Peutz-Jeghers syndrome

From Ganfyd

Peutz-Jeghers syndrome is an autosomal dominant disorder characterised by the concurrence of hamartomatous intestinal polyