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      A novel germline mutation in the CYLD gene in a Slovak patient with Brooke-Spiegler syndrome.

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          Abstract

          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.

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          Author and article information

          Journal
          Cesk Patol
          Ceskoslovenska patologie
          1210-7875
          1210-7875
          Apr 2013
          : 49
          : 2
          Affiliations
          [1 ] Department of Pathology, Charles University in Progue, Medical Faculty in Pilsen, Czech Republic. kacerovska@medima.cz
          Article
          40440
          23641715

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