familial cylindromatosis; Ancell-Spiegler cylindromas; dermal eccrine cylindromatosis; turban tumor syndrome

Pathology

• highly tumor type-specific disorder
• cylindromas are believed to arise from eccrine glands or apocrine cells
• skin tumors may show differentiation in the direction of hair structures, thus trichoepitheliomas

Genetics

• autosomal dominant
• caused by mutations in the CYLD1 gene

Clinical manifestations

• cylindromas arise predominantly in hairy parts of the body with ~90% on the head & neck
• trichoepitheliomas
• spiradenomas
• development of a confluent mass which may ulcerate or become infected has led to the designation turban tumor syndrome

Laboratory

skin biopsy

Differential diagnosis

• neurofibromatosis

Management

• surgery
  • if lesions result in function impairment or compromise
  • cosmetic

Notes

• Spiegler-Brooke syndrome, Brooke-Fordyce trichoepitheliomas & familial cylindromatosis represent autosomal dominant disorders associated with the same gene, CYLD1

More general terms

• hereditary neoplastic syndrome; cancer susceptibility syndrome

Additional terms

• cylindroma
• multiple familial trichoepithelioma type 1; epithelioma adenoides cysticum of Brooke; hereditary multiple benign cystic epithelioma; Brooke-Fordyce trichoepitheliomas
• Spiegler-Brooke syndrome
• ubiquitin carboxyl-terminal hydrolase CYLD; deubiquitinating enzyme CYLD; ubiquitin thiolesterase CYLD; ubiquitin-specific-processing protease CYLD (CYLD, CYLD1, KIAA0849, HSPC057)

Patient information

familial cylindromatosis patient information

Database

• OMIM: https://mirror.omim.org/entry/132700
• OMIM: https://mirror.omim.org/entry/605018