Paper Details


Paper Code :  19917979


Paper Title   :  Cutaneous epidermal cysts as a presentation of gorlin syndrome

Journal Title   :  Archives of dermatology



Reference

Arch Dermatol. 2009 Nov;145(11):1341-3.

Morice-Picard F, Sévenet N, Bonnet F, Jouary T, Lacombe D, Taieb A.
 
Abstract
Nevoid basal cell carcinoma (NBCC), also known as Gorlin syndrome, is an autosomal dominant condition predisposing to the development of multiple tumors including basal cell carcinomas (BCCs).1 Medulloblastoma is the most important early complication. Other features include palmoplantar pits, odontogenic cysts, and skeletal malformations. Mutations in PTCH1 have been found to be responsible for NBCC.1 We report herein unusual presentations of NBCC consisting of multiple epidermal cysts in a boy and his Korean mother associated with a novel nonsense mutation.



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