Multiple familial trichoepithelioma
|Multiple familial trichoepithelioma|
|Other names||Brooke–Spiegler syndrome and Epithelioma adenoides cysticum|
Multiple familial trichoepithelioma is a cutaneous condition characterized by multiple cystic and solid nodules appearing on the face.:672
The classification of this syndrome is difficult. Three conditions are known to be caused by mutations in the CYLD gene: Brooke–Spiegler syndrome, multiple familial trichoepithelioma, and familial cylindromatosis. Clinically, these are distinct, but appear to arise from mutations in the same gene.
Brooke–Spiegler syndrome (named after the dermatologists Henry Ambrose Grundy Brooke and Eduard Spiegler) is a condition in which multiple skin tumors develop from skin structures. Tumors commonly occurring in this syndrome include spiradenomas, trichoepitheliomas, and cylindromas. The tumors are generally benign, but may become malignant. Affected individuals are also at increased risk of developing tumors in tissues other than skin – particularly benign or malignant tumors of the salivary glands.
Tumors in Brooke–Spiegler typically appear in early adulthood and are most often found on the head and neck. In severe cases, the tumors may affect vision or hearing. They can be disfiguring and may contribute to depression or other psychological problems. For unclear reasons, females are often more severely affected than males.
Brooke–Spiegler is rare and its exact incidence is unknown.
It is inherited in an autosomal dominant fashion.
- List of cutaneous conditions
- List of cutaneous neoplasms associated with systemic syndromes