Syndrome in question. Brooke-Spiegler syndrome

An Bras Dermatol. Jan-Feb 2014;89(1):175-6. doi: 10.1590/abd1806-4841.20142194.


Brooke-Spiegler syndrome is an autosomal dominant disorder with variable penetrance and expression. It is characterized by a genetic predisposition to develop multiple adnexal neoplasias: cylindromas, trichoepitheliomas, and trichoblastomas. We describe a 54-year-old male patient with cylindromas, trichoepitheliomas, and trichoblastoma.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Carcinoma, Adenoid Cystic / genetics
  • Carcinoma, Adenoid Cystic / pathology
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Neoplastic Syndromes, Hereditary / genetics
  • Neoplastic Syndromes, Hereditary / pathology*
  • Skin Neoplasms / genetics
  • Skin Neoplasms / pathology*

Supplementary concepts

  • Familial cylindromatosis