Diagnosis by Physical Examination

Question 1

Plethoric complexion

Plethoric complexion means having a very red or flushed face. It’s like having too much blood flow to your skin, making it look reddish or flushed.

Answer 1

Chronic alcoholics (alcohol may produce a pseudo-Cushing syndrome)

Cushing disease

Polycythaemia

Question 2

Thickening of the subcutaneous tissues

Answer 2

Chronic alcoholism

Acromegaly

Myxoedema (The puffiness of the eyelids may simulate the true subcutaneous oedema of kidney disease)

Question 3

Diagnostic facies: Acromegalic

Answer 3

Enlarged characteristic face: Large supra-orbital ridge that causes frontal bossing, a broad nose and a prominent broad and square lower jaw

Enlarged tongue

Soft tissue swelling of the nose, lips and ears

Question 4

Marfan Syndrome

Answer 4

Subluxation of the lens of the eye

High-arched palate

Tall stature

Arachnodactyly

Chest deformities

Question 5

Diagnostic facies: Adenoidal

Answer 5

Narrow nose/nares

High-arched palate (the ‘Gothic’ palate)

Prominent incisor teeth

Undershot jaw with a perpetually open mouth and ‘stupid’ expression

Question 6

Diagnostic facies: Alcoholic

Answer 6

Plethoric face

Thickened ‘greasy’ skin

Rhinophyma + Telangiectasia

Suffused (‘bloodshot’) conjunctivae (AKA: RED EYE - 4U Dr. Mo)

Rosacea

Parotid swelling

Prominent lower lip with
cheilitis of corners of mouth

Smell of stale alcohol or very ‘minty’ sweet breath (masking effect)

Question 7

Systemic sclerosis: CREST syndrome (bird-like)

Answer 7

Beaking of the nose

Limitation of mouth opening

Puckering or furrowing of the lips

Fixed facial expression

Telangiectasia on the face and hands

Question 8

Diagnostic facies: Thalassaemia Major (Chipmunk)

Answer 8

Bossing of the skull

Hypertrophy of the maxillae (expose the upper teeth)

Prominent malar eminences

Depression of the bridge of the nose

Question 9

Diagnostic facies: Choleric (similar to the Hippocratic facies)

Answer 9

Pale face with cold clammy skin

Sunken eyes

Hollow cheeks

Forlorn, apathetic look

Question 10

Diagnostic facies: Hippocratic

Answer 10

This describes the deathly, mask-like features of advanced peritonitis or streptococcal septicaemia

Sunken eyes

‘Gaunt’ face

‘Collapsed’ temples

Dry and crusty lips

Clammy forehead

Question 11

Congenital syphilis (bulldog face)

Answer 11

Saddle nose due to the sunken bridge of the nose

Interstitial keratitis

Question 12

Diagnostic facies: Cushingoid (moon shape)

Answer 12

Plethora (rubicund)

Hirsutism (more obvious in women)

Acne

Question 13

Facial nerve palsy

Answer 13

Unilateral drooping of the corner of the mouth

Flattening of the nasolabial fold

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

Question 14

Horner syndrome

Answer 14

Dysfunction of cervical sympathetic output

Ipsilateral:

Partial ptosis
Miosis
Enophthalmos
Anhidrosis

Question 15

Diagnostic facies: Mitral disease

Answer 15

Mitral valve disease, especially mitral stenosis

Flushed or rosy cheeks with a bluish tinge (dilatation of the malar capillaries).

It is associated with pulmonary hypertension

Question 16

Down syndrome (Mongoloid face)

Answer 16

Lowset ears

Protruding tongue

Mongoloid slant of the eyes with epicanthic folds

Mouth hanging

Facial flat profile with crowded features

Round head

Dysplastic open and peripheral silver iris spots (Brushfield spots)

Question 17

Myopathy/myasthenia gravis (Myopathic face)

Answer 17

Expressionless

‘Tired’-looking face with bilateral ptosis

Question 18

Dystrophia myotonia (Myotonic face)

Answer 18

Frontal baldness

Expressionless triangular facies

Partial ptosis

Cataracts

Temporal muscle atrophy

Question 19

Myxoedemic (hypothyroidism)

Answer 19

Apathetic look and is ‘puffy’ with possible periorbital oedema

Broadening of the lower part of the face

Skin (not the sclera) may appear yellow (due to hypercarotenaemia), dry and coarse

Thin, coarse and listless hair

Loss or thinning of the outer third of the eyebrows

Enlarged tongue

Speaks with a ‘thickened’, croaking, slow speech

Question 20

Paget disease (Pagetic face)

Answer 20

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.

