Spot Diagnosis

Question 1

Clubbing…what else to examine?

Answer 1

• Palpate the wrist (hypertrophic pulmonary osteoarthropathy from bronchogenic carcinoma).
• Look for nicotine staining, central cyanosis and clubbed toes.
• Examine chest: (bronchogenic carcinoma, fibrosing alveolitis, bronchiectasis, lung abscess/empyema).
• Examine the heart: (cyanotic congenital heart disease, infective endocarditis (check for splinter haemorrhages on nail beds).
• Examine abdomen: (liver cirrhosis, Crohn’s disease, ulcerative colitis).
• Ask about family history (inherited).

Question 2

Purple discoloration around eye

Answer 2

Heliotrope rash assx with dermatomyositis

Muscle weakness
Look for erythematous rash in sun exposed areas
Gottrons papules (red scaly nuckles)
Ask about dysphagia, dysphonia, if over >40 may have malignancy (could be anywhere)

Question 3

Red scaly knuckles

Answer 3

Gottrons papules

Assx dermatomyositis
Look for heliotrope rash, muscle weakness, erythema

Question 4

Gouty tophi causes

Answer 4

Caused by chronic hyperuricemia

Primary: rare enzyme def
Secondary: increased uric acid production, alcohol, lymphoproliferative disorders
Decreased excretion , renal failure, thiazide diuretics, ciclosporin

Question 5

Bluish red plaque on nose (also cheeks and ears)

Answer 5

Lupus pernio
One of the more common forms of cutaneous sarcoid

Ask about other signs of sarcoid
Erythema nodosum, parotid swelling, sarcoid plaques, lung/occular/neuro involvement

Question 6

Pigmented macules on lips

Diagnosis
Also examine…

Answer 6

Peutz jeghers syndrome

Auto Dom
Abdo pain (intessusception secondary to polyps) and GIB
Polyps predispose to malignancy

Question 7

Signs of patient with Down’s syndrome

Answer 7

Low set ears, epicanthic folds

Bushfield spots (yellow speckles in iris)
Single palmar crease
ASDs 
Mitral regurge
Hypothyroidism

Question 8

Blue sclera

Answer 8

Osteogenesis imperfecta (auto Dom, fractures, hearing loss)
Marfan / Ehlers Danlos

• blue color is caused by thinness / transparency of the collagen fibers of the sclera

Question 9

Noonan’s syndrome

Answer 9

Cubitus valgus (forearm is angled out away from the body when arm fully extended)
Webbed neck
Short stature
Pulmonary stenosis (ES in pul, louder with insp)

Question 10

DVT Mx

Answer 10

At least 3 months

unprovoked offer thrombophilia testing

Question 11

HIV, on zidovudine or stavudine

Sunken cheeks and central fat

Answer 11

HIV-associated lipodystrophy

Assx w nucleoside reverse transcriptase inhibitors (NRTI)

Question 12

Photosensitive rash

Answer 12

General sensitivity- polymorphic light eruption

Drugs- doxycycline, Methotrexate

Porphyria cutanea tarda - in HIV, hep C, alcohol, liver iron

Lupus - with joint pain

Dermatomyositis - with muscle weakness

Question 13

port-wine birthmark

Answer 13

Sturge-Weber syndrome

Seizures, headaches, developmental delay, glaucoma

Question 14

features of neurofibromatosis

Answer 14

cafe au lait spots, neurofibromas, lisch nodules on iris, scoliosis

Type 2 get 2 acoustic neuromas

Question 15

reduced tone , cateracts, club foot, pacemaker

Answer 15

Myotonic dystrophy - arrhythmias / conduction blocks, sometimes dilated cardiomyopathy

DM1 is hands, feet, neck, or face. Delayed grip release (myotonia))
Life expectancy late- or adult onset DM1 is in the early 50s

Both Auto Dom, generally worsens with each generation