical practice
tends to suggest that the budding clinician of today
would much rather get an ultrasound of the abdomen
than spend time at looking at its external contours. I felt
that my modest effort would at least serve those students
whose self-esteem would not allow them to dispense with
what their eyes could do before calling technology to their
aid. It is pleasing to note that in the UK and USA 12,000
copies have been sold and the book was translated into
seven languages. Bedside medicine is not dead after all! I
am grateful to all those who have found this book of some
use and have encouraged me to produce the second
edition.
In introducing some embellishments I have taken advice
mainly from students who have generously given their
comments to me. In the first edition, I had omitted the
legends because I thought that students would have a
chance to make their own observations before reading the
text to look for the diagnosis. I am told that it would be
preferable to have the legends giving the telling feature of
each picture, and that it would also help students to apply
appropriate descriptive terms. In addition to providing the
legends, I have made some amendments and additions to
the text. I have withdrawn seven pictures that were either
repetitive or unsatisfactory, replaced eight others with
those with more expressive visual content, and introduced
39 pictures with additional signs. I hope the students will
find these changes useful.

PREFACE

Once again I would like to thank all staff of the Media
Resource Centre, University of Wales College of Medicine,
for their continued cooperation in producing the images
shown in this book. I would like to thank my wife, Lynda,

who has always encouraged and helped me in these
ventures.
Cardiff

A.M.
2003

Acknowledgements
Although more than one-half of the illustrations used in
this book come from my personal collection, I needed help
from many other colleagues in covering the broad range
of clinical medicine, including some rare and unusual conditions. My largest source was the archives of the Department of Medical Illustrations and Audiovisual Services at
the University of Wales College of Medicine. I am grateful
to Professor Ralph Marshall who was the director of the
department and has now retired. My thanks also go to
Rachael Konten for helping me search for the appropriate
slides. I an indebted to Mrs Joe Dunlop-Rowles from the
Medical Illustration Department at the Cardiff Royal
Infirmary for providing me with the slides of some rare
conditions. I gratefully acknowledge the help and advice of
Dr Anne Freeman who read the entire manuscript at an
earlier stage. I am grateful to all those listed below who
have generously helped me by lending their slides and
giving me their valuable advice:
Professor M Addy (Bristol); Mrs L Beck (Cardiff); Mr K
Bellamy (Cardiff); Professor L K Borysiewicz (London);

Professor D A S Compston (Cambridge); Dr A C Douglas
(Edinburgh); Mrs J Dunlop-Rowles (Cardiff); Professor
G Elder (Cardiff); the late Mr R W Evans (Cardiff);
Professor A Y Finlay (Cardiff); Dr A Freeman (Cardiff);
Dr J G Graham (Cardiff); Dr M Hall (Cardiff); the late Professor R Hall (Cardiff); Professor L E Hughes (Cardiff);
Dr J D Jessop (Cardiff); Dr M K Jones (Swansea); Dr
A G Knight (Cardiff); Mrs R Konten (Cardiff); Mrs C
Lane (Cardiff); Professor J H Lazarus (Cardiff); Mr S
McAllister (Cardiff); Professor R Marks (Cardiff); Professor R J Marshall (Cardiff); Dr R Mattley (Cardiff);
Professor T S Maughan (Cardiff); Dr R Mills (Cardiff);
Professor D Owen (Cardiff); Mr M Puntis (Cardiff); Professor J Rhodes (Cardiff); Professor A K Saeed (Pakistan);
Professor M F Scanlon (Cardiff); Professor D J Shale
(Cardiff); Dr P Smith (Cardiff); Dr J M Stansbie (Coventry); Dr J P Thomas (Cardiff); Professor A P Weetman
(Sheffield); the late Dr C Wells (Cardiff); Dr J A Whittaker
(Cardiff); Professor M Wiles (Cardiff); Mr S Young
(Cardiff).

Contents
6 THE NECK

1 THE FACE 1
The visual scan 1
The apparently normal face 1
Abnormal facies 3
Endocrine facies 3
Neuromuscular facies 21
Skin and mucosal lesions 34
Miscellaneous facial disorders

•
The
The
The
The

•
The
The
The
The
The
The

•

7 THE CHEST 141

8 THE ABDOMEN

•

lips 69
gums and teeth 72
tongue 78
palate and pharynx 86

eyelids and orbit
conjunctiva 93
cornea 97
uveal tract 100
sclera 102
lens 103

89

9 THE HANDS

157

Arthropathies 157
Skin lesions 166
Dermatoses 167
Systemic disorders 173
Neuromuscular disorders 177
Additional signs of systemic disorders
Fundamental signs 190

183

89

•

1 0 THE NAILS 197

Disorders of the nails 198
Dermatological diseases 198
Congenital and systemic disorders

4 THE OPTIC FUNDUS

The normal fundus 106
The abnormal fundus 107
The optic disc 107
The retinal vessels 110
The retina and macula 119

5 THE EARS

151

60

2 THE MOUTH 69

3 THE EXTERNAL EYE

129

123

105

•

202

1 1 THE LEGS 215

Endocrine disorders 217
Locomotor problems 225
Neuromuscular disorders 232
Vascular and other systemic disorders
Skin lesions 244

INDEX 255

234

This page intentionally left blank

1

THE FACE

The visual scan
The face is the most revealing area of the body, showing
the features of its physical and psychological well-being
and disease. In no other part of the body can one find so
many signs of clinical disorders. Face-to-face contact is
often the first interaction with the patient and thus forms
an essential part of the clinical examination. Although
looking at someone's face is considered to be friendly,
staring is not. For this reason it is important to develop an
unobtrusive method of scanning a face that takes just a few
seconds. The objectives of this first look should be to
decide whether there is anything abnormal and whether a
further assessment is necessary. Although a detailed
scrutiny may be required to confirm an initial impression,
this should be broken into several brief sections thereby
covering the various subsections of the face, and recalling
the possible abnormalities associated with them (Tables
1.1 and 1.2).
At first sight one should establish eye contact and decide
whether the face and head look normal or whether there
are characteristic features suggestive of an endocrine, neuromuscular or a dermatological disorder.

The apparently normal
face
There are two situations when an apparently normallooking face has to be scrutinized carefully before accepting it as normal. First, from other circumstantial evidence

it may be suspected that the patient has a systemic disorder, in which facial abnormalities occur but none is obvious
at first sight. Second, one may be called upon to make a
'spot' diagnosis of a subtle abnormality, either in an
examination setting or on a clinical ward round.
It is a good habit to inspect the face in separate parts,
with the objective of excluding an abnormality from each
part. Thus, if from initial scanning of the eyes nothing
obvious is seen, all the individual structures that make up
the eyes should be scrutinized sequentially (see Table 1.1).
There may be a mild degree of ptosis or a heliotrope rash
on the upper eyelids (dermatomyositis); the eyelashes may
be sparse or absent (alopecia); there may be an arcus
around a part or whole of the cornea (normal in the
elderly, but possibly seen at an early age in diabetes
mellitus and hypercholesterolaemia); the cornea may be
opaque with a ground-glass appearance (congenital
syphilis); the sclerotics may be mildly icteric (haemolytic
or hepatic disorders), or may have a bluish tint (osteogenesis imperfecta); the pupils may be small, irregular, large
or asymmetrical; the lens may be opaque or dislocated
(Marfan's syndrome); the iris may have lost its distinct features ('muddy iris' in iritis); and the conjunctiva may be
dry (keratoconjunctivitis sicca), pale, particularly in the
gutterings (anaemia), icteric or congested (superior vena
caval obstruction, polycythaemia).
More detailed examples of the signs listed in Table 1.1
are given in relevant chapters. Suffice it here to say that
some of these abnormalities are hardly obvious unless
specifically looked for. For example, a mild degree of ptosis
with unequal pupils (1.1), a yellowish (1.2) or bluish tint to
the sclerotics (1.3), or even fairly obvious xanthelasmata
may all be missed unless the observer, however briefly,

1.1
Miosis (<2mm) and
partial ptosis of the left
eye
1.2
Yellow sclera

ATLAS OF CLINICAL DIAGNOSIS

Table 1.1 Substructure scrutiny of the eyes
Structures

Signs

Conditions

Eyelids

Ptosis, lid retraction, puffiness, heliotrope rash

Hemiparesis, myopathy, Graves' disease, allergy,
hypothyroidism, dermatomyositis

Eyelashes
Cornea

Sclera

Lens

Pupils
Iris

Conjunctiva

Scanty/absent

Alopecia

Calcification (band keratopathy)

Hyperparathyroidism

Arcus

Senescence, hypercholesterolaemia, diabetes mellitus

Opacity

Old keratitis, congenital syphilis

Yellowish

Jaundice

Bluish

Osteogenesis imperfecta

Opaque

Cataract from any cause

Dislocation

Marfan's syndrome

Unequal, small

Holmes-Adie, Argyll Robertson pupils, third cranial nerve palsy

Shimmering

Dislocated or absent lens

'Muddy'

Iritis

Pale

Anaemia, low perfusion state

Icteric

Jaundice

Congested

Conjunctivitis, polycythaemia rubra vera, superior vena cava
obstruction

1.3
Thin, blue sclerae

1.5
Left external rectus palsy

1.4
Xanthelasma

1.6
Droopy left side
1.7
Immobile left face

THE FACE

focuses on the eyes (1.4). Similarly, asymmetry of the eyeballs will be easily missed by an observer who does not
look at both eyes and follow the patient's gaze (1.5).
After inspecting the eyes, a purposeful glance over the
rest of the face will reveal any asymmetry, erythema,
scarring or plaques. A slight asymmetry of the face and
the angles of the mouth (1.6) may escape notice unless the
observer is looking for it. Some normal faces are asymmetrical and the temptation to diagnose a facial nerve
palsy should be resisted until the facial muscles are seen in
action (1.7).
The mouth should be viewed for circumoral wrinkling
(systemic sclerosis) and for the fine, angular wrinkling of
gonadotrophin failure. Angular cheilitis caused by dribbling from ill-fitting dentures or deficiency states of iron
or riboflavin may not be obvious unless specially looked
for. The inside of the mouth and the tongue should be
inspected for telangiectasia (Osler-Weber-Rendu syndrome), cyanosis and pigmentation (Addison's disease).
The whole face can be covered rapidly in this manner. In
most cases, having spotted an abnormality and formed an
initial impression, the examiner can carry out further
'chairside' clinical tests to confirm or refute the suspected
diagnosis.

Abnormal facies
If the face looks abnormal then a logical way to proceed
further would be to characterize the appearance so that it
can be placed in one of the four groups of abnormal facies
(Table 1.2).

Endocrine facies
Acromegaly
The face may show one or more of the many characteristic features associated with acromegaly (1.8). The patient
may have prominent and thickened supraorbital and
nuchal ridges, exaggerated wrinkles with thickened facial
features, a wide and fleshy nose, full and plump lips and a
large and protuberant lower jaw. Such a patient with
acromegaly may be hirsute with thickened and greasy
skin.
Alternatively, none of these features may be gross or
exaggerated: the subject may, for example, simply be a
well-built, burly rugby player or a boxer with rugged
features (1.9). A patient with Paget's disease (1.10) or

Table 1.2 Abnormal facies

Endocrine facies
Acromegaly
Cushing's syndrome
Graves' disease
Hypothyroidism
Addison's disease
Hypopituitarism
Pseudohypoparathyroidism

Neuromuscular facies
Ptosis
Ocular palsies
Proptosis
Pupillary abnormalities
Facial muscular atrophy/weakness

Skin and mucosal lesions
Dermatoses
Systemic disorders

Miscellaneous group
Characteristic facies not included in the
other groups (e.g. mongolism)
Enlargement or underdevelopment of an
area (e.g. Paget's disease, parotid swelling,
maxillary hypoplasia, etc.)

