Spiegler-Brooke syndrome

Genetics: - autosomal dominant - associated with defects in CYLD1 Clinical manifestations: - appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, & spiradenoma - tumors are typically located in the head & neck region, appear in early adulthood, & gradually increase in size & number throughout life Note: - Spiegler-Brooke syndrome, Brooke-Fordyce trichoepitheliomas & familial cylindromatosis represent autosomal dominant disorders associated with the same gene, CYLD1

Related

familial cylindromatosis; Ancell-Spiegler cylindromas; dermal eccrine cylindromatosis; turban tumor syndrome multiple familial trichoepithelioma type 1; epithelioma adenoides cysticum of Brooke; hereditary multiple benign cystic epithelioma; Brooke-Fordyce trichoepitheliomas 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 SPIRADENOMA trichoepithelioma

References

OMIM :accession 605041