Pathology · single question

Which jaw lesion is a hallmark of Gorlin syndrome (Basal Cell Nevus Syndrome)?

  1. Odontogenic keratocysts (OKCs)
  2. Squamous cell carcinoma
  3. Ameloblastoma
  4. Odontoma
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Correct answer: A. Odontogenic keratocysts (OKCs)

Gorlin syndrome (Basal Cell Nevus Syndrome) is an autosomal dominant condition caused by mutations in the PTCH1 gene (Hedgehog signaling pathway). Its key features include: (1) multiple odontogenic keratocysts (OKCs) in the jaws, often bilateral; (2) multiple basal cell carcinomas of the skin; (3) skeletal anomalies (bifid ribs, kyphoscoliosis); (4) calcification of the falx cerebri; and (5) increased risk of medulloblastoma. OKCs in Gorlin syndrome are more aggressive and have higher recurrence rates than sporadic OKCs. They are now reclassified as Keratocystic Odontogenic Tumors (KCOT) in some nomenclatures.

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