 |
|
A Novel Missense Mutation in the CYLD Gene in a Spanish Family With Multiple Familial Trichoepithelioma
Agustín España, MD;
Fermin García-Amigot, PhD;
Leyre Aguado, MD;
Jesús García-Foncillas, MD
Arch Dermatol. 2007;143(9):1209-1210.
|
|
| Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. |
|
|
|
Brooke-Spiegler syndrome (BSS) includes the combination of spiradenomas, cylindromas, and trichoepitheliomas. It has been postulated that BSS results from defects in the regulation of putative stem cells of the folliculosebaceous-apocrine unit.1 This follicular dysregulation may give rise to 3 different genodermatoses: familial cylindromatosis (FC), multiple familial trichoepithelioma (MFT), or the classic triad of BSS.
The gene for FC was mapped to chromosome 16q12-q13.2 At present, 32 different germline mutations in the CYLD gene have been described,3 20 in families with FC, 8 in families with MFT, and 4 in families with BSS. Taken together, these observations suggest that these inherited syndromes associated with skin appendage tumors not only share a common genetic basis but also may represent phenotypic variation of the same disease.4
Report of a Case
An 8-year-old girl came to our department with her parents. Her mother, grandmother, and 2 . . . [Full Text of this Article]
Comment
AUTHOR INFORMATION
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati  Twitter
What's this?
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
|
CYLD mutations in familial skin appendage tumours
Saggar et al.
J. Med. Genet. 2008;45:298-302.
ABSTRACT
| FULL TEXT
Dermatology and the Human Genome: An Epidemiologic Approach
Gwinn and Khoury
Arch Dermatol 2007;143:1194-1196.
FULL TEXT
|