Increased bony warmth

Deafness

Question 21

Diagnostic facies: Parkinsonian

Answer 21

Mask-like facies with lack of facial expression

Fixed unblinking stare

Question 22

Peutz–Jeghers

Answer 22

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

Question 23

Diagnostic facies: Risus sardonicus

Answer 23

Tetanus, strychnine poisoning and Wilson’s disease

A grin-like appearance of hypertonic facial muscles

Risus sardonicus is a diagnostic facial expression characterized by a sustained, abnormal grin. It is often associated with tetanus, where the facial muscles are involuntarily contracted, giving a sinister, grin-like appearance. This condition can also be seen in other neurological disorders or poisonings, such as strychnine poisoning.

For more detailed information, you can refer to the RACGP guidelines on identifying and managing tetanus and related conditions here.

Question 24

Diagnostic facies: Smoker’s

Answer 24

A face older than the years with premature gross wrinkling of the skin

Stained teeth

Deep raspy voice

‘Loose’ cough

Smell of tobacco

Question 25

Diagnostic facies: Thyrotoxic (hyperthyroidism)

Answer 25

The prominent eyes (sclera may not be covered by the lower eyelid) and conjunctivitis.

The thyroid stare (a frightened expression)

Question 26

Turner syndrome

Answer 26

Ptosis—‘fish-like’ mouth

Small chin (micrognathia)

Low-set ears and deafness.

Webbing of the neck (classic sign)

Cardiac lesions: Coarctation of the aorta and pulmonary stenosis

Question 27

Uraemic Syndrome

Answer 27

A sallow ‘muddy’ complexion with uraemic fetor

Ammoniacal halitosis

Uraemic syndrome, or uremia, occurs when the kidneys are unable to filter waste products from the blood effectively. This leads to a build-up of toxins and other waste products in the body, causing various symptoms and complications.

• Kidney Failure: The primary cause is chronic kidney disease (CKD) or acute kidney injury (AKI), where the kidneys lose their ability to function properly.
• Reduced Filtration: When kidneys can’t filter blood efficiently, waste products like urea and creatinine accumulate in the bloodstream.

• Fatigue: Due to the accumulation of waste products and toxins in the blood, which affects the body’s overall energy levels.
• Nausea and Vomiting: As toxins build up, they can irritate the digestive system.
• Loss of Appetite: The presence of toxins can make food unappealing.
• Itching: Waste products can cause skin irritation.
• Swelling (Edema): Poor kidney function leads to fluid retention, causing swelling in the legs, ankles, and face.
• Muscle Cramps: Electrolyte imbalances caused by kidney dysfunction can lead to muscle cramps.
• Mental Confusion: Toxins in the blood can affect brain function, leading to confusion or difficulty concentrating.
• Breath Odor: A distinctive ammonia-like odor can develop due to high levels of urea in saliva.

• Blood Tests: High levels of urea and creatinine in the blood.
• Urine Tests: Assess kidney function and detect abnormal substances.
• Imaging Tests: Ultrasound or CT scans to evaluate kidney size and structure.

• Dialysis: A procedure that artificially removes waste products and excess fluid from the blood when kidneys are not functioning well.
• Medications: To manage symptoms and complications such as high blood pressure, anemia, and electrolyte imbalances.
• Dietary Changes: Low-protein diet to reduce the production of waste products.
• Kidney Transplant: For patients with end-stage kidney disease, a transplant may be necessary.

Uraemic syndrome is a serious condition resulting from kidney failure, leading to the build-up of toxins in the blood. It presents with a variety of symptoms like fatigue, nausea, swelling, and confusion. Treatment primarily involves managing the symptoms and underlying causes, with dialysis and kidney transplantation being options for advanced cases.

For more detailed information, you can refer to reliable medical sources such as:
- RACGP guidelines on kidney disease
- National Kidney Foundation
- Mayo Clinic

Question 28

Enlarged tongue

Answer 28

Acromegaly

Hypothyroidism

Amyloidosis

Down syndrome

Question 29

Telangiectasia

Answer 29

Systemic sclerosis / CREST syndrome

Liver disease (e.g. alcoholism)

Question 30

Clubbing of fingers: Lung disease

Answer 30

carcinoma

bronchiectasis

cystic fibrosis

abscess/empyema

pulmonary fibrosis

Question 31

Clubbing of fingers: Heart disease

Answer 31

infective endocarditis

cyanotic congenital heart disease

Question 32

Clubbing of fingers: Liver disease

Answer 32

cirrhosis

Question 33

Clubbing of fingers: Gastrointestinal disease

Answer 33

Ulcerative colitis

Crohn disease

Coeliac disease

Question 34

Increased general pigmentation: Drugs

Answer 34

Amiodarone

Antibiotics (busulphan, bleomycin, minocycline)

Antimalarials (chloroquine/hydroxychloroquine)

Arsenic, gold, silver

Chemotherapy

Dapsone

Oral contraceptive pill (OCP)

Phenothiazines

Photochemotherapy (PUVA)

Psoralens

Thiazides

Question 35

Increased general pigmentation: Tumours

Answer 35

Lymphomas

Acanthosis nigricans

Metastatic melanoma