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Brooke-Spiegler syndrome

Synonym(s) -
Prevalence -
Inheritance -
Age of onset -
ICD-10 -
  • C1857941
  • C536611
MedDRA -


Brooke-Spiegler syndrome (BSS) is an autosomal dominantly inherited predisposition syndrome presenting with skin appendage tumors, including cylindromas, trichoepitheliomas, spiradenomas and major and minor salivary glands neoplasms. Familial cylindromatosis (FC) and multiple familial trichoepithelioma (MFT) (see these terms) represent the 2 ends within the spectrum of BSS.

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