We present a case of Brooke-Spiegler syndrome with a germline deep intronic 
mutation in the CYLD gene leading to intronic exonization. Additionally, diverse 
somatic mutations were identified, namely loss of heterozygosity, a recurrent 
nonsense mutation, and a sequence mutation causing exon skipping. These somatic 
aberrations were identified in 4 different cylindromas that had been removed 
from the patient. Additionally, we microscopically studied a spiradenocylindroma 
that showed unusual histology, including foci of follicular differentiation. A 
deep intronic mutation resulting in exonization and a somatic sequence mutations 
causing exon skipping are hitherto unreported genetic mechanisms involving the 
CYLD gene in patients with Brooke-Spiegler syndrome.