By Gary M. White, MD
Multiple endocrine neoplasia type 1 (MEN1) is an AD inherited syndrome characterized by the combination of hyperparathyroidism, endocrine gastroenteropancreatic tract adenomas, and pituitary adenomas. Multiple facial angiofibromas may occur as well. Thus multiple facial angiofibromas can no longer be considered pathonogmonic for tuberous sclerosis.
With regard to the skin, patients present in childhood with multiple small reddish-brown, smooth papules typically over the nose, nasolabial folds, cheeks, and chin in a butterfly distribution. Other possible skin findings include collagenomas, lipomas, confetti-like hypopigmented macules and multiple gingival papules).
In one study of 32 patients with MEN1 [Arch Dermatol. 1997 Jul;133(7):853], the following incidences were found:
|At least one angiofibroma||88%|
|5 or more angiofibromas||50%|
|Cafe au lait macule||38%|
|Confetti-like hypopigmented macules||6%|
|Multiple gingival papules||6%|
A 28-year-old man presented with multiple bumps on the face and a flesh colored papule on the back. Biopsy confirmed angiofibromas of the face and a collagenoma on the back. His mother had a history of two parathyroid adenomas as well as a pituitary adenoma. Genetic testing showed a mutation in the MEN1 gene. Dermatology Online Journal, 20(9)
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