A novel germline mutation in the CYLD gene in a Slovak patient with Brooke-Spiegler syndrome
Kacerovská, D.; Szép, Z.án.; Kolláriková, L.; Vaneček, T.áš; Michal, M.; Daniš, D.ša.; Kazakov, D.
Ceskoslovenska Patologie 49(2): 89-92
2013
ISSN/ISBN: 1210-7875 PMID: 23641715 Document Number: 667550
The authors report a 64-year-old female with Brooke-Spiegler syndrome who presented with multiple cutaneous nodules and tumors mostly involving the scalp. Histopathological examination of one of the lesions located in a periauricular area revealed a typical cylindroma. In some neoplastic nodules ductal differentiation and occasional bilayered glands composed of the dark abluminal basal/myoepithelial cells and luminal mucinous cells might be recognized. Apocrine secretion was focally noted. Molecular biologic study of the CYLD gene performed from the peripheral blood identified a novel splice site c.2041+1 G>T mutation. This new germline mutation in the CYLD gene of a Slovak patient with Brooke-Spiegler syndrome extends the catalogue of known CYLD germline mutations in this condition.