Diagnosis by Physical Examination Flashcards
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.
Chronic alcoholics (alcohol may produce a pseudo-Cushing syndrome)
Cushing disease
Polycythaemia
Thickening of the subcutaneous tissues
Chronic alcoholism
Acromegaly
Myxoedema (The puffiness of the eyelids may simulate the true subcutaneous oedema of kidney disease)
Diagnostic facies: Acromegalic
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
Marfan Syndrome
Subluxation of the lens of the eye
High-arched palate
Tall stature
Arachnodactyly
Chest deformities
Diagnostic facies: Adenoidal
Narrow nose/nares
High-arched palate (the ‘Gothic’ palate)
Prominent incisor teeth
Undershot jaw with a perpetually open mouth and ‘stupid’ expression
Diagnostic facies: Alcoholic
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)
Systemic sclerosis: CREST syndrome (bird-like)
Beaking of the nose
Limitation of mouth opening
Puckering or furrowing of the lips
Fixed facial expression
Telangiectasia on the face and hands
Diagnostic facies: Thalassaemia Major (Chipmunk)
Bossing of the skull
Hypertrophy of the maxillae (expose the upper teeth)
Prominent malar eminences
Depression of the bridge of the nose
Diagnostic facies: Choleric (similar to the Hippocratic facies)
Pale face with cold clammy skin
Sunken eyes
Hollow cheeks
Forlorn, apathetic look
Diagnostic facies: Hippocratic
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
Congenital syphilis (bulldog face)
Saddle nose due to the sunken bridge of the nose
Interstitial keratitis
Diagnostic facies: Cushingoid (moon shape)
Plethora (rubicund)
Hirsutism (more obvious in women)
Acne
Facial nerve palsy
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
Horner syndrome
Dysfunction of cervical sympathetic output
Ipsilateral:
Partial ptosis
Miosis
Enophthalmos
Anhidrosis
Diagnostic facies: Mitral disease
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
Down syndrome (Mongoloid face)
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)
Myopathy/myasthenia gravis (Myopathic face)
Expressionless
‘Tired’-looking face with bilateral ptosis
Dystrophia myotonia (Myotonic face)
Frontal baldness
Expressionless triangular facies
Partial ptosis
Cataracts
Temporal muscle atrophy
Myxoedemic (hypothyroidism)
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
Paget disease (Pagetic face)
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
Diagnostic facies: Parkinsonian
Mask-like facies with lack of facial expression
Fixed unblinking stare
Peutz–Jeghers
Pigmented macules (1–5 mm in diameter) occur on lips, buccal mucosa and fingers
Diagnostic facies: Risus sardonicus
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.
Diagnostic facies: 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
Diagnostic facies: Thyrotoxic (hyperthyroidism)
The prominent eyes (sclera may not be covered by the lower eyelid) and conjunctivitis.
The thyroid stare (a frightened expression)
Turner syndrome
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
Uraemic Syndrome
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
Enlarged tongue
Acromegaly
Hypothyroidism
Amyloidosis
Down syndrome
Telangiectasia
Systemic sclerosis / CREST syndrome
Liver disease (e.g. alcoholism)
Clubbing of fingers: Lung disease
carcinoma
bronchiectasis
cystic fibrosis
abscess/empyema
pulmonary fibrosis
Clubbing of fingers: Heart disease
infective endocarditis
cyanotic congenital heart disease
Clubbing of fingers: Liver disease
cirrhosis
Clubbing of fingers: Gastrointestinal disease
Ulcerative colitis
Crohn disease
Coeliac disease
Increased general pigmentation: Drugs
Amiodarone
Antibiotics (busulphan, bleomycin, minocycline)
Antimalarials (chloroquine/hydroxychloroquine)
Arsenic, gold, silver
Chemotherapy
Dapsone
Oral contraceptive pill (OCP)
Phenothiazines
Photochemotherapy (PUVA)
Psoralens
Thiazides
Increased general pigmentation: Tumours
Lymphomas
Acanthosis nigricans
Metastatic melanoma
