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.
Scholz
Ina M
IM
Department of Dermatology, University of Heidelberg, Germany. Ina.Scholz@med.uni-heidelberg.de
Nümann
Astrid
A
Froster
Ursula G
UG
Helmbold
Peter
P
Enk
Alexander H
AH
Näher
Helmut
H
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