New mutation in the CYLD gene within a family with Brooke-Spiegler syndrome.
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.
Department of Dermatology, University of Heidelberg, Germany. Ina.Scholz@med.uni-heidelberg.de
Ina M
IM
Scholz
Astrid
A
Nümann
Ursula G
UG
Froster
Peter
P
Helmbold
Alexander H
AH
Enk
Helmut
H
Näher
D006607:Adenoma, Sweat Gland / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D000293:Adolescent; D000328:Adult; D001706:Biopsy; D003528:Carcinoma, Adenoid Cystic / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002280:Basal Cell Carcinoma / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D002869:Chromosome Aberrations; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D004252:DNA Mutational Analysis; D000074749:Deubiquitinating Enzyme CYLD; D005091:Exons / Q000235:genetics; D005153:Facial Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D016368:Frameshift Mutation; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D009669:Nose Neoplasms / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D012535:Scalp; D012867:Skin / Q000473:pathology; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D013577:Syndrome; D025521:Tumor Suppressor Proteins / Q000235:genetics*
D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD