Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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August 3, 2015
Gorlin Syndrome
- Background: Nevoid basal cell carcinoma syndrome, or Gorlin syndrome, is a rare hereditary condition with autosomal-dominant inheritance. The syndrome is linked to a gene known as PTCH ("patched"), a tumor suppressor gene on chromosome 9.
- Relevant Clinical Information: Patients present at a young age (late teens to early twenties) with multiple basal cell skin carcinomas.
- Key Diagnostic Features:
- Odontogenic keratocysts of the jaw and early dural calcifications
- Other associated abnormalities: Medulloblastoma, skeletal/craniofacial abnormalities such as bifid ribs, hyperpneumatized paranasal sinuses, macrocephaly, and pits in the palmar and plantar skin. Calcified ovarian fibromas have also been associated
- DDx:
- Multiple keratocystic odontogenic tumors
- Multiple dentigerous cysts
- Langerhans cell histiocystosis
- Treatment Options:
- Multidisciplinary approach, including a team of dermatology, neurology, radiology, and odontology
- For jaw lesions treatment is primarily surgical. For skin lesions multiple treatment options are available, including surgery, topical chemotherapy, or laser ablation.
- Patients should have regular radiographic follow-up to evaluate for recurrence and new jaw lesions.
- Radiotherapy should be avoided (or used judiciously in those patients with medulloblastoma), as patients with Gorlin syndrome are prone to developing radio-induced malignancies, especially basal cell carcinomas, in the radiation field.
- Life expectancy is not significantly altered.
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