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Brooke-Spiegler syndrome

Disease definition

A rare genetic disease characterized as an inherited skin tumour predisposition syndrome presenting with skin appendage tumours, namely cylindromas, spiradenomas and trichoepitheliomas

ORPHA:79493

Classification level: Disorder
  • Synonym(s):
    • CYLD cutaneous syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent, Adult
  • ICD-10: -
  • OMIM: 132700  601606  605041  612099
  • UMLS: C1857941
  • MeSH: C536611
  • GARD: 10179
  • MedDRA: -

Detailed information

Professionals

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