multiple familial trichoepithelioma type 1; epithelioma adenoides cysticum of Brooke; hereditary multiple benign cystic epithelioma; Brooke-Fordyce trichoepitheliomas

Pathology

• dermal aggregates of basaloid cells with connection to or differentiation toward hair follicles
• thought to represent a benign hamartoma of the pilosebaceous apparatus

Genetics

• autosomal dominant
• associated with defects in CYLD1

Clinical manifestations

• presence of many skin tumors predominantly on the face

Complications

• trichoepitheliomas can degenerate into basal cell carcinoma

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

• 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)

Patient information

multiple familial trichoepithelioma type-1 patient information

Database

• OMIM: https://mirror.omim.org/entry/601606