[Brooke-Spiegler syndrome: an heterogeneous entity].
The Brooke-Spiegler syndrome is a rare, autosomally dominant disease with a predisposition to develop different adnexal tumors. Clinically it is characterized by the presence of multiple cylindromas, trichoepitheliomas, and occasionally, spiradenomas. Although Brooke-Spiegler syndrome, familial cylindromatosis and multiple familial trichoepithelioma were initially described as separate entities, the recently identified identical mutations in the gene of cylindromatosis suggest that they represent fenotypic variations of the same entity. In this article we present the case of a woman and her daughter, both affected by this rare genodermatosis.
Mataix
J
J
Servicio de Dermatología, Hospital General Universitario de Alicante, Spain. mataixdiaz@hotmail.com
Bañuls
J
J
Botella
R
R
Laredo
C
C
Lucas
A
A
D000328:Adult; D003528:Carcinoma, Adenoid Cystic / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D000074749:Deubiquitinating Enzyme CYLD; D005153:Facial Neoplasms / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D018295:Neoplasms, Basal Cell / Q000175:diagnosis / Q000235:genetics*; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis / Q000235:genetics*; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D010641:Phenotype; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD