Pathology · single question
A patient has had three OKCs removed from the maxilla and mandible over the past few years. During today's visit you notice multiple skin lesions. The MOST likely diagnosis is:
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Correct answer: C. Nevoid Basal Cell Carcinoma (Gorlin) syndrome
Nevoid Basal Cell Carcinoma Syndrome (Gorlin-Goltz syndrome) is characterized by: multiple keratocystic odontogenic tumors (OKCs), multiple basal cell carcinomas of the skin, calcification of the falx cerebri, bifid ribs, and skeletal anomalies. It is autosomal dominant (PTCH1 gene on chromosome 9). The combination of multiple OKCs + skin basal cell carcinomas is pathognomonic for Gorlin syndrome.
- A. ❌ Cherubism presents with bilateral painless jaw enlargement in children due to fibrous replacement of bone — not OKCs or skin carcinomas.
- B. ❌ Gardner syndrome features multiple odontomas, osteomas, colorectal polyposis, and epidermoid cysts — not multiple OKCs with basal cell carcinomas.
- C. ✅ CORRECT – Gorlin syndrome: multiple OKCs + multiple basal cell carcinomas + calcified falx cerebri. PTCH1 gene mutation.
- D. ❌ Papillon-Lefèvre syndrome involves palmoplantar keratosis and early-onset aggressive periodontitis — not multiple OKCs.