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Dentistry · Oral medicine and oral cancer: hereditary haemorrhagic telangiectasia
Sample itemA 35-year-old woman has recurrent epistaxis and small red-purple blanching spots on the lips and tongue. Her father had similar spots and gastrointestinal bleeding. What is the most likely diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
B. Hereditary haemorrhagic telangiectasia
Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu) is autosomal dominant and causes mucocutaneous telangiectasias, recurrent epistaxis, gastrointestinal bleeding and visceral arteriovenous malformations. The oral lesions are small, red and blanch on pressure. Bleeding during dental procedures should be anticipated.
Option by option
A. Von Willebrand disease
Von Willebrand disease causes mucosal bleeding but not discrete telangiectatic spots.
B. Hereditary haemorrhagic telangiectasia (correct)
Correct. Familial telangiectasias of the lips and tongue with epistaxis and bleeding are typical.
C. Sturge-Weber syndrome
Sturge-Weber shows a facial port-wine stain, usually unilateral, with leptomeningeal angiomatosis.
D. Peutz-Jeghers syndrome
Peutz-Jeghers gives flat brown-black perioral macules and intestinal polyps, not blanching red spots.
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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