1.8
Fleshy, plump nose
and lips

1

ATLAS OF CLINICAL DIAGNOSIS

hypothyroidism may be mistaken, at first sight, as having
acromegaly. Occasionally, there may be one or more of the
characteristic features of acromegaly such as thickened
supraorbital ridges, a fleshy nose and thickened skin, as
seen in pachydermoperiostosis (1.11); in this case a false
impression of acromegaly may be formed. A side-view of
a patient with acromegaly (1.12), against that of a patient
of comparable age with pachydermoperiostosis (1.13), will
show that, in the former, the nose is not only bulkier but

1.9
Large but distinct
features

1.10
Prominent frontal
bones

1.11
Thickened skin with
indistinct folds
1.12
Large and rounded
contours of the nose
and ear

1.13
Pachydermoperiostosis:
distinct contours of
nose and ear

its contours are also rounded and the contours of the nose
and ear are less distinct than in the latter. As expected, the
lower jaw looks somewhat protuberant in the acromegalic
patient. Similarly, hypothyroidism with an increased softtissue mass (1.14) may cause confusion and further clinical tests may be required to distinguish the two. The
insulin-resistance syndrome with associated lipodystrophy
(1.15, 1.16), with or without acanthosis nigricans, may be
confused with acromegaly.

THE FACE

In HIV-associated lipodystrophy syndrome there is
lipoatrophy over the face and proximal muscles, and excessive deposition of subcutaneous fat around the neck
(buffalo hump), breast and abdomen (axial obesity). This

1

complication occurs in HIV patients treated with a protease inhibitor but the exact pathogenesis is unknown.

Clinical confirmation
To make the diagnosis in a patient with the characteristic
features, and to exclude it in a patient with some mimicking signs, particular attention should be paid to the patient's
history. They may have required progressively larger sizes
of shoes, hats, gloves and rings. This is a condition with a
variety of clinical features (1.17) that should be sought. The
patient should be asked if there is an old photograph
available for comparison. In this patient (1.18), the current
picture shows a striking contrast with the one taken at her
wedding. In addition, a few chairside clinical tests will be
required to make the clinical diagnosis.
When asked, patients often volunteer that their relatives
and close friends have noticed a major change in the size

1.14
Hypothyroidism:
large nose and
facial folds. Note a
noncommunicative
affect

1.15 and 1.16
Lipodystrophy:
prominent muscular
contours due to
deficient
subcutaneous fat

1

ATLAS OF CLINICAL DIAGNOSIS

of the patient's nose, which has gradually become bulkier
and fleshy (1.19). In some patients this is the only characteristic feature of acromegaly on the face (1.20). The lower
jaw gradually increases in size and becomes large, bulky
and overgrown, producing prognathism (1.21). The change
is so striking and arresting that the clinical diagnosis of
acromegaly is hardly in doubt (1.22).
Macroglossia is an accessible manifestation of visceromegaly in this disease. It can be demonstrated by
asking patients to protrude their tongue out as far as
possible. The acromegalic tongue (1.23) is thick and wide

1.17
Clinical features of
acromegaly

1.18
Before and after
acromegaly

and has lost its normal triangular shape (1.24). It fills nearly
the whole of the mouth and there is only a rim, or sometimes no space at all, between the tongue and the cutting
line of the upper teeth (1.23). When viewed in profile, such
a tongue (1.25) looks thicker and bulkier (1.26); it also
reaches far further down towards the chin, which itself is
longer than normal. The spaces between the teeth are also
increased. Although this appearance may also be seen in
lipodystrophy (1.27), and sometimes in normal subjects, a
steady increase of the spaces between the teeth is characteristic of acromegaly.

THE FACE

1

1.19
Large nose and thick
supraorbital ridges
1.20
Disproportionately
large nose
1.21
Overgrown lower
jaw

1.22
Large, fleshy lips
with prognathism
1.23
Large, square
tongue
1.24
Normal, triangular
tongue

1.25
Thickened, bulky
tongue
1.26
Normal tongue
1.27
Lipodystrophy

1

ATLAS OF CLINICAL DIAGNOSIS

Malocclusion of the teeth is by far the most reliable sign
and this can be demonstrated by asking patients to clench
their teeth. In an acromegalic patient, the lower teeth overbite the upper teeth owing to the prognathism of the lower
jaw (1.28, 1.29). A comparison between 1.27 and 1.28 will
demonstrate this.
Both the hands (1.30) and feet (1.31) are square, wide
and enlarged. The massive and spade-like hands and the
increased skin thickness are characteristic clinical signs of
acromegaly. All of these features can be assessed conve-

1.28
Overbiting lower
teeth

1.29
Prognathism

1.30
Normal and
acromegalic hands

1.31
Large, square feet

1.32
Acromegalic skin
fold

1.33
Normal skinfold

niently by inspection; in addition, a skinfold can be raised
on the back of the hand and then compared with that from
a normal subject of comparable age (1.32,1.33).
Visual field defects occur whenever the associated
pituitary tumour extends outside the pituitary fossa and
compresses the optic chiasma. The most commonly
encountered visual field defects are a bitemporal upper
quadrantanopia or a bitemporal hemianopia. These defects
can be demonstrated by the confrontation method at the
chairside (1.34,1.35).

THE FACE

The definitive diagnosis of acromegaly can be made by
demonstrating an elevated serum growth hormone level
that is not suppressed by the rising plasma glucose during
a glucose tolerance test. Single estimations of the hormone
are unreliable since growth hormone secretion is pulsatile
in short bursts.

Cushing's syndrome
Cushing's syndrome is easy to suspect but can be difficult
to diagnose, since the visible clinical signs of obesity, hirsutism, plethora, easy bruising and acne are all also very
common in the general population. Most patients referred
to endocrinologists with these features have simple
obesity. A careful look at some of the principal features
will enable the clinician to identify those patients who are
most likely to have Cushing's syndrome.

1

In a fully developed case, the most striking facial features are rounding of the face (moon face), plethora with
telangiectasis, hirsutism, loss of scalp hair, acne and pigmentation (1.36-1.38). Facial rounding and plethora are
usually present, even in milder cases where the disease
has not yet developed fully (1.39). These features are particularly striking in younger subjects (1.40). As in most
endocrine disorders, examination of an earlier photograph
can be useful. In this lady's current photograph (1.41, left)
there is a marked plethora and facial rounding compared
with that in the photograph taken 3 years earlier (1.41,
right). Increased fat deposition occurs in all the likely
fat depots, from the face to the buttocks. The obesity is
axial (like a lemon on matchsticks) owing to excessive fat
deposition in the supraclavicular fossae, over the back of
the neck (buffalo hump], the breasts, abdominal wall
and the buttocks, and from the relative wasting of the limb
muscles.

1.34
Testing peripheral
visual fields

1.35
Testing right
temporal visual field

1.36
Facial plethora

1.37
A rounded, moon
face and plethora

1.38
Moon face and
plethora

1

ATLAS OF CLINICAL DIAGNOSIS

10

1.39
Facial rounding and
plethora

1.40
Moon face Cushing's syndrome
1.41
After and before
Cushing's syndrome

Loss of scalp hair
Facial plethora
Acne, hirsutism

Moon face
Pigmentation

Supraclavicular pads
Underlying asthma
treated with steroids
Spinal osteoporosis
Bruising
Hypertension
Renal calculi
Pigmentation
of scars
Striae

Thin skin

Polyuria
Nocturia
Amenorrhoea

/

Proximal muscle
wasting and weakness

Venous thrombosis
Leg ulceration

Oedema

1.42
Clinical features of
Cushing's syndrome

1.42

THE FACE

1
11

Clinical confirmation
The initial impression can be changed into a firm clinical
diagnosis by seeking the characteristic clinical features
(1.42). Moderate obesity presents a major problem, not
only because it shares some of the characteristics with
Cushing's syndrome but also because most obese patients
insist that they have some 'gland' trouble! In simple
obesity, fat deposition does not spare the arms and thighs
(1.43) in comparison with Cushing's syndrome where thin
extremities appear in striking contrast with truncal obesity
(1.44). These characteristic differences between the
appearances of the two conditions can be appreciated

better with the frontal views of these partially undressed
patients (1.45,1.46). Both views provide an opportunity to
look for some additional features, such as the characteristic purple striae in Cushing's syndrome, caused by the
stretching of the thin, protein-depleted skin over rapidly
fattening areas. Apart from the abdomen (1.44, 1.46),
purple striae are also seen over the buttocks (1.47) and the
thighs (see also 11.38, 11.39). Hirsutism can be a marked
feature in some patients (1.48).
Fat deposition over the supraclavicular areas raises
banana-shaped folds, which look prominent in both the
frontal (1.49) and the lateral views (1.50). Unlike simple
obesity, fat deposition is excessive over the lower

1.43
Obesity
1.44
Axial obesity, thin
extremities and
striae
1.45
Simple obesity

1.46
Cushing's syndrome
with truncal obesity
and striae
1.47
Purple striae
1.48
Hirsutism with facial
plethora

ATLAS OF CLINICAL DIAGNOSIS

12

cervical vertebrae, giving the back a characteristic buffalo
hump appearance (1.51). This is also seen in the
pseudoCushing's syndrome of alcoholism (1.52). This
geographical predilection of fat deposition is characteristic of Cushing's syndrome (also occurs in HIV-associated
lipodystrophy syndrome, see p. 5) and is seen even in
younger subjects (1.53).

1.49
The adipose
'necklace' of
Cushing's syndrome

1.50
Supraclavicular
adipose deposits

1.51
Cushing's syndrome

1.52
PseudoCushing's
syndrome

1.53
latrogenic Cushing's
syndrome

1.54
Transparent and thin
skin with visible
underlying veins

1.55
Paper-thin skin folds

Two chairside tests are of particular importance and
should always be performed to complete the clinical assessment. First, the skin of patients with Cushing's syndrome is
paper-thin and transparent so that the underlying capillaries and veins look prominent, particularly in the antecubital fossa (1.54).This excessive thinning of the skin can be
demonstrated readily by compressing the antecubital fossa

THE FACE

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13

between the thumb and the middle finger, thereby raising
multiple thin and transparent skin folds (1.55). Similarly, it
can also be assessed by raising a skin fold on the back of
the patient's hand and comparing it (1.56) with that of a
normal hand (1.57). Second, proximal muscular weakness
commonly associated with Cushing's syndrome (caused by
muscle catabolism and compounded by hypokalaemia) can
be demonstrated by asking the patient to stand up from a
squatting position (1.58). Most patients with Cushing's syndrome are unable to do this without touching the floor
(1.59), their thighs (1.60) or any other prop.
Excessive bruising and ecchymoses are usually seen on
the back of the hands (1.61), shins and invariably on venesection sites (1.62).

