Brooke-Spiegler Syndrome

đź’ˇ
Spiradenomas, cylindromas, trichoepitheliomas, salivary gland tumors
 
 
Etiology
  • Mutations in cylindromatosis (CYLD) gene
    • A tumor suppressor gene
    • located on chromossome 16q12-13
    • CYLD is a deubiquinating enzyme that normally interacts with NEMO to downregulate NF-kB expression
  • Transmission
    • Autossomal dominant
  • Familial cylindromatosis due to phenotypic variants of this genetic disease
 
Clinical presentation
  • Tumores derivados do botĂŁo folicular (adolescence/early adulthood)
    • Tricoepitelioma → Tumores indiferenciados de origem folicular
      • skin-colored to white small facial papules
    • Espiradenoma e cilindroma → tumor das glândulas apĂłcrinas (controverso)
      • Cylindromas (papules/nodules on scalp)
      • Spiradenomas (painful nodules on head/neck and elsewhere)
      • Malignant degeneration into cylindro and spiradenocarcinoma
    • Multiple BCCs
  • Extracutaneous
    • Salivary and parotid gland tumors