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: 1) cylindromas arise predominantly in hairy parts of the body with ~90% on the head & neck 2) trichoepitheliomas 3) spiradenomas 4) 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

Related

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)

Properties

ASSOCIATED-NEOPLASM[S]: cylindroma epithelioma

Database Correlations

OMIM correlations MORBIDMAP 605018

References

OMIM :accession 132700