The appearances of the various forms of Cushing's syndrome do not differ markedly from one another. A probing
history will be required to diagnose the pseudoCushing's
syndrome caused by alcoholism (1.63).
The distinctive facial appearances of Cushing's syndrome
(1.64) usually revert to normal after treatment (1.65).
The diagnosis of Cushing's disease (spontaneous hypercortisolism from excessive pituitary adrenocorticotrophic
hormone (ACTH) production) is confirmed by demonstrating hypercortisolism, loss of circadian rhythm of cortisol secretion, raised 24 h urinary free cortisol level, with
a modest elevation of ACTH concentration. Dynamic tests
are required to establish the aetiological diagnosis of
Cushing's syndrome.

1.56
Thin skinfold of
Cushing's syndrome
1.57
Normal skinfold

1.58
Attempting to stand
up
1.59 and 1.60
Needing a prop to
stand up

1.61
Spontaneous
bruising and
purpura
1.62
Postvenesection
bruising

1

ATLAS OF CLINICAL DIAGNOSIS

14

Groves7 disease
Graves' disease is essentially recognizable by its eye signs,
which direct one's attention to the other accompanying
features (1.66). Exophthalmos (proptosis), periorbital
swelling, upper lid retraction, chemosis and ophthalmopathy occur in various combinations. Proptosis, or the
forward, axial protrusion of the globe, results from enlarge-

1.63
Facial plethora in
pseudoCushing's
syndrome

1.64
Cushing's syndrome:
before treatment

1.65
Cushing's syndrome:
after treatment

1.66
Clinical features of
Graves' disease

1.67
Proptosis with
periorbital oedema

1.68
Axial protrusion of
the eyeball

1.69
Normal orbit

ment of the muscles and fat within the orbit. It is easy to
recognize, particularly when associated with other signs
such as periorbital oedema (1.67). Both these features are
better appreciated if the eye is inspected from the side
(1.68). Compared with the normal eye and the valleys
above and below it (1.69), the globe in exophthalmos looks
protuberant with puffed-up and discoloured skin around
it.

THE FACE

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15

Upper lid retraction is a common eye sign in Graves'
disease; it can be recognized by a rim of sclera, visible
between the lower margin of the upper lid and the cornea
in the relaxed position of forward gaze (1.70). Sometimes
the lid retraction is so marked that the eyelashes are buried
under the retracted lid (1.71). Chemosis (congestion of the
conjunctivae) frequently occurs in Graves' ophthalmopathy and often the medial caruncle is red and enlarged
(1.72).

Of the other clinical features, thyroid acropachy (1.73)
and pretibial myxoedema (1.74) are visually impressive.
The former resembles clubbing of the fingers (1.75) but,
unlike clubbing, the swelling is found more often around
and over the root of the nail and much less under the nail
bed (1.76). Onycholysis is sometimes seen when the nails
separate from the nail beds and become thin and discoloured (1.77). It also occurs in a variety of dermatological disorders, particularly in psoriasis (see The Nails).

1.70
Upper lid retraction
1.71
Lid retraction with
buried eyelashes
1.72
Enlarged medial
caruncle and
congestion

1.73
Acropachy
1.74
Pretibial myxoedema
1.75
Clubbing of the
fingers

1.76
Thyroid acropachy:
convex nails with
periungal swelling
1.77
Onycholysis

1

ATLAS OF CLINICAL DIAGNOSIS

16

Pretibial myxoedema is a localized violaceous induration
that usually occurs on the shins and, in many cases, appears
several months after a patient has been rendered euthyroid with surgery or radioiodine.

Clinical confirmation
A careful history is sufficient to establish the clinical
diagnosis in most cases with thyrotoxic fades. Loss of
weight despite a good appetite (with an increased dietary
intake], heat intolerance, irritability, restlessness, palpitations, diarrhoea and undue fatiguability are among the
usual presenting features. A few chairside Tests can be used
to confirm the clinical impression. The patient is usually
lightly clad, thin, nervous and fidgety. The hands are
warm and moist (cold and sweaty in simple anxiety) and,
when outstretched, exhibit a fine rhythmic tremor.
The resting pulse rate is rapid and there may be atrial
fibrillation.
Sometimes the thyroid gland is only slightly enlarged
and the patient may have to be given a sip of water to
swallow, in order to fully reveal the enlargement of an
upwardly moving gland. The bell of the stethoscope should
be placed lightly on the gland to listen for a bruit, which is
a reliable sign of increased vascularity and hyperactivity.
Lid retraction can be elicited by asking the patient to
follow the examiner's index finger as it moves slowly

1.78
Marked lid retraction

1.79
Lid lag

1.80
Unable to converge

1.81
The tethered left eye
fails to move up and
outwards

downwards. The upper lids lag behind the downwardly
moving eyeballs (1.78, 1.79). Exophthalmic ophthalmopathy can be demonstrated by revealing the inability of the
patient to converge his eyes (1.80) and to look up and
outwards (1.81).
Laboratory diagnosis can be made by demonstrating
an increased level of free serum T4 or T3, or both, and a
low thyroid-stimulating hormone (TSH) level by a sensitive assay. In difficult cases, the thyrotrophin-releasing
hormone (TRH) provocative test can be undertaken to
establish the diagnosis.

Hypothyroidism
The typical hypothyroid facies showing all the characteristic features (1.82) is easy to recognize but is seldom
encountered nowadays. The patient is usually excessively
clothed, mentally and physically slow, obese with nonpitting oedema of the legs and face, and has some of the characteristic facial features. There is often some degree of
periorbital oedema, thickening of the nose and lips, malar
flush with a yellowish tinge, sparse hair, and dull eyes with
noncommunicative looks (1.83). The example of advanced
myxoedema shown in 1.83 is seldom seen today. More
often patients have less profoundly affected facies (1.84)
and the diagnosis is made by a combination of a careful
history, physical examination and laboratory investigation.

THE FACE

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17

Clinical confirmation
The skin is cold, dry, pale, thick and inelastic, with the hair
being coarse and sparse (1.85). There is sometimes a
prominent malar flush when other features of myxoedema
are less striking (1.84,1.86). The patients are uninterested
in their surroundings and slow to respond to enquiries. The
patient's voice is thick and croaky, the pulse is slow and

the relaxation of the tendon jerks is slow, as demonstrated
easily on the ankle jerk. In an office situation this can be
tested by asking the patient to kneel on a chair (1.87). The
diagnosis should always be confirmed by laboratory investigations by demonstrating a low serum free T4 and elevated
TSH levels. A few cases are detected by laboratory methods
alone, usually by routine thyroid function tests requested
for patients attending a lipid or geriatric outpatient clinic.

1.82
Clinical features of
hypothyroidism

1.83
Myxoedema

1.84
Hypothyroidism:
malar flush

1.85
Hypothyroidism: hair
loss

1.86
Hypothyroidism:
malar flush and
noncommunicative
affect

1.87
Testing ankle jerk on
a kneeling leg

ATLAS OF CLINICAL DIAGNOSIS

18

Addison's disease
Unlike the endocrine disorders discussed so far, Addison's
disease and hypopituitarism do not produce strikingly
diagnosable facies. The diagnosis is suspected by the presence of other associated features (1.88) along with the
facial appearance. For example, pigmentation, the hallmark
of Addison's disease, may be racial, constitutional or the
result of some other disease (Table 1.3). Progressive darkening is more significant than long-standing pigmentation.
Clinical diagnosis can be established with a competent
history and physical examination.

Clinical confirmation
Although the symptoms of tiredness, dizziness, anorexia,
weight loss, cramps, depression, nausea and vomiting may
seem vague and nonspecific, they can be very meaningful
if considered together with the thin, apathetic and pigmented patient (1.89). Apart from the face, which looks
dark (1.90), marked pigmentation may also be found
on the exposed areas of the skin such as the fingers
(1.91), palmar creases (1.92), elbows (1.93) and around or

1.88
Clinical features of
Addison's disease

1.89
Loss of weight and
pigmentation

1.90
Pigmentation

Table 1.3 Some causes of hyperpigmentation
Localized
Freckles
Lentigines - Peutz-Jeghers syndrome
Chloasma
Cafe-au-lait spots - neurofibromatosis
Postinflammatory phenomenon

Generalized
Excessive melanocyte-stimulating hormone (MSH) or
adrenocorticotrophic hormone (ACTH)
Addison's disease
Nelson's syndrome (bilateral adrenalectomy for Cushing's
syndrome)
Ectopic ACTH
Malignancy
Chronic infections (especially tuberculosis)
Hyperthyroidism
Systemic sclerosis
Primary biliary cirrhosis
Haemochromatosis
Chronic arsenic poisoning

THE FACE

I•
19

in scars (1.94). The inside of the mouth should be examined for the presence of pigmentation on the gums and
buccal mucosa (1.95). There is often a loss of pubic hair in
females.
Laboratory diagnosis is made by demonstrating
impaired production of adrenal cortical hormones, principally cortisol. Plasma cortisol levels may be normal under
resting conditions but fail to rise after the administration
of ACTH. A short synacthen test can be performed as a
screening procedure on an ambulant patient.

Hypopituitarism
Many endocrinologists would admit that although the
facies of hypopituitarism have some distinct features, these
are often only appreciated if taken in conjunction with the
other clinical findings (1.96), or if the presence of an aetiological factor is suspected. The changes are often subtle
and their emergence into the eventual picture depends on
the degree of pituitary failure, the pattern of individual
hormone deficiencies and the underlying pathology.

1.91
Addison's disease:
hyperpigmentation
of the fingers

1.92
Dark palmar creases

1.93
Pigmented skin
creases

1.94
Pigmentation in and
around a scar

1.95
Pigmentation of the
buccal mucosa

1.96
Clinical features of
hypopituitarism

1

ATLAS OF CLINICAL DIAGNOSIS

20

Clinical confirmation
The face has an ageing, pale, waxy appearance (1.97), and
fine wrinkles can be seen at the angles of the mouth and
eyes (gonadotrophin failure) (1.98). Thyrotrophin deficiency adds its own features including dryness of the skin,
dull and lustreless eyes, neutral looks and sparse hair

1.97
Pale, waxy
complexion

1.98
Periorbital angular
wrinkling

1.99
Pituitary
hypothyroidism

1.100
Pale skin

1.101
Pinkish conjunctiva,
pale skin

1.102
Hypopituitarism with
loss of hair, gonadal
atrophy

(1.99), but these are seldom as gross as in primary thyroid
failure.
The pallor of the skin (1.100,1.101) is out of proportion
to the degree of the anaemia (haemoglobin usually about
10-11 g/dl), contrasting with the pinkish conjunctiva. The
nutritional state of the patient is good but there is generalized pallor, loss of hair and gonadal atrophy (1.102).

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21

In men, hair loss involves the chest (1.103) and the axillae
(1.104) and there is loss of pubic hair in both sexes. A closer
look shows empty follicle pits unassociated with any dermatological disorder (1.105).
Laboratory diagnosis is essential since the patient will
be committed to replacement therapy for life. The diagnostic work-up includes the measurement of end-organ
and pituitary hormones, their inadequate response to
insulin-induced hypoglycaemia and neuroanatomical
studies. Computerized tomography (CT) and magnetic
resonance imaging (MRI) scans are often necessary to
define the underlying disorder.

direction to any expression. All clinical assessments start
at the eyes of the patient even by those clinicians who
profess to begin their examination by looking at a patient's
hands! Physicians maintain eye contact with their
patients, not only to get behind their verbal and facial
expressions but also to look for any anatomical and functional abnormalities. Any abnormality in one part often
affects, and cannot be entirely separated from, the other
structures of the face.

