Pathogenic mutations in CYLD can be identified in patients affected with 
Brooke-Spiegler syndrome, (Familial) Cylindromatosis or multiple familial 
trichoepithelioma. To date, only technologies which are able to identify small 
point mutations in CYLD, such as sequence and WAVE analysis, were used. Here we 
describe the identification of a larger rearrangement identified by Quantitative 
PCR analysis of CYLD, indicating that a combination of these technologies is 
necessary when searching for pathogenic mutations in CYLD.