MULTIPLE ENDOCRINE NEOPLASIA, TYPE 1

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.

Clinical

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:

Feature Percent
At least one angiofibroma 88%
5 or more angiofibromas 50%
Collagenoma 72%
Cafe au lait macule 38%
Lipomas 34%
Confetti-like hypopigmented macules 6%
Multiple gingival papules 6%

References

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)

RegionalDerm

Homepage | FAQs | Use of Images | Contact Dr. White


It is not the intention of RegionalDerm.com to provide specific medical advice, diagnosis or treatment. RegionalDerm.com only intends to provide users with information regarding various medical conditions for educational purposes and will not provide specific medical advice. Information on RegionalDerm.com is not intended as a substitute for seeking medical treatment and you should always seek the advice of a qualified healthcare provider for diagnosis and for answers to your individual questions. Information contained on RegionalDerm.com should never cause you to disregard professional medical advice or delay seeking treatment. If you live in the United States and believe you are having a medical emergency call 911 immediately.