7/ie eyes
Ptosis

Neuromuscular facies
Although facial expressions originate in the cerebral
cortex, their shape, substance and communicability depend
on the content and overall integrity of the anatomical
structures of the face. The eyes are by far the most important among these structures and give life, meaning and

Of the various abnormalities in the eyes and eyelids, ptosis
is the one that can be detected by a single look and from
a distance. It is also the one that is often missed by the
unwary clinician. The various causes of ptosis are given in
Table 1.4 and it is obvious that this easily detectable sign
can often direct one's attention to a serious disorder of the
central nervous system. Ptosis may be mild and unilateral

1.103
Hair loss

1.104
Axillary hair loss

1.105
Empty follicle pits

1

ATLAS OF CLINICAL DIAGNOSIS

22
Table 1.4 Causes of ptosis
Type
Congenital

Cause
Levator muscle/oculomotor nerve
maldevelopment may be unilateral or
bilateral

Local disease

Dehiscence of levator aponeurosis,
inflammatory (e.g. chalazion, stye),
infiltrative (e.g. amyloidosis, lymphoma,
etc.)

Myopathic

Myasthenia, botulism, myotonic dystrophy,
chronic progressive external
ophthalmoplegia

Neuropathic

Horner's syndrome, oculomotor paresis,
tabes dorsalis, Guillain-Barre syndrome,
mid-brain lesion, facial paresis, frontal
lobe lesions

1.106
Partial and unequal
ptosis

1.107
Complete right ptosis

1.108
Partial ptosis

1.109
Ptosis with
overaction of
frontalis

when a part of the eyeball can be seen (1.106), or it may
be complete, which is usually caused by a third cranial
nerve palsy (1.107). The diagnosis can be made by carrying out a few clinical tests. Bilateral ptosis is almost always
incomplete and may affect one eye more than the other;
indeed, there may not be any other additional neuromuscular signs in the face (1.108). In the absence of any
muscular disorder, the frontalis muscle is usually wrinkled
over the forehead, in an effort to compensate for the
droopy eyelids (1.109).

Differential diagnosis of ptosis
The clinical diagnosis of ptosis and an understanding of its
underlying pathology both depend on answering several
questions. First it must be established whether the ptosis is
real by asking the subject to look upwards without tilting
the head, since some normal subjects, particularly of Asian
origin, have droopy upper eyelids that they can lift when

THE FACE

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23

so required. This procedure also provides an opportunity
to distinguish the ptosis of a sympathetic paresis (Horner's
syndrome) from that of a third cranial nerve palsy, since in
patients with a smooth muscle paresis the upper lid
lifts when the patient tries to stare or look upwards. This
patient with a right Horner's syndrome (1.110) can lift his
right eyelid up to the limbus when he tries to stare (1.111),
whereas the patient with a right third cranial nerve palsy
is unable to do so (1.112). Note the smaller pupil on the
right in 1.111.
This method may seem too difficult for a proper interpretation by those not trained in the subtleties of neurol-

ogy. An easier method is to look at the eyes and answer
the following three questions:
1. Is the pupil on the side of the ptosis small? If so
Horner's syndrome (1.111,1.113) is suspected.
2. Is the pupil of normal size (1.112) or large (1.114)? If
large, the probable diagnosis is third cranial nerve
palsy.
3. Is there an associated ocular palsy? If so third cranial
nerve palsy or m\asthenia gravis is suspected.
To answer these questions satisfactorily the eye must be
examined carefully for any abnormalities of the lids or

1.110
Right Horner's
syndrome
1.111
Able to stare! Note
smaller right pupil

1.112
Right third cranial
nerve palsy: unable
to stare!

1.113
Left Horner's
syndrome

1.114
Right third cranial
nerve palsy:
complete ptosis and
large pupil

1.115
Myotonic dystrophy:
ptosis with
unwrinkled face

1

ATLAS OF CLINICAL DIAGNOSIS

24

globe and for any ocular palsies (see Table 1.1). Finally, one
needs to consider whether the ptosis is a part of a neuromuscular disorder such as myasthenia gravis, myotonia
dystrophica and mitochondria! myopathy.
Patients with a myotonic dystrophy tend to have a long,
lean, expressionless face and they can neither lift their
upper eyelids nor create any wrinkles on their forehead
(1.115). Bilateral ptosis with overaction of the frontalis may
be congenital and be present since birth, as in this patient
(1.116), or acquired as in tabes dorsalis (1.117). The ptosis
of myasthenia gravis tends to get worse as the day progresses or if the patient is asked to open and close the eyes

1.116
Congenital ptosis

1.117
Acquired ptosis with
overaction of
frontalis

1.118
Before and 30 s
after intravenous
edrophonium

1.119
Before and 1 min
after intravenous
edrophonium

1.120
Right third cranial
nerve palsy

1.121
Right sixth cranial
nerve palsy

repeatedly; in this situation it improves after an intravenous injection of edrophonium (1.118,1.119).

Ocular palsies
Complete or partial ptosis associated with a dilated pupil
on the affected side is always the result of a third cranial
nerve palsy (1.120). Deviation or strabismus of the eyeball
can also be caused by a fourth or sixth cranial nerve palsy
as in this patient (1.121), whose right eye is turned inwards
because of the weakness of the right lateral rectus muscle,
thereby permitting unopposed adduction by the medial

THE FACE

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25

rectus. Apart from a strabismus, one should ascertain
whether the patient experiences diplopia and whether
there is any proptosis. The former confirms that there is an
ocular palsy and its direction is suggestive of the particular cranial nerve involved. Proptosis suggests the presence
of a local pathology.
If the fifth cranial nerve is also involved as part of
mononeuritis multiplex, then the ptosis may be associated
with inflammation of the eyelids and loss of the soft
portion of the nose (1.122), due to sensory deprivation
and consequent failure of protection from recurrent
trauma.
Ocular myopathy begins with a progressive bilateral
ptosis (1.123). There is often a myopathy of other external
ocular muscles and sometimes there is evidence of other
concomitant lesions in the central nervous system (e.g.
paraplegia, retinitis pigmentosa, ataxia). Mitochondrial
abnormalities have been reported both in ocular and
skeletal muscles.
Differential diagnosis of ocular palsies
The diagnosis of a third, fourth, or sixth cranial nerve
palsy can be made by testing the eye movements in
nine directions - straight in front, to the right, to the
left, up, down, to the right and up, to the left and up, down
to the right and down to the left. Apart from the full
movement of the eyeball in each direction, the patient
should be asked to report the appearance of any diplopia,
which suggests weakness of the muscle that acts in that
direction. Figures 1.124-1.129 were obtained from a
patient with a right cavernous sinus thrombosis affect-

ing the right third, fourth and sixth cranial nerves. These
pictures illustrate the usefulness of testing the eye
movements.
Right third cranial nerve palsy is suggested by a complete ptosis (1.130), dilatation of the pupil (1.124) and the
inability to elevate (1.128) and adduct the eyeball (1.126);
this is because the third cranial nerve supplies the levator
of the upper lid, the constrictor of the pupil, all the extrinsic muscles of the eye except the lateral rectus (the sixth
cranial nerve) and the superior oblique muscle (the fourth
cranial nerve). The patient is unable to look to the right
because of the right lateral rectus (sixth cranial nerve)
palsy (1.125), or downwards and inwards (1.129) because
of right third and fourth cranial nerve palsy. Often it is difficult to test the integrity of the fourth cranial nerve (downward gaze of the adducted eyeball) when there is a
coexistent third cranial nerve palsy, as this renders adduction of the eyeball incomplete or altogether impossible.
However, if one looks carefully at the affected eyeball, it
will be seen to intort when a patient with right third cranial
nerve palsy but with an intact fourth cranial nerve attempts
to look down and to the left.
Figure 1.131 shows an example of an internuclear ophthalmoplegia; the top and the bottom panels show the left
lateral gaze, which reveals paresis of the right internal
rectus. When the patient tries to look in the opposite direction (to the right, see middle panel) it is the left internal
rectus that now fails to follow. The failure of adduction is
a pathognomonic sign of the internuclear ophthalmoplegia caused by a lesion in the medial longitudinal fasciculus. This patient had multiple sclerosis.

1.122
Mononeuritis
multiplex: bilateral
third, fourth, fifth
and sixth cranial
nerve palsy

1.123
Bilateral ptosis

1

ATLAS OF CLINICAL DIAGNOSIS

26

1.124
Looking straight in
front

1.125
Looking to the right

1.126
Looking to the left

1.127
Looking down

1.128
Looking up

1.129
Looking down and
inwards

1.130
Complete ptosis

1.131
Internuclear
ophthalmoplegia:
failure of adduction

THE FACE

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27

Proptosis
Proptosis associated with an ocular palsy may point to a
cavernous sinus thrombosis with the involvement of one
or more of the ocular nerves as they traverse the sinus.
Proptosis of a moderately severe degree can confuse the
diagnosis since a protruding eyeball does not move freely
in various directions and falsely suggests an ocular
palsy.
A unilateral proptosis of any degree is easy to recognize
so long as one remembers to compare it with the normal

side (1.132). Many clinical teachers advocate that patients
with a suspected proptosis should be observed from above.
This procedure, when performed properly, can be successful in showing the bulge of the proptosed eye above the
level of the normal eye, both in gross proptosis (1.133) and
when there is only a moderate degree of proptosis (1.134,
1.135). However, a careful look at the protuberant eyeball,
the periorbital furrows that are filled out, and at the lateral
view of the eyeball compared with the normal side, is all
that one needs to distinguish a protruding eyeball from a
normal one (1.136,1.137).

1.132
Left proptosis

1.133
Viewed from above

1.134
Right proptosis

1.135
Viewed from above

1.136
Proptosed eye

1.137
Normal eye

1

ATLAS OF CLINICAL DIAGNOSIS

28

This procedure can be successful even when there is
only a modest degree of proptosis, which can be suspected
first by looking at a patient's face (1.138). Comparing the
eyes with each other and by looking at each eye carefully,
the superior periorbital sulcus clearly seen above the right
eye (1.139) is obscured by the bulging eyeball on the left
side (1.140). The lower eyelid also looks a little fuller on
the left side and the left eye does not look so comfortably
housed in the orbit, unlike the right eye with room to
spare.
The examination of proptosis should be completed
by determining its direction, whether it is pulsatile and
reducible (by gently pressing on the eyeball) as it was in

1.138
Left proptosis

1.139
Normal orbital
contours

1.140
Obscured superior
orbital furrow

1.141
Left Horner's
syndrome

1.142
Left third cranial
nerve palsy

this patient with a carotid-cavernous fistula (1.138), or
whether it is fixed and irreducible as in Figure 1.132.

Pupillary abnormalities
Pupillary abnormalities may be bilateral, as in neurosyphilis, or unilateral, as in the Holmes-Adie syndrome
(myotonic pupil). A clinician's task is not only to spot the
asymmetry but also to identify the abnormal side. Often
there are associated abnormalities in the eyeball or eyelids
such as a partial ptosis in Horner's syndrome (1.141)
or complete ptosis in a third cranial nerve palsy (1.142).

