C205364Level 7
Familial Multiple Trichoepitheliomas
**Semantic type:** Disease or Syndrome
**Definition:** A rare autosomal dominant inherited disorder associated with germline mutations of the CYLD tumor suppressor gene. It is characterized by the development of multiple trichoepitheliomas in the central face and sometimes on the scalp, neck, or trunk.
**Synonyms:** - Multiple Familial Trichoepithelioma - Multiple Familial Trichoepitheliomas
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