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General Practice, Chapter 14

Chapter 14 - Inspection as a clinical skill

More mistak es, many more, are made by not look ing than by not k
nowing Sir William Jenner (1815-98)
General practitioners have an ideal opportunity to practise the art of careful observation and to notice all the
signs and features characteristic of a patient from the time seen in the waiting room until the physical
examination. We should be 'like Sherlock Holmes' in our analysis of the patient and accept the challenge of
being astute diagnosticians and proud members of a noble profession.
It is important to stand back (so to speak) and look at the patient's general appearance and demeanour.
We should be assessing their mood and affect as much as their physical appearance.The first
assessment to make is 'Does the patient look sick?'

First impressions
The first impression of the patient is always striking in some way and we should discipline ourselves to be
as analytical as possible.
A rapid inspection from a trained observer may be all that is necessary to allow the observer to pinpoint
specific disorders such as anaemia, hyperthyroidism, jaundice, acromegaly and alcohol abuse. Such
'spot' diagnosis is not justifiable unless the original signs are supported by further examination, which
must be comprehensive.
The following observations should therefore be made:
facial characteristics
abnormalities of the head and
neck examination of the mouth
character and distribution of hair
examination of the skin (in
general) height and weight
posture and gait
genitalia
examination of extremities (hands, feet, nails, etc.)

Physiognomy
Physiognomy, which is the art of judging character from the features of the face, flourished in the Middle
Ages. According to Addison, 'everyone is in some degree a master of that art which is physiognomy; and
naturally forms to themselves the character of a stranger from the features of the face'. In reality, all
doctors use a physiognomical approach to diagnose many medical conditions although we may not be as
expert at the art as we should be.
The face is a person's most immediate means of communicating with others; it is a shield and banner,
a mask and a mirror. It reveals mental faculties and emotional turmoil. It is the first perspective gained
of patients as they walk into the consulting room.

The face as a mirror of disease

A fascinating aspect of the art of clinical medicine is the clinical interpretation of the patient's facies. Not
only are specific skin lesions common on the face but the face may also mirror endocrine disorders and
organ failure such as respiratory, cardiac, renal and liver failure.
Jaundice may be masked by the natural colour of the cheeks but the yellow conjunctivae will be distinctive.
A marked plethoric complexion may be seen in chronic alcoholics (alcohol may produce a pseudoCushing's syndrome), in Cushing's disease or in polycythaemia. Thickening of the subcutaneous tissues
may be seen in chronic alcoholism, acromegaly and myxoedema, and the puffiness of the eyelids in the
latter condition may simulate the true subcutaneous oedema of renal disease.
An individual's personality and mood rarely fail to leave an impression on the facial characteristics. This is
partly due to the alteration in facial lines and wrinkles, which may become modified in anger, irritability,
anxiety and stress. More profound changes occur with mental disease. Various CNS diseases such as
Parkinson's disease and myopathies can affect facial expression, e.g. the immobile face of the patient with
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Parkinson's disease.
The appearance of the eyes can also be very significant and may reflect underlying systemic disease.

Diagnostic facies
Acromegalic
The enlarged characteristic face is due to a large supraorbital ridge that causes frontal bossing, a broad
nose and a prominent broad and square lower jaw. Other features include an enlarged tongue and soft
tissue swelling of the nose, lips and ears.

Alcoholic (due to chronic use)

It is important to recognise the characteristic changes as early as possible-a plethoric face,
thickened 'greasy' skin, telangiectasia, suffused conjunctivae and rosacea. Other features may include
rhinophyma, parotid swelling and characteristic changes to the lips and corners of the mouth.

Bird-like (systemic sclerosis: CREST syndrome)

The bird-like features, beaking of the nose, limitation of mouth opening, puckering or furrowing of the lips
and a fixed facial expression, are due to binding down of facial skin. Other features include telangiectasia
on the face and hands.

Chipmunk (thalassaemia major)

There is bossing of the skull, hypertrophy of the maxillae (which tends to expose the upper teeth),
prominent malar eminences and depression of the bridge of the nose. The major haemoglobinopathies
cause hyperplasia of the skull and facial bones because of an increase in the bone marrow cavity.

Cushingoid
The face has a typical 'moon shape', plethora, hirsutism (more obvious in women), acne.

Facial nerve palsy

Features include unilateral drooping of the corner of the mouth and flattening of the nasolabial
fold. UMN type: the forehead movement is spared.
LMN type: e.g. Bell's palsy, Ramsay Hunt syndrome: lack of forehead muscle tone.

Obese
The distinguishing feature from the 'moon face' of Cushing's disease is the general roundness and uniform
fatness of the face.

Thyrotoxic (hyperthyroidism)
The prominent eyes (sclera may not be covered by the lower eyelid) and conjunctivitis are features of the
thyrotoxic patient. The thyroid stare (a frightened expression) may also be present.

Myxoedemic (hypothyroidism)
The face usually has an apathetic look and is 'puffy' with possible periorbital oedema. There is broadening
of the lower part of the face. The skin (not the sclera) may appear yellow (due to hypercarotenaemia) and
is generally dry and coarse. Other features may include thin, coarse, listless hair and loss or thinning of
the outer third of the eyebrows. The tongue is usually enlarged and the patient speaks with a 'thickened',
croaking, slow speech.