THE FACE

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29

The absence of any ocular abnormalities associated with a
dilated pupil (1.143) suggests a diagnosis of the myotonic
pupil, a condition usually seen in young women and often
associated with absent ankle and knee jerks. Such pupils
are always regular but react poorly to light and on accommodation. The Argyll Robertson pupils are small (1.144),
often irregular and unequal (although these changes may
be very subtle), and their characteristic feature is that they
are either non-reactive to light or react poorly but respond
better on accommodation. Their reaction to light and
accommodation is sometimes difficult to determine because of their small size but, on repeated testing, some
reaction on accommodation can be detected in the pupils
that are non-reactive even to intense light.

Facial muscles
Facial muscles make a major contribution to the contour
and shape of the face. Any weakness or wasting of one or
more muscles is betrayed by a resulting asymmetry and
distortion of the facial features. Atrophy of one side of the
face - facial hemiatrophy - may occur in otherwise healthy
subjects (1.145). This is a rare disorder and is often heralded by the appearance of a dimple, which progressively
enlarges and, within a few years, invovles all the structures
on one side of the face. The abnormal side (1.146) with its
infrazygomatic pit, thinned nose and hollow periorbital
spaces shows a striking contrast to the normal side (1.147),
which looks full and fleshy.

1.143
Holmes-Adie
syndrome

1.144
Argyll Robertson
pupils

1.145
Facial hemiatrophy

1.146
Hollow side

1.147
Normal side

1

ATLAS OF CLINICAL DIAGNOSIS

30

Myopathic facies are characteristically unwrinkled, expressionless and sad, with lax and pouting lips, as seen in
this patient with myotonia dystrophica (1.148). This long,
lean and expressionless face with gaping lips can be
detected even in young subjects with the condition (1.149).
An expressionless face may also be seen in association
with the facioscapulohumeral muscular dystrophy (1.150).
There is characteristic pouting of the lips, which, together
with poverty of expression, is seen even in those patients
in whom muscular wasting of the face is not very marked

1.148
Myopathic facies:
bilateral ptosis with
a smooth, unlined
face

1.149
Long, lean face with
pouting lips

1.150
Facial muscular
atrophy: unwrinkled,
expressionless face

1.151
Mild facial muscular
wasting

1.152
Severe facial
muscular wasting:
wide open eyes and
a lax, partially open
mouth

1.153
Ptosis in myasthenia
gravis

1.154
Right Bell's palsy:
wide open right eye,
smooth right face

and in whom there is no ptosis (1.151). This form has an
autosomal dominant inheritance but there is substantial
variation in the severity in affected members of the same
family. In contrast, profound muscular wasting of the entire
face, as in this patient with bulbospinal muscular atrophy
(1.152), gives the face a characteristic appearance with
wide, noncommunicative eyes, lax and open lips, an unlined
face and a sagging lower jaw. Facial features are much less
marked in the early stages of myasthenia gravis when
ptosis may be the only abnormality (1.153).

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31

Facial nerve palsy is by far the commonest abnormal
neuromuscular facies encountered in clinical practice. In
its complete form, as in Bell's palsy (1.154), there is paralysis of the upper and lower parts of the face, the wrinkles
on the affected side of the forehead and the nasolabial fold
are smoothed out, both the eyelids look lax and somewhat
retracted and the corner of the mouth appears to droop.
In the upper motor neurone muscular weakness (e.g.
lesion in the internal capsule), the paralysis is less well
marked and spares the upper part of the face if the lesion

is supranuclear since there is bilateral innervation of the
forehead from the corticobulbar fibres. This fact tends to
be overemphasized by clinical teachers since, despite the
bilateral innervation, there is often some widening of the
eyebrows on the affected side. Emotional and involuntary
movements such as spontaneous smiling may be much less
affected. Voluntary effort to force a smile and retract the
angles of the mouth reveals the weakness on the right side
in this patient with weakness of the facial muscles of
central origin (1.155).

1.155
Right hemiparesis

1.156
Myotonia
dystrophica

1.157
Facioscapulohumeral
muscular atrophy

1.158
Attenuated facial
and neck muscles

ATLAS OF CLINICAL DIAGNOSIS

32

Differential diagnosis
Both a family and personal past history of muscular weakness, details of the onset and of any associated symptoms, and a neurological examination all help to establish
the diagnosis. Facioscapulohumeral (Landouzy and
Dejerine) type and myotonia dystrophica are both
inherited familial disorders, transmitted through an
autosomal dominant gene. Other members of the family
may be affected, although in a remarkably varying
degree. Myotonia dystrophica occurs more commonly
in males and is often heralded by myotonia whereby
relaxation of a muscle after use is slow and incomplete,
embarrassingly noticeable during a handshake! Other
associated features are testicular atrophy, cataract, pre-

1.159
Winging of the
scapulae

1.160
Winging with mild
muscular wasting

1.161 and
1.162
Improvement after
intravenous
edrophonium

1.163 and
1.164
Myasthenia gravis:
before and after
intravenous
edrophonium

mature senility and alopecia causing frontal baldness in
both sexes (1.156).
The facioscapulohumeral type occurs equally in both
sexes and affects the muscles of the face and shoulder
girdles (1.157). Both the face and neck usually look thin
and attenuated (1.158) and there is often profound wasting
of the thoracic muscles with winging of the scapulae
(1.159). This sign may be demonstrable even in patients
with minimal muscle wasting (1.160). The weakness is
often remarkably selective with bilateral prominence of
the scapulae (1.159) and weakness of the pectoral muscles.
The facial muscles are involved first and then the weakness
descends to the scapular muscles and the muscles of the
upper arms and anterior legs. Other muscles may be spared
altogether or may be only minimally weak.

THE FACE

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33

In a typical case, myasthenia gravis is easy to diagnose
by its characteristic abnormal fatiguability that affects a
diverse range of motor functions such as talking, combing,
chewing, shaving, typing, walking, etc. The patient is better
in the morning after a night's rest but the symptoms return
as the day progresses when the patient may have diplopia,
the voice may be hoarse and even smiling may become an
effort. The edrophonium test can confirm the diagnosis and
may be very useful in difficult cases. A good response is
indicated by a marked improvement in the ptosis and by
the restoration of free ocular movements in all directions
(1.161-1.164). The improvement may be seen within a few

seconds and the patient may lose his or her ptosis and
be able to look upwards 30-60 s after the injection, as
illustrated in the three sequential panels in 1.165.
This patient with a complete Bell's palsy is unable to
close her eye on the affected side (1.166), the eyeball rolls
upwards on attempted closure (Bell's phenomenon) and
the eyelids can be separated easily on the affected side
(1.167). The patient with a partial palsy or the patient
recovering from a complete palsy can close the eye but
cannot bury the eyelashes (1.168). If asked to smile, the
face contracts to the normal side (1.169) and the patient is
unable to puff out her cheek on the affected side (1.170).

1.165
Myasthenia gravis:
response to
intravenous
edrophonium

1.166
Bell's palsy: unable
to close the eye

1.167
Bell's phenomenon

1.168
Unable to bury the
eyelashes

1.169
Contraction towards
the normal side

1.170
Unable to puff out
the affected cheek

ATLAS OF CLINICAL DIAGNOSIS

34

The external auditory meatus should be examined for the
presence of a herpetic eruption (1.171), which is associated
with herpes zoster of the geniculate ganglion in patients
with the Ramsay Hunt syndrome. Taste is lost over the
anterior two-thirds of the tongue.

Dermatoses
These comprise several conditions that affect the scalp and
the skin of the face.

Common skin conditions

Skin and mucosal lesions
Dermatology is a pictorial subject and skin lesions can be
recognized by a careful inspection of the lesion, the skin
around it, its distribution and the uniqueness of its pattern,
followed by examination of the other expected systemic
and cutaneous abnormalities. A generalist may usefully
begin by deciding whether the lesion represents one of
the dermatoses such as psoriasis, eczema, acne, etc., or is a
manifestation of a systemic disorder, such as an endocrine,
neoplastic, gastrointestinal or a metabolic disease.

1.171
Resolving herpetic
rash

1.172
Predilection for the
hairline

1.173
Psoriatic plaque with
scaling

1.174
Psoriasis: excessive
scaling. Note the
erythematous
plaques with scaling

1.175
Guttate psoriasis:
discrete,
erythematous
papules and plaques

1.176
Psoriasis: papules
with scaling

Psoriasis of the scalp usually results in reddish lesions on
the hairline (1.172) or plaques with scaling, which often
occur either behind or in front of the ear (1.173). The skin
between the plaques is normal. Sometimes there is profuse
scaling along the hairline (1.174) and the condition is indistinguishable from seborrhoeic dermatitis. This form of psoriasis is often difficult to treat and can result in loss of hair.
The face is not usually involved in psoriasis except in the
guttate variety in which 'salmon pink' erythematous
papules, 2mm-lcm in diameter may occur on the face
(1.175) and elsewhere on the body (1.176). Guttate (from

THE FACE

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35

the Latin meaning 'spots that resemble drops') psoriasis
may be chronic but more often appears as an acute exanthem with a shower of papules that develop rapidly in
young adults, often following a streptococcal pharyngitis.
This form of psoriasis should be distinguished from a
psoriasiform drug eruption.
As the name suggests, contact dermatitis is an acute
(chronic cases also occur) inflammation of the skin caused
by contact with an external toxic or antigenic agent. The
lesions appear as ill-defined red patches with fine fissuring and nonumbilicated vesicles sometimes covered with
crusts. The usual offending agents are plants, washing
powders, hair dyes or make-up powder, as in this patient
(1.177), and metals. In acute cases, the onset is rapid with
erythema, oedema and exudative vesiculation. Pruritus
and a burning sensation are the major presenting
symptoms.
Atopic eczematous dermatitis affects between 2 and
20% of the population. It is probably even commoner as
some patients learn to live with it without consulting their
doctors. Histologically, eczema is characterized by a
lymphohistiocytic infiltration around the upper dermal vessels, acanthosis and spongiosis. Clinically, the important

features are itching, redness, scaling and papulovesicles.
Atopic dermatitis is the commonest of its many variants.
In adults, atopic dermatitis is a chronic recurrent disorder with exacerbations often related to personal psychosocial adversities. There may or may not be a history of
childhood atopic dermatitis, asthma and hay fever; nevertheless many patients have a positive family history of the
atopic triad - dermatitis, asthma and allergic rhinitis. Serum
levels of IgE are elevated. In acute cases there is erythema,
oedema, exudation and intense itching, with resultant
excoriations and erosions; there may also be clusters of
papulovesicles (1.178). In chronic forms, there may be
dryness, scaling and lichenification (thickening of the epidermis with deepening of the skin lines) (1.179), plaques,
papulovesicles, excoriations, dry and wet crusts and cracks
(1.180).
One of the serious complications associated with atopic
dermatitis is the susceptibility to severe and generalized
herpes simplex type 1 infection (eczema herpeticum), and
to Kaposi's varicelliform eruption after vaccination. In
patients with atopic dermatitis, a few harmless-looking
herpetic vesicles on the lips may soon develop into a
generalized papulovesicular eczema herpeticum (1.181).

