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Pathophysiology:
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant familial tumor syndrome in which persons develop tumors of the parathyroid glands, the enteropancreatic neuroendocrine system, the anterior pituitary gland, and the skin. In people without MEN1 , two independent somatic mutations must occur within a single cell for tumor formation. In an individual with MEN1, the first mutation is already present in all of the patient's cells, so that only a single somatic mutation is required.
Statistics:
The incidence of multiple endocrine neoplasia type 1 (MEN1) is equal for men and women. The frequencies of most tumors are similar in men and women, except bronchial carcinoids are more common in women and thymic carcinoids are more common in men.
Treatment:
The methods include shave excision, dermabrasion, carbon dioxide laser, and combined pulsed dye laser and fractional resurfacing. Cosmetic improvement of facial angiofibromas in patients with MEN1 has been obtained with shave excision. In some cases, lesions treated in this way have slowly reappeared. Collagenomas and lipomas can be excised, and lipomas can also be treated by liposuction.
Major Research:
Genetic testing identifies pathogenic variants in approximately 80%-90% of individuals who meet clinical diagnostic criteria for MEN1 and have a family history of MEN1-related tumors. A pathogenic variant is found in 65% of cases of individuals who meet diagnostic criteria but have no family history.
