Chapter 16: Inspection as a clinical skill

GPs 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?’.

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, from the Greek physiognomonia, meaning the judging of one's nature, is the art of judging character from the features of the face. It flourished during the Middle Ages. According to Addison,¹ ‘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.

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, kidney 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 pseudo-Cushing syndrome), in Cushing 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 kidney disease.

An individual's personality and mood rarely fail to leave an impression on the facial characteristics.² 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 disease and myopathies, can affect facial expression (e.g. the immobile face of the patient with Parkinson disease).

The appearance of the eyes can also be very significant and may reflect underlying systemic disease (see FIG. 16.1).

Acromegalic

The enlarged characteristic face is due to a large supra-orbital 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 (CHAPTER 23).

Adenoidal

Due to mouth breathing in children: a narrow nose/nares, a high-arched palate (the ‘Gothic’ palate), prominent incisor teeth, undershot jaw with a perpetually open mouth and ‘stupid’ expression.

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.

Choleric

The patient with cholera has a pale face with cold clammy skin, sunken eyes, hollow cheeks and a forlorn, apathetic look (similar to the Hippocratic facies).

Cushingoid

The face has a typical ‘moon shape’, plethora, hirsutism (more obvious in women), acne (CHAPTER 23).

Facial nerve palsy

Features include unilateral drooping of the corner of the mouth and flattening of the nasolabial fold (CHAPTER 33).

• Upper motor neurone (UMN) type: the forehead movement is spared

• Lower motor neurone (LMN) type (e.g. Bell palsy, Ramsay–Hunt syndrome): lack of forehead muscle tone

Hippocratic

This describes the deathly, mask-like features of advanced peritonitis—sunken eyes; ‘gaunt’ face; ‘collapsed’ temples; dry, crusty lips; and clammy forehead.

Marfanoid (Marfan 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 (CHAPTER 18).

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.

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) (CHAPTER 18).

Myopathic (myopathy/myasthenia gravis)

Facial characteristics include an expressionless, ‘tired’-looking face with bilateral ptosis.

Myotonic (dystrophia myotonia)

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

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 (CHAPTER 23).

Obese

The distinguishing feature from the ‘moon face’ of Cushing disease is the general roundness and uniform fatness of the face.

Pagetic (Paget 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 (CHAPTER 69).

Parkinsonian

Characteristic is the mask-like facies with lack of facial expression and fixed unblinking stare. There is immobility of the facial muscles (CHAPTER 33).

Peutz–Jeghers

Pigmented macules (1–5 mm in diameter) occur on lips, buccal mucosa and fingers.

Risus sardonicus

A grin-like appearance of hypertonic facial muscles (typical of tetanus).

Smoker's

A face older than the years with premature gross wrinkling of the skin, stained teeth, deep raspy voice, ‘loose’ cough, smell of tobacco.

Thyrotoxic (hyperthyroidism)

The prominent eyes (sclera may not be covered by the lower eyelid) and conjunctivitis are features of the thyrotoxic patient (CHAPTER 23). The thyroid stare (a frightened expression) may also be present (see FIG. 16.2).

Turner syndrome

The facial characteristics include ptosis—‘fishlike’ mouth, small chin (micrognathia), low-set ears and deafness. Cardiac lesions include coarctation of the aorta and pulmonary stenosis. Webbing of the neck is the classic sign (CHAPTER 18).

Uraemic

A sallow ‘muddy’ complexion with uraemic fetor—an ammoniacal halitosis.

Other classic facies (similes)

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 the sun

Chloasma/melasma

Increased browning pigmentation, usually confined to symmetrical areas of the cheeks (FIG. 16.3). Common in pregnancy and 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

• Down syndrome

Cataracts: risk factors

• Ageing

• Senility

• Corticosteroid therapy

• Diabetes

• Hypoparathyroidism

• Dystrophia myotonia

• Trauma (may be delayed)

• Ocular disease (e.g. glaucoma)

• Smoking

Telangiectasia

• Systemic sclerosis

• CREST syndrome

• Liver disease (e.g. alcoholism)

Cyanosis is a bluish discolouration of the skin and mucous membranes due to deoxygenated haemoglobin concentrated in the superficial blood vessels. The arterial oxygen saturation is 80–85% before it is clinically apparent. 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 (see FIG. 16.4).

Peripheral

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

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:

   • carcinoma

   • bronchiectasis

   • cystic fibrosis

   • abscess/empyema

   • pulmonary fibrosis

2. Heart disease:

   • infective endocarditis

   • cyanotic congenital heart disease (see FIG. 16.4)

3. Liver disease:

   • cirrhosis

4. Gastrointestinal disease:

   • ulcerative colitis

   • Crohn disease

   • coeliac disease

5. Congenital

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 disease (see CHAPTER 23)

• Cushing syndrome

• Ectopic ACTH syndrome

• AIDS

Metabolic

• Hyperthyroidism

• Haemochromatosis (see FIG. 16.5)

• Cirrhosis of the liver

• Porphyria cutanea tarda

• Chronic kidney failure

• Malnutrition/malabsorption

• Pregnancy

Drugs

• Amiodarone

• Antibiotics (busulphan, bleomycin, minocycline)

• Antimalarials (chloroquine/hydroxychloroquine)

• Arsenic, gold, silver

• Chemotherapy

• Dapsone

• Oral contraceptive pill (OCP)

• Phenothiazines

• Photochemotherapy (PUVA)

• Psoralens

• Thiazides

Tumours

• Lymphomas

• Acanthosis nigricans

• Metastatic melanoma