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Correspondence |

Cutaneous Epidermal Cysts as a Presentation of Gorlin Syndrome

Fanny Morice-Picard, MD; Nicolas Sévenet, MD; Francoise Bonnet, MD; Thomas Jouary, MD; Didier Lacombe, MD; Alain Taieb, MD
Arch Dermatol. 2009;145(11):1341-1343. doi:10.1001/archdermatol.2009.274.
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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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Figure 1

Palmar pits on the hands of patients 1 and 2, indicated by arrows.

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Figure 2

Patient 1 shortly after birth. Cutaneous epidermal cysts (arrows) on the right hand (A), right forearm (B), and scalp (C).

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