Brooke-Spiegler Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A rare autosomal dominant genodermatosis associated with germline mutations of the CYLD tumor suppressor gene. It is characterized by the development of multiple adnexal tumors (usually cylindromas and trichoepitheliomas), typically in the skin of the scalp. It manifests with numerous papules and/or large dome-shaped nodules on the scalp, resembling a turban.

**Synonyms:** - Ancell-Spiegler Syndrome - BSS - TTS - Turban Tumor - Turban Tumor Syndrome - Turban tumor