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Dermatology · Pigmentary disorders: Carney complex
Sample itemA young woman has facial lentigines, epithelioid blue naevi, an atrial myxoma and primary pigmented nodular adrenocortical disease. Which gene is most often mutated?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
B. PRKAR1A
Carney complex is an autosomal dominant syndrome from PRKAR1A mutations. It presents with spotty pigmentation, myxomas of the heart and skin, and endocrine tumours.
Option by option
A. STK11
STK11 mutations cause Peutz-Jeghers syndrome, with mucocutaneous lentigines and GI polyps.
B. PRKAR1A (correct)
Correct. PRKAR1A mutations cause Carney complex.
C. MEN1
MEN1 mutations cause pituitary, parathyroid and pancreatic tumours.
D. PTEN
PTEN mutations cause Cowden syndrome, with trichilemmomas and breast and thyroid cancers.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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