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Multiple familial trichoepithelioma is a genetic disorder characterized by multiple smooth, round, firm, skin-colored tumors (trichoepitheliomas) that usually occur on the face, but may also occur on the scalp, neck, and trunk. The tumors are from immature hair follicles. They usually first develop during childhood or adolescence and may grow larger and increase in number over time. The genetic disorder can be caused by mutations in the _CYLD _gene or by mutations in other genes which are still unknown. The condition may be divided in two subtypes, multiple familial trichoepithelioma type 1 and multiple familial trichoepithelioma type 2. Susceptibility to multiple familial trichoepithelioma is inherited in an autosomal dominant fashion, which means one copy of the mutated gene in each cell increases the risk of developing this disorder. However, a second, non-inherited (acquired) mutation is required for the tumors to develop in this disorder. Treatment often involves surgery to remove a single lesion and cryosurgery or laser surgery for multiple ones.
Source: GARD Last updated on 05-01-20
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