New mutation in the CYLD gene within a family with Brooke-Spiegler syndrome

Ina M Scholz; Astrid Nümann; Ursula G Froster; Peter Helmbold; Alexander H Enk; Helmut Näher

doi:10.1111/j.1610-0387.2009.07156_supp.x

New mutation in the CYLD gene within a family with Brooke-Spiegler syndrome

J Dtsch Dermatol Ges. 2010 Feb;8(2):99-101. doi: 10.1111/j.1610-0387.2009.07156_supp.x.

[Article in English, German]

Authors

Ina M Scholz¹, Astrid Nümann, Ursula G Froster, Peter Helmbold, Alexander H Enk, Helmut Näher

Affiliation

¹ Department of Dermatology, University of Heidelberg, Germany. [email protected]

PMID: 20151946
DOI: 10.1111/j.1610-0387.2009.07156_supp.x

Abstract

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.

Publication types

Case Reports

MeSH terms

Adenoma, Sweat Gland / diagnosis
Adenoma, Sweat Gland / genetics
Adenoma, Sweat Gland / pathology
Adolescent
Adult
Biopsy
Carcinoma, Adenoid Cystic / diagnosis
Carcinoma, Adenoid Cystic / genetics*
Carcinoma, Adenoid Cystic / pathology
Carcinoma, Basal Cell / diagnosis
Carcinoma, Basal Cell / genetics
Carcinoma, Basal Cell / pathology
Chromosome Aberrations
Chromosomes, Human, Pair 16 / genetics
DNA Mutational Analysis*
Deubiquitinating Enzyme CYLD
Exons / genetics
Facial Neoplasms / diagnosis
Facial Neoplasms / genetics*
Facial Neoplasms / pathology
Female
Frameshift Mutation*
Genes, Dominant / genetics
Humans
Male
Middle Aged
Neoplasms, Multiple Primary / diagnosis
Neoplasms, Multiple Primary / genetics*
Neoplasms, Multiple Primary / pathology
Nose Neoplasms / genetics
Nose Neoplasms / pathology
Phenotype
Scalp*
Skin / pathology
Skin Neoplasms / diagnosis
Skin Neoplasms / genetics*
Skin Neoplasms / pathology
Syndrome
Tumor Suppressor Proteins / genetics*

Substances

Tumor Suppressor Proteins
CYLD protein, human
Deubiquitinating Enzyme CYLD