Marfanoid (Marfan's syndrome)

The typical tall stature, arachnodactyly and chest deformities, combined with the facial features of
a subluxation of the lens of the eye and high arched palate, help to pinpoint the diagnosis.

Mongoloid (Down syndrome)

The facial features include a flat profile, with crowded features, a round head, dysplastic lowset ears,
protruding tongue, mongoloid slant of the eyes with epicanthic folds, mouth hanging open and peripheral
silver iris spots (Brushfield's spots).

Mitral (mitral valve disease, especially mitral stenosis)

This is typically shown in flushed or rosy cheeks with a bluish tinge due to dilatation of the malar
capillaries. It is associated with pulmonary hypertension.

Myotonic (dystrophia myotonia)

Typical features include frontal baldness, expressionless triangular facies, partial ptosis, cataracts and
temporal muscle atrophy.

Myopathic (myopathy/myasthenia gravis)

Facial characteristics include an expressionless, 'tired' looking face with bilateral ptosis.

Pagetic (Paget's disease)

The main feature is skull enlargement, notably of the frontal and parietal areas (the head circumference is
usually greater than 55 cm, which is abnormal)-the 'hat doesn't fit any more' hallmark. Other features
include increased bony warmth and deafness.

Parkinsonian
Characteristic is the mask-like facies with lack of facial expression and fixed unblinking stare. There is
immobility of the facial muscles.

Turner's syndrome
The facial characteristics include ptosis-'fishlike' mouth, small chin (micrognathia), low-set ears and
deafness. Cardiac lesions include coarctation of aorta and pulmonary stenosis. Webbing of the neck is the
classic sign.

Specific characteristics
Various facial signs may be present. The causes of these signs are listed below.

Butterfly 'rash'
SLE
Erythema, scaling with a discrete red advancing
edge on the cheeks and bridge of the nose. The sharp border, lack of
pustules and adherent scale make it differ from rosacea.
Rosacea
Papules, pustules and telangiectasia on an
erythematous background on cheeks, forehead and chin.
Erysipelas

Painful, erythematous, indurated skin infection with a well-defined raised edge.

Seborrhoeic dermatitis

Red and scaly rash involving eyebrows, eyelids, nasolabial folds.

Photosensitivity eruptions Erythematous on areas that are exposed to sun

Chloasma/melasma
Increased browning pigmentation, usually confined to symmetrical areas of the cheeks. Caused by drugs:
combined oral contraceptive
pill
hydroxychloroquine
(Plaquenil) diphenylhydrazine

Malar flush
mitral stenosis
pulmonary stenosis
rosacea
SLE
mesenteric adenitis

Spider naevi

pregnancy
liver
disease
vitamin B deficiency, in normal people

Enlarged tongue
acromegaly
hypothyroidism
amyloidosis

Cataracts
senility
corticosteroid therapy
diabetes
hypoparathyroidism
dystrophia myotonia
trauma
ocular disease, e.g. glaucoma

Telangiectasia
systemic
sclerosis CREST
syndrome
liver disease, e.g. alcoholism

Cyanosis
Cyanosis is a bluish discolouration of the skin and mucous membranes due to deoxygenated haemoglobin
concentrated in the superficial blood vessels. It is classified as central or peripheral.

Central
Cyanosis is present in parts of the body with good circulation such as the lips and tongue. The areas feel
warm. The main causes are pulmonary disease, pulmonary oedema, cyanotic congenital heart disease
(right to left shunt), respiratory depression, polycythaemia.

Peripheral
Cyanosis is in the extremities such as the outer surface of the lips, nose and ears. The areas feel cold.
The main causes are peripheral vascular disease, cardiac failure, exposure to cold, left ventricular failure
and all causes of central cyanosis.

Clubbing of fingers
Features
Loss of usual angle between base of nail and nail
fold. Curvature in two planes.
Increased sponginess in base of nail.
Increased convexity of nail.
Mainly caused by respiratory disease.

Causes
1. Lung disease
a. carcinoma
b. bronchiectasis
c. cystic fibrosis

d. abscess/empyema
e. pulmonary fibrosis
2. Heart disease

a. bacterial endocarditis
b. cyanotic congenital heart disease
3. Liver disease
a. cirrhosis
4. Gastrointestinal disease
a. ulcerative colitis
b. Crohn's disease
c. coeliac disease
5. Congenital disease

Increased pigmentation
Increased pigmentation is not common but if obvious in areas exposed to the sun look for 'hidden' areas
such as the inner aspect of the forearms. Causes include those listed below.

Increased melanocyte-stimulating hormone (MSH)

Addison's disease
Cushing's disease
Ectopic ACTH
syndrome

Metabolic
Hyperthyroidism
Haemochromatosi
s Cirrhosis of the
liver Porphyria
Chronic renal failure
Malnutrition/malabsorption
Pregnancy

Drugs
Oral contraceptive pill
Psoralens
Photochemotherapy (PUVA)
Arsenic, gold, silver
Phenothiazines
Antimalarials (chloroquine/hydroxychloroquine)
Dapsone
Antibiotics (busulphan,
bleomycin) Amiodarone

Tumours
Lymphomas
Acanthosis nigricans
Metastatic melanoma