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Brooke-Spiegler syndrome

ORPHA79493
Synonym(s) -
Prevalence -
Inheritance -
Age of onset -
ICD-10 -
OMIM
UMLS
  • C1857941
MeSH
  • C536611
MedDRA -

Summary

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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