1.177
Contact dermatitis: a
reddish-brown
erythematous
reaction with
lichenification to
make-up powder

1.178
Atopic dermatitis:
papulovesicular
lesions on
erythematous skin

1.179
Chronic atopic
dermatitis:
lichenification over
erythematous skin

1.180
Papulovesicular rash
with crusting

1.181
Eczema herpeticum:
scattered
papulovesicular
lesions

1

ATLAS OF CLINICAL DIAGNOSIS

36

In acne rosacea there is widespread erythema on the
face with red papules (1.182). The rash may also involve
the eyelids. These patients have hyperreactive facial
vessels, with flushing in response to various stimuli such as
hot tea, spicy foods and alcohol. Over a period of years this
transient and recurrent flushing produces persistent
erythema and papules. In a well-developed case there
is usually a purplish-red hue to the face with macules,
papules and telangiectasia (1.183). Although called acne
rosacea, unlike acne there are neither comedones nor
seborrhoea (see 1.201,1.202).
Urticaria is an intensely itchy condition with swelling
of the dermis that raises the epidermis into weals
(1.184). Acute rashes are often IgE-dependent in patients
with an atopic background. In chronic cases the aetiology
is mostly unknown. There are special varieties of cold,
solar and cholinergic urticaria induced by cold, sunshine

1.182
Acne rosacea:
erythema with
papules

1.183
Maculopapular rash
with lichenification

1.184
Urticaria:
oedematous dermal
weals of varying
size

1.185
Angioneurotic
oedema

1.186
Acute erythema and
generalized oedema

(action spectra 290-500 nm) and excessive sweating,
respectively.
In angioneurotic oedema, the subcutaneous tissue rather
than the dermis is swollen, usually affecting the lips,
mouth, eyes (1.185) and genitalia. The name is misleading
since the nerves and vessels are not involved. A rapid
appearance of erythematous weals around the mouth
should be regarded as a medical emergency; in this situation the patient should be monitored carefully for any
signs of respiratory obstruction. The causes are multifactorial as in other urticarias. The hereditary variety is
an autosomal dominant disorder and is characterized by
life-threatening laryngeal oedema and acute abdominal
pains caused by oedema of the bowel wall. During the
acute episodes, the facial features are grossly distorted with
erythema and swelling (1.186) but there is usually no
itching.

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37

As the name erythema multiforme implies, the cutaneous reaction to circulating immune complexes (stimulated by infections, drugs, collagen diseases, etc.) is diverse,
ranging from a maculopapular rash (1.187) to erythematous plaques (1.188), blisters and target lesions. The latter
are diagnostic with a central, purplish area or a blister surrounded by a pale, oedematous zone, which in turn is sur-

rounded by a rim of erythema (1.189). These lesions may
be scattered all over the body (1.190 and 1.191). The
mucous membranes of the eyes and mouth (1.188, 1.192)
may also be affected; the condition is then referred to as
the Stevens-Johnson syndrome. Recurrent herpes simplex infection is a common cause of recurrent erythema
multiforme. Other provocating factors are bacterial infec-

1.187
Erythema
multiforme:
maculopapular rash

1.188
Stevens-Johnson
syndrome. Note
labial involvement

1.189
Target lesion

1.190
Scattered target
lesions

1.191
Distribution of
lesions in erythema
multiforme

1

ATLAS OF CLINICAL DIAGNOSIS

38

tions and a variety of drugs. An association with
Mycoplasma pneumoniae in young adults has been
reported.
Basal cell carcinoma starts as a cluster of small nodules
with telangiectasia (1.193) and early ulceration. It occurs
mostly on exposed areas, commonly on the face or
forehead as in the patient shown in Figure 1.194. It is the
commonest form of cutaneous malignancy, grows slowly
(the lesion has often been present for over a year before
the patient seeks advice) and causes locally destructive
changes, hence it is also called rodent ulcer.

1.192
Stevens-Johnson
syndrome

1.193
Early basal cell
carcinoma:
coalescing cluster of
reddish nodules

1.194
Basal cell
carcinoma: common
site

1.195
Sycosis barbae

1.196
Pustules arising in
the hair pits

1.197
Impetigo contagiosa

Infections
Folliculitis results when the hair follicles become infected
with Staphylo coccus spp. On the face the infection may
spread by shaving (sycosis barbae) (1.195). The hallmark
of the lesion is the pustule confined to the ostium of the
hair follicle (1.196). Papulopustules may coalesce to form
indurated plaques.
Staphylococcal or streptococcal infection of the epidermis
causes thin-roofed vesicles or pustules which often become
crusted because of scratching - a condition known as
impetigo contagiosa (1.197). This condition predominantly

THE FACE

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39

occurs in children and young adults with poor hygiene and
crowded living conditions. The face and hands are the sites
most commonly affected and the hallmark of impetigo is
honey-coloured crusting (1.198, 1.199). Lesions develop
rapidly and the infection can spread to those in close contact
with the patient. It may complicate pre-existing atopic dermatitis and in some susceptible children a bullous form of
impetigo occurs (1.200), which can be difficult to treat.
Acne vulgaris is essentially a disease of adolescence and
affects the sebaceous glands, with an increase in sebum
production and sebaceous duct blockage at puberty. Fol-

licular papules appear and these often develop into pustules (comedones) with whiteheads (closed) or blackheads
(open) (1.201). There may also be nodules, noduloulcerative lesions, cysts, scars and considerable seborrhoea
of the face and scalp (1.202).
In moderately severe cases, the entire face and forehead
is affected with papules and pustules (1.203). Mild to moderate lesions heal without scarring. In severe cases, rupture
of the follicles and inflammation lead to dermal damage
leaving behind scarred pits (1.204). The condition deteriorates premenstrually in some women, while pregnancy has

1.198
Impetigo: multiple
small abscesses

1.199
Impetigo: honeycoloured crusting

1.200
Bullous impetigo:
thin-walled,
intraepidermal
bullae

1.201
Acne: comedones
with blackheads

1

ATLAS OF CLINICAL DIAGNOSIS

40

a beneficial effect. Tropical acne (in young Caucasians
living in the Far East), steroid acne (in patients with
Cushing's syndrome or those on corticosteroids), and
chemical acne (in patients exposed to chlorinated hydrocarbons) are some of the variants.
Erysipelas is an acute, spreading streptococcal infection
of the dermal and subdermal tissues causing tender

1.202
Acne with
seborrhoea

1.203
Acne: multiple
papulopustular
lesions

1.204
Acne: scarring

1.205
Erysipelas: cellulitis
with well-defined
borders

1.206
Widespread
erysipelas affecting
both sides of the
face

1.207
Shiny, reddishbrown plaque with
scarring

erythematous induration with sharply defined, irregular
borders (1.205). It may occur anywhere on the body but is
often seen on the face and legs. Immunocompromised
states such as diabetes mellitus and some haematological
malignancies are the usual underlying risk factors but
erysipelas may occur in otherwise healthy subjects. The
organism gains entry through a minor abrasion (usually

THE FACE

1•
41

visible on the surface) and infects the superficial lymphatics. Erysipelas is usually unilateral but, in severe cases, the
infection may spread to both sides of the face and the neck
(1.206). Recurrent infection of the same site can lead to
chronic lymphoedema.
Lupus vulgaris is a form of cutaneous tuberculosis and
often evolves as clusters of flat, brownish-red papules with
ulceration, scarring and disfigurement (1.207). In contrast,
lupus pernio (cutaneous sarcoidosis) is a bluish-red granuloma that neither gives an appearance of translucency nor
causes scarring (1.208; see also 1.282 and 1.283) despite
diffuse granulomatous involvement of the nose in some
cases (1.209). Lupus vulgaris has become rare since the
advent of effective antituberculous treatment but cases are

still seen in northern Europe - more commonly in females,
children and the elderly.
The infection commonly affects the face and neck but
may also occur on the arms (1.210) and legs. Initially, the
lesions look like firm, translucent, brownish-red nodules
(1.211). Ulcerative forms can present as serpiginous,
punched-out ulcers surrounded by a brownish infiltrate,
which is referred to as 'apple-jelly' (yellowish-brown)
because of its appearance when a glass slide is pressed on
the surface (diascopy).
Tinea capitis is caused by ringworm fungal infection of
the scalp. There is excessive scaling, fracture of the hairs
('dots' on the surface) atrophy of the skin (1.212) and sometimes pustule formation with adherent yellowish crusts.

1.208
Lupus pernio

1.209
Cutaneous
sarcoidisis with
granulomatosis
infiltration of the skin

1.210
Lupus vulgaris

1.211
Lupus vulgaris:
reddish nodules and
plaques

1.212
Tinea capitis:
fractured hairs

1

ATLAS OF CLINICAL DIAGNOSIS

42

These scaling papular lesions of tinea corporis occur in
an annular formation, spreading peripherally and clearing
centrally (1.213). The outer border is red and irregular
with fine scaling. The lesions occur on the face, limbs and
trunk.
Herpes zoster is a common and easily recognizable condition caused by the varicella virus and characterized by a
localized vesicular or bullous eruption, usually limited to a
dermatome (often the ophthalmic branch of the trigeminal nerve; 1.214), which is innervated by the corresponding
sensory ganglion. Along the distribution of a cutaneous
nerve there are usually clusters of vesicles with erythema,
oedema and scabs (1.215). Intense pain can be a very
distressing and chronic feature of this condition.

1.213
Tinea corporis:
advancing erythema
with scaling

1.214
Herpes zoster:
ruptured blisters with
crusting

1.215
Clusters of vesicles
with scabs

1.216
Pemphigus: ruptured
bullae and mucosal
lesions

Blistering diseases
Of the common blistering disorders, erythema multiforme
and herpes zoster have been mentioned already, and
herpes simplex will be discussed in the next chapter. Dermatitis herpetiformis and porphyria are referred to later in
this chapter (see Systemic Disorders). Since pemphigus
often, and pemphigoid sometimes, can affect the face, these
will be presented here briefly.
Pemphigus vulgaris usually starts in the oral mucosa and
then many months later involves the skin of the face
(1.216). Large, thin bullae occur usually on normal skin and
on rupture leave non-healing, red erosions on the face
(1.217) and scalp (1.218). The epidermis can be made to

THE FACE

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43

slide over the underlying dermis if lateral pressure is
applied to the skin with the thumb (Nikolsky sign).
Pruritus is not a feature but the ruptured, raw erosions
are painful. Secondary infection and electrolyte imbalance
are common complications of generalized pemphigus.
Pemphigoid involves the face much less commonly than
pemphigus. Initially the lesions often appear as urticaria,
eczema or erythema (1.219) and then evolve to form thick
bullae, which may appear suddenly over various parts of
the body (1.220). Unlike pemphigus, these lesions may itch
but they are less painful and the bullae are thick and
rupture less easily.
An important diagnostic feature between pemphigus
and pemphigoid is that in the former the bullae arise from
within the epidermis and are consequently thin and easily
ruptured. In pemphigoid, on the other hand, the bullae are
dermal-epidermal, thick and not easily ruptured. Thus,
when one encounters a patient with many intact bullae
then pemphigoid takes the top place in the diagnostic
consideration. It is important to bear this in mind when
considering the various blistering disorders (see Table 1.7).

The differential diagnosis of these conditions is further
discussed on page 60.

Infectious exanthemata
Since the advent of effective vaccination, the blotchy erythematous rash of measles (1.221) is seen less often today.

