Pathology · single question
A patient has had 3 OKCs excised from the maxilla and both sides of the mandible, and now has skin lesions. What is the MOST likely diagnosis?
Show answer and explanation
Correct answer: A. Gorlin-Goltz Syndrome (Nevoid Basal Cell Carcinoma Syndrome — NBCCS)
✓ A) Gorlin-Goltz Syndrome (NBCCS) is correct.
NBCCS (PTCH1 gene, autosomal dominant) features: (1) Multiple OKCs (keratocystic odontogenic tumors) — most consistent dental feature; (2) Multiple Basal Cell Carcinomas of skin; (3) Calcification of the falx cerebri; (4) Palmar/plantar keratosis (pits); (5) Bifid ribs and skeletal anomalies. Gardner's Syndrome = odontomas + osteomas + intestinal polyps. Cherubism = bilateral jaw giant cell lesions. The combination of multiple OKCs + BCC on skin = pathognomonic for NBCCS.
NBCCS (PTCH1 gene, autosomal dominant) features: (1) Multiple OKCs (keratocystic odontogenic tumors) — most consistent dental feature; (2) Multiple Basal Cell Carcinomas of skin; (3) Calcification of the falx cerebri; (4) Palmar/plantar keratosis (pits); (5) Bifid ribs and skeletal anomalies. Gardner's Syndrome = odontomas + osteomas + intestinal polyps. Cherubism = bilateral jaw giant cell lesions. The combination of multiple OKCs + BCC on skin = pathognomonic for NBCCS.