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.
Morice-Picard F, Sévenet N, Bonnet F, Jouary T, Lacombe D, Taieb A. Cutaneous Epidermal Cysts as a Presentation of Gorlin Syndrome. Arch Dermatol. 2009;145(11):1341-1343. doi:10.1001/archdermatol.2009.274