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Gorlin syndrome in a patient with skin type VI

  • Author(s): Poladian, Katlin
  • Difato, Thomas C
  • Anderson, Kathryn L
  • Taylor, Sarah L
  • et al.
Creative Commons 'BY-NC-ND' version 4.0 license
Abstract

Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare autosomal dominant disorder that is characterized by multiple basal cell carcinomas developing at a young age, keratocystic odontogenic tumors of the jaw, palmar or plantar pits, calcification of the falx cerebri, and skeletal abnormalities. Nevoid basal cell carcinoma syndrome is caused by mutations in the PTCH1 or SUFU genes. Our patient with Fitzpatrick skin type VI was diagnosed with Gorlin syndrome based on the presentation of multiple major diagnostic characteristics. Although he is 33 years old, he has not developed any multiple basal cell carcinomas to date.

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