Nevoid basal cell carcinoma syndrome
QUESTION 90
An 8-year-old Hispanic girl was referred to dermatology after she presented to a dentist with a complaint of tooth and jaw pain. On panoramic X-ray, there were three keratocystic odontogenic tumours, which were subsequently removed surgically, with histology confirming the diagnosis. She currently lives with her father, who reports that her mother had similar issues requiring repeated surgeries. Physical examination was notable for greater than three palmar pits on her bilateral hands and feet (90a, b).
i. What is the gene mutation seen in this disorder?
ii. What are the characteristic findings seen on chest X-ray and head imaging?
iii. What neoplasms are patients with this genetic syndrome at risk for?
Related posts:
Stay updated, free articles. Join our Telegram channel
Full access? Get Clinical Tree
