Multiple familial trichoepithelioma
Multiple familial trichoepithelioma (also known as "Brooke–Spiegler syndrome" and "Epithelioma adenoides cysticum") is a cutaneous condition characterized by multiple cystic and solid nodules appearing on the face.[1]:672
Classification
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.
Types include:
| Type | OMIM | Gene | Locus |
|---|---|---|---|
| MFT1 | 601606 | CYLD | 16q12-q13 |
| MFT2 | 612099 | ? | 9p21 |
Brooke-Spiegler syndrome
Brooke-Spiegler syndrome is a condition where multiple skin tumors that 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.
Tumours 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 reasons that are unclear females are often more severely affected than males.
Brooke-Spiegler is rare and its exact incidence is unknown.
It is inherited in an autosomal recessive fashion.
See also
- Trichofolliculoma
- List of cutaneous conditions
- List of cutaneous neoplasms associated with systemic syndromes
References
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