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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
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)
General
hereditary neoplastic syndrome; cancer susceptibility syndrome
Database Correlations
OMIM 601606
References
OMIM :accession 601606