Table 1.5 Some causes of vesiculobullous diseases
Intradermal (thin) blisters

Dermal-epidermal (thick) blisters

Pemphigus

Pemphigoid

Herpes simplex

Dermatitis herpetiformis
Herpes gestationis

Herpes zoster

Erythema multiforme

Toxic epidermal necrolysis

Porphyria cutanea tarda

Bullous impetigo

Bullous disease in diabetes
mellitus

1.217 and
1.218
Pemphigus: ruptured
bullae leaving
nonhealing, red

1.219 and
1.220
Pemphigoid:
erythematous lesions
and intact, thick
bullae

ATLAS OF CLINICAL DIAGNOSIS

44

The maculopapular rash, which rapidly coalesces to large,
irregular blotches, appears on the face and trunk (1.222)
approximately 2-4 days after the prodromal phase of
fever, catarrh and conjunctivitis. Koplik's spots are white
or greyish-white patches, 1-3 mm in size, found over the
buccal mucosa (1.223) during the pre-eruptive stage and
are highly characteristic of measles. These spots may
persist even after the rash has faded.
The hallmark of chicken pox (varicella) is that macules,
papules, vesicles and .pustules appear simultaneously
on the face and the trunk (1.224, 1.225). In adults, the
lesions appear on an erythematous base. In children,
varicella causes only a minor illness but adults may
experience considerable malaise, headache and muscle
pains. In immunocompromised patients the condition is
very severe. Approximately one-third of children with lymphoma and leukaemia who acquire a varicella infection
will develop 'progressive varicella' associated with deep
vesicles.
Darier's disease (keratosis follicularis) is a rare autosomal dominant disorder of keratinization that is characterized by hyperkeratotic papules (1.226). It is not an
infectious disease but is presented here because it has to

1.221
Measles

1.222
Measles: diffuse,
blotchy rash
1.223
Koplik's spots

1.224
Varicella: macules,
papules, vesicles and
pustules
1.225
Varicella:
maculopapular and
vesicopustular
lesions

be considered in the differential diagnosis of a 'spotty face'
and can cause confusion to a generalist. The distinctive
lesion is a firm, crusted, skin-coloured or yellowish-brown
papule appearing mostly on the face (1.227), scalp (1.228),
hands, soles and on the flexural surfaces. Sometimes
the early lesions on the face may be mistaken for acne
(1.201-1.203), but the presence of greasy papules with
crusted tops and the absence of comedones distinguish the
two. In Darier's disease, the palms and soles may show
punctate keratosis with minute pits (1.229), which are
pathognomonic.
In considering various dermatoses of the face, the clinician should be aware of the possibility that the lesions may
be self-inflicted (dermatitis artefacta). Such lesions vary
from redness to ulceration, favour accessible (to the
patient) areas, have a bizarre shape, may be linear or oddly
grouped, and do not resemble any known pathological
process (1.230). The same area may be repeatedly
damaged and the treatment, left to the patient to carry out,
may not lead to any improvement (1.231, see also 2.4). The
patient is usually a young woman with some medical
knowledge, who may be expecting some form of 'secondary gain' from having skin lesions.

THE FACE

1
45

1.226
Darier's disease:
papules with
hyperkeratotic crusts

1.227
Hyperkeratotic
papules

1.228
Yellowish-brown
papules and
scattered pits

1.229
Punctate keratosis
with pits

1.230
Dermatitis artefacta

1.231
Clean-cut, selfinflicted ulcers

1

ATLAS OF CLINICAL DIAGNOSIS

46

Cutaneous manifestations of
systemic disorders
The skin as a system, or an organ, shares the manifestations of some diseases with other systems but it does so in
its own special, pictorial way. It thereby provides a window
through which one can see, suspect and, at times, identify
the offending underlying disorder.

Gastrointestinal disorders
In the Peutz-Jeghers syndrome the orocutaneous pigmentation has a characteristic appearance of brownish-black
spots (lentigines) around the mouth (1.232). The pigmented macules on the lips and oral mucous membranes
(periorificial lentiginosis} may be present at birth or may
develop during early childhood. These are usually associated with multiple hamartomatous polyposis in the small
bowel, stomach and occasionally in the colon. Malignant
transformation of the polyps is known to occur particularly
in the Japanese with this syndrome. The condition is inherited as an autosomal dominant trait. Bowel polyposis and
cutaneous lesions may not coexist in affected families.
A close look at a single spider naevus reveals a focal
telangiectatic network of dilated capillaries, radiating from

1.232
Perioral pigmented
macules

1.233
Spider naevus

1.234
Portal cirrhosis:
spider naevi and
telangiectasia

1.235
Dermatitis
herpetiformis:
grouped
erythematous
papules and
ruptured blisters

a central arteriole (punctum) (1.233). Although spider
angiomas may be present occasionally in normal subjects
(mostly females) without any reason, they are usually
associated with hepatocellular disease (1.234) and
with hyperoestrogenic states such as pregnancy and oral
contraceptive therapy. On diascopy (pressing the skin
against a glass slide), the central arteriole can be seen to
pulsate.
Dermatitis herpetiformis is a chronic, recurring,
intensely pruritic blistering eruption (1.235) seen in
younger patients 30-40 years of age, with a high incidence
of associated coeliac disease. Small vesicles, papules and
urticarial weals (1.236) occur often in symmetrical groups
(1.237). Erythematous papules, tiny vesicles and sometimes bullae are heralded by severe itching, which is a persistent symptom causing excoriation and crusting. Spotty
pigmentation occurs in chronic cases. Anaemia from iron
or folate deficiency may be seen in association with the
coexisting malabsorption. A duodenal biopsy should be
performed in all patients with dermatitis herpetiformis.

Connective tissue disorders
In this group systemic lupus erythematosus is the commonest condition with skin lesions on the face. Usually an

THE FACE

1
47

erythematous, confluent, macular and mildly oedematous
eruption appears in a butterfly distribution (covering the
cheeks and the bridge of the nose) predominantly in
female (80%) subjects (1.238). The rash is itchy and may
be maculopapular with some erosions and crusting (1.239).
It may appear spontaneously but is sometimes induced,
and often exacerbated, by exposure to the sun. Discoid
papules, as in the discoid variety, occur on the face and
there may also be scaling, hypopigmentation and vasculitic
lesions (1.240, 1.241). A variety of drugs (Table 1.6)
are known to induce a systemic erythematosus-like
syndrome.

Atrophic contracture of the skin from fibrosis of the connective tissue is the hallmark of systemic sclerosis. Even in
the early stages the thinned skin can be seen stretched over
prominent bony parts such as the bridge of the nose, the
larynx and the trachea (1.242), with furrows radiating from
the laryngeal prominence and the mouth. Such a patient
may also have telangiectasia on the face. The lips become
thin with perioral furrowing (rhagades), and the tightening
of the paper-thin skin may cause pitting over the bony ends
of the nose (1.243).
As the condition progresses there is loss of the normal
facial lines associated with any emotional expression (such

1.236
Papules, vesicles and
weals

1.237
Symmetrical
papulovesicular
groups

1.238
Systemic lupus
erythematosus:
butterfly distribution

1.239
Maculopapular rash
with crusting and
scales

1.240
Sharply demarcated
discoid plaques

1.241
Papular butterfly
rash with erythema
and scaling

ATLAS OF CLINICAL DIAGNOSIS

48
Table 1.6 Some common drugs known to induce systemic
lupus erythematosus
Dose-time-related drugs
Hydralazine
Methyldopa
Procainamide
Isoniazid
Chlorpromazine
Chlorthalidone
Phenytoin
Trimethadone
Ethosuximide
Carbamazepine

1.242
Systemic sclerosis.
Note telangiectasia
on the lip and
stretched skin over
the larynx

1.243
Rhagades (perioral
furrowing) and nasal
pitting

1.244
Rhagades,
telangiectasia and
stretched skin with
nasal pitting

1.245
Systemic sclerosis:
telangiectasia and
pigmentation

1.246
Dermatomyositis:
heliotrope rash

Idiosyncratic drugs
Aminosalicylic acid
D-penicillamine
Griseofulvin
Penicillin
Ampicillin
Streptomycin
Tetracycline
Methylthiouracil
Propylthiouracil
Phenylbutazone

as a smile), producing a mask-like appearance with
a pinched-out nose (1.244). The mat-like telangiectasia
(1.245) are present not only on the face (1.242-1.244) but
also on the upper trunk, hands, neck, inside the mouth and
in the gastrointestinal tract. This is a systemic disorder that
involves many organs (e.g. gastrointestinal tract, heart,
kidneys, lungs, joints and muscles) causing fibrosis and
atrophy of the connective tissues and small vessel obliteration. The male to female ratio is 1:3 and the commonest
presenting feature is Raynaud's phenomenon (p. 174).
The heliotrope (reddish-purple) inflammatory rash over
the eyelids, face, neck, upper chest (1.246) and dorsa of the
knuckles (Gottron's papules} is the most arresting and
characteristic feature of dermatomyositis. There is usually
some degree of fine scaling and oedema of the affected

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49

areas. The oedema is particularly noticeable periorbitally
when viewed from the side (1.247). The upper eyelids are
almost invariably involved and there may be telangiectasia scattered on the erythematous rash (1.248). Raynaud's
phenomenon occurs in approximately 20% of patients.
Fatiguability, muscle pains and proximal muscular weakness occur in all patients. There is no agreement on the incidence of an associated malignancy (from 6 to 50%) but a
search should be made, especially in patients over 40 years
of age and in those who respond poorly to conventional
treatment.

Genetic and metabolic disorders
Congenital erythropoietic porphyria (Gunther's disease) is
a very rare disorder. Pink urine (stained nappies) and an
acute cutaneous photosensitivity are two of its most characteristic features. The diagnosis is usually made in early
childhood when the cutaneous manifestations of bullae,
vesicles and ulcers occur on light-exposed areas. Patients
surviving beyond childhood show the effects of recurrent

exposure to the sun, and have diffuse and disfiguring scars
on the face, with loss of portions of the fingers, nose, ears
and eyelids (1.249). Erythrodontia, caused by the accumulation of porphyrins in the teeth, and splenomegaly associated with a compensated haemolytic anaemia occur in
most cases.
In variegate porphyria, vesicles and bullae occur more
frequently on the hands and feet; nevertheless inspection
of the face may prove rewarding since there is usually a
heliotrope hue on the eyelids and sometimes around the
mouth (1.250). Acute neurological attacks (e.g. confusion,
psychosis, generalized seizures, autonomic neuropathy,
sensory and motor neuropathy sometimes leading to quadriplegia and respiratory paralysis) are its most important
clinical features. Photosensitivity is not a presenting feature.
Mechanical fragility of the sun-exposed skin occurs in
porphyria cutanea tarda and patients with this condition
may present with hypertrichosis (1.251) especially in sunny
climates. Papules and ruptured blisters may be seen on
the sun-exposed face and ears (1.252). Tense bullae on
normal-appearing skin occur on the dorsum of the hands

1.247
Heliotrope rash with
fine scaling and
oedema

1.248
Diffuse rash over the
face and neck

1.249
Congenital
erythropoietic
porphyria: diffuse
scarring with loss of
nasal soft parts

1.250
Perioral heliotrope
hue

1.251
Hypertrichosis

1.252
Papules and
ruptured blisters

1

ATLAS OF CLINICAL DIAGNOSIS

50

(Chapter 9). As in the variegate variety, a purple-red hue
may be seen on the eyelids and around the mouth. Acute
life-threatening attacks do not occur in this condition but
it needs to be distinguished from variegate porphyria with
which it shares cutaneous lesions. During acute attacks
both conditions have increased levels of uroporphyrin
in the urine, but the diagnostic hallmark in variegate
porphyria is its markedly elevated faecal protoporphyrin
level.
The diagnosis is confirmed by the presence of an orangered fluorescence of the urine when examined with a
Wood's lamp (1.253). It is always worth looking at a
specimen of urine from a patient suspected of having
porphyria cutanea tarda, since freshly passed urine may
be orange-red or brown-red (1.254). In congenital
erythropoietic porphyria, the colour of the urine ranges

1.253
Fluorescence: viewed
in Wood's lamp

1.254
Porphyria cutanea
tarda: freshly voided

1.255
Congenital
erythropoietic
porphyria: darkishred urine

1.256
Bilateral
xanthelasmata

1.257
Multiple, creamy
xanthelasma papules

from pink to dark red (1.255) owing to the presence of
uroporphyrins.
Neither xanthelasma nor the presence of an arcus is specific to familial hypercholesterolaemia; however, these
signs point to the possibility that there may be an underlying lipid disorder that needs to be investigated. Xanthelasmata may be present in normolipaemic subjects, as in
this patient with longitudinal, yellowish plaques just below
the lower eyelids (1.256). The plaque has a brownish hue,
it is slightly raised and there is a cluster of three yellowish
papules medial to it (1.257).
An arcus in a young adult is highly significant and,
together with xanthelasmata (1.258), suggests that there
may be lesions elsewhere on the body, as in this patient
with tuberous xanthomata (see also 9.177-9.179) and a
positive family history for familial hypercholesterolaemia.

