| Autor: |
Scholz IM; Department of Dermatology, University of Heidelberg, Germany. Ina.Scholz@med.uni-heidelberg.de, Nümann A, Froster UG, Helmbold P, Enk AH, Näher H |
| Jazyk: |
English; German |
| Zdroj: |
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG [J Dtsch Dermatol Ges] 2010 Feb; Vol. 8 (2), pp. 99-101. |
| DOI: |
10.1111/j.1610-0387.2009.07156_supp.x |
| Abstrakt: |
Brooke-Spiegler syndrome is a rare, autosomal dominant disease characterized by multiple skin appendage tumors caused by various mutations in the CYLD gene on chromosome 16q12-q13. We describe a family, in which we performed a molecular-genetic examination and found a new mutation in exon 19 in the CYLD gene leading to a frameshift. It is important to be aware of this syndrome and its pathogenesis as its phenotypic features can vary so that apparently different diseases are caused by the same genetic defect. In addition, there may be malignant transformation of the generally benign tumors, so that a timely diagnosis is essential for appropriate monitoring and therapy. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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