Gorlin syndrome in a patient with skin type VI

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 ske...

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Bibliographic Details
Published in:Dermatology online journal 2019, Vol.25 (11)
Main Authors: Poladian, Katlin, Difato, Thomas C, Anderson, Kathryn L, Taylor, Sarah L
Format: Article
Language:English
Subjects:
Adult
African Americans
Basal Cell Nevus Syndrome - diagnosis
Basal Cell Nevus Syndrome - diagnostic imaging
Dermatology
Head - diagnostic imaging
Humans
Male
Mandible - diagnostic imaging
Mandible - pathology
Radiography, Thoracic
Ribs - abnormalities
Ribs - diagnostic imaging
Skin cancer
Skin Neoplasms - diagnosis
Skin Pigmentation
Tomography, X-Ray Computed
Tumors
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Summary: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.
ISSN:1087-2108
1087-2108
DOI:10.5070/D32511046143