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51

Tuberous sclerosis (epiloia), an autosomal dominant
disease, is characterized by the presence of the red and
white, firm and discrete papules of angiofibromata (1.259,
1.260) (sometimes mistakenly called adenoma sebaceum).
These are pathognomonic of this condition but appear late
in infancy. The lesions are reddish, telangiectatic papules
with a yellowish tint, varying from 1 to 3 mm in diameter,
occurring mostly on the nasolabial folds and cheeks.
Developmental and dysplastic lesions are found in other
organs including the brain and kidney. The principal early
manifestations are the triad of seizures, mental retardation
and facial angiofibromata. The disease usually manifests in
childhood but a mild form may present in adult life. Clusters of skin-coloured fibromata on the nasolabial folds are
typical (1.261). The presence of periungual fibromas (see
10.92,10.93) aid the diagnosis. Patients tend to have greasy
skin; this is probably the reason why the angiofibromas
were misnamed adenoma sebaceum.
Haemochromatosis is a common and easily overlooked
autosomal recessive genetic disorder. This is because the

cumulative iron deposition takes a long time (usually to
the age of 40 years or over) to produce organ damage and
there are very few early symptoms. As would be expected,
clinical manifestations are more common in males and in
postmenopausal women. Fatigue is a particularly distressing and common symptom and there may be arthralgias,
abdominal discomfort, impotence and amenorrhoea. The
skin pigmentation is often striking. With the increasing
melanin and haemosiderin deposition, the skin has a slategrey appearance (bronzed diabetes) in over-exposed areas
such as the hands, neck and face (1.262,1.263). Other manifestations include hepatomegaly, portal cirrhosis, hypogonadism and diabetes mellitus.
The hyperpigmentation of haemochromatosis should
be distinguished from that caused by transfusion
haemosiderosis (1.264), chronic amiodarone therapy
(1.265, 1.266), and alcoholic cirrhosis, which causes both
iron overload and pigmentation. Some patients on longterm amiodarone therapy develop a bluish or slate-grey
pigmentation (1.265) caused by amiodarone deposition. A

1.258
Arcus juvenilis and
xanthelasmata

1.259
Tuberous sclerosis:
confluent, small,
angiomatous
papules

1.260
Multiple reddish
macules and papules
on and around the

1.261
Clusters of skincoloured and
reddish papules in
the nasolabial folds

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ATLAS OF CLINICAL DIAGNOSIS

52

spell of long exposure to the sun can cause intense bluishgrey pigmentation of the cheeks, nose and forehead
(1.266). Corneal deposition of the drug, photosensitivity
and an exfoliative dermatitis are some of its other manifestations. Patients with increased saturation of transferrin
(more than 50%), and elevated serum iron and ferritin
levels should have a liver biopsy for the definitive diagnosis of haemochromatosis. Once the diagnosis is made, other
family members should be screened, since early treatment
is quite effective in arresting the progression of the disease.
Mollusca fibrosa are soft, pink or skin-coloured, sessile
(early) or pedunculated (late) tumours scattered over the
face (1.267) and the rest of the body in neurofibromatosis.
Small neuroma nodules develop along the course of cutaneous nerves and these may be numerous, tender and disfiguring. A malignant change to neurofibrosarcoma may
occur in one of these, with a concomitant rapid increase

1.262
Haemochromatosis:
generalized, slate-grey
pigmentation

1.263
Haemochromatosis:
intense, slate-grey
pigmentation of sunexposed face, neck and
forearms

1.264
Haemosiderosis:
cutaneous and mucosal
pigmentation

1.265
Amiodarone
pigmentation of the
face, hands and
nails

1.266
Chronic amiodarone
therapy: dark,
bluish-grey
pigmentation of the
face and forehead

1.267
Neurofibromatosis:
multiple skincoloured and pinkish
papules and
nodules. Note the
larger swelling in the
neck caused by a
neurofibrosarcoma

in size, as happened in a neuroma on the left side of the
neck of this patient (1.267). Sharply defined, light-brown
patches called cafe-au-lait spots appear in almost all
patients. Freckling in the axillae (1.268) is pathognomonic.
Hereditary haemorrhagic telangiectasia is an autosomal
dominant condition (also called Osier-Weber-Rendu syndrome) that affects blood vessels, especially on the face, in
the mouth, the lungs and the gastrointestinal tract. Small,
flat, violaceous telangiectatic lesions, approximately 1-3
mm in diameter occur on the face (1.269), lips, mouth and
hands. The typical lesion is a punctate, purplish-red macule
or papule with a tiny mesh of capillaries radiating from it
(1.270). The telangiectasis results from dilatation, thinning
and convolution of the venules and capillaries. These
vascular meshes have neither contractile properties nor
any anatomical support, and they bleed spontaneously or
after minor trauma.

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53

Vascular malformations in the lung result in pulmonary
arteriovenous fistulas in approximately one-fifth of cases.
These malformations increase in size and frequency with
age and may cause recurrent haemoptysis, infections,
hypoxaemia, clubbing and polycythaemia. The condition
should be sought in patients with unexplained haemoptysis and anaemia.

Endocrine disorders
The endocrine disorders that cause major changes to the
facial appearance have already been discussed (p. 3).
Non-scarring alopecia and vitiligo, possibly associated
with some endocrine and autoimmune disorders, and a

hormone-secreting tumour with cutaneous manifestations
(glucagonoma) will need to be considered here.
Alopecia areata is a localized, well-circumscribed, oval
or circular loss of hair mostly affecting the scalp (1.271)
but sometimes occurring on the beard, eyebrows or eyelashes. Erythema may be present in the early stages but in
well-developed cases there are no inflammatory changes.
Characteristically, the peripheral areas of hair loss are
studded with the diagnostic broken-off hairs called 'exclamation mark hairs'.
Occasionally the hair loss may spread to the entire scalp
(alopecia totalis) (1.272). This may be difficult to recognize
in a patient wearing a wig, although the profuseness of the
hair on the wig, and the difference between the colour of
the native hairs in front of the ears and those of the wig
(1.273) may be obvious to the discerning clinician. Alo-

1.268
Neurofibromatosis:
axillary freckling

1.269
Osler-Weber-Rendu
syndrome: multiple,
discrete, red macular
and papular
telangiectases

1.270
Telangiectasis: a
mesh of capillaries
radiates from the
central punctum
(arteriole)

1.271
Alopecia areata

1.272
Alopecia totalis

1.273
Camouflaged
alopecia totalis

1

ATLAS OF CLINICAL DIAGNOSIS

54

pecia areata may be an autoimmune disease and is sometimes associated with Hashimoto's thyroiditis, pernicious
anaemia and diabetes mellitus. Progressive hair loss may
involve the entire body (alopecia universails}, as in this
patient (1.274) who also had pernicious anaemia and diabetes mellitus. The hair loss was complete, affecting the
scalp (1.275), eyelashes, eyebrows (1.276) and the rest of
the body. The nails may show dystrophic changes, with the
dorsal nail plate having multiple tiny depressions simulating 'hammered brass'.
Vitiligo may manifest as scattered, circumscribed areas
of hypomelanosis of the skin and hair around body orifices
such as the mouth and eyes (1.277). It also occurs over
bony prominences, particularly of the hands, knees and
elbows. In most cases, vitiligo is of idiopathic origin but
there is an increasing association with certain autoimmune
conditions such as thyroiditis, hyperthyroidism, diabetes
mellitus, Addison's disease and pernicious anaemia.

1.274 and
1.275
Alopecia universalis
in a diabetic subject

1.276
Alopecia universalis:
loss of eyebrows
and eyelashes

1.277
Vitiligo: sharply
demarcated macules

Glucagonoma is a rare neoplastic condition with welldescribed cutaneous manifestations, caused by an overproduction of glucagon in an alpha-cell tumour of
the pancreas. The characteristic skin lesion is a superficial migratory necrolytlc erythema with central blisters
or erosions that crust together, a beefy red tongue
and angular cheilitis (1.278). The clinical features include
loss of weight, diabetes mellitus (without ketoacidosis),
thromboembolic episodes, anaemia and psychiatric
disorders.

Cranulomatous and vasculitic disorders
This group includes all those conditions characterized by
the presence of granulomata and associated cutaneous
manifestations, such as sarcoidosis, which affects many
organs and has distinctive cutaneous lesions.

THE FACE

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55

Sarcoidosis is a chronic granulomatous disease of
unknown aetiology that affects young adults and presents
with skin lesions, pyrexia, ocular involvement, bilateral
hilar adenopathy and pulmonary infiltrations. Erythema
nodosum is the commonest cutaneous manifestation but
multiple maculopapular lesions (1.279), lupus pernio and
sarcoid infiltration of scars also occur. The maculopapular
and nodular lesions spread peripherally in an annular
fashion and some of the lesions coalesce into brownishpurple plaques on the face (1.280). On closer examination,
papular invasion of the epidermis with a resulting purplish
hue can be seen clearly (1.281). On diascopy, these lesions
may look somewhat like the 'apple-jelly' (yellowishbrown) of lupus vulgaris (see 1.207, 1.210 and 1.211) but
there is no scarring in sarcoidosis. Lupus pernio (or

chilblain) is a more homogeneous, dense, firm or soft, violaceous infiltration of the exposed parts such as the cheek,
nose (1.282) and earlobes (1.283).
Wegener's granulomatosis is a distinct clinicopathological entity and consists of a triad of: (i) a necrotizing granulomatous vasculitis of the upper and lower respiratory
tracts; (ii) a focal necrotizing glomerulitis; and (iii) a systemic small vessel vasculitis involving numerous organs.
Cutaneous manifestations occur in approximately half the
cases but in only approximately 10% of patients at initial
presentation. In almost all patients a history of symptoms
referable to upper respiratory catarrh or infection is obtainable. Common symptoms and signs include a persistent
nasal discharge, fever, cough, haemoptysis and nasa