Schwannoma — SCE Dermatology MCQ
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Correct answer: A — Refer for genetics evaluation including NF2, SMARCB1 and LZTR1-related schwannomatosis
Explanation lettering: D = shown as A · E = shown as B · B = shown as D · A = shown as E
D is correct. Multiple schwannomas in a young adult raise a schwannomatosis spectrum disorder. Modern classification recognizes NF2-related, SMARCB1-related and LZTR1-related schwannomatosis, and mosaic disease can make blood testing and phenotype interpretation complex. Absence of bilateral vestibular schwannomas does not establish sporadic disease or exclude mosaic NF2-related disease. NF1 is characterized mainly by neurofibromas and other diagnostic features, while RET causes MEN2 rather than schwannomatosis. Genetics referral guides testing strategy, tumour surveillance and counselling of relatives.
Reference: GeneReviews: schwannomatosis: https://www.ncbi.nlm.nih.gov/books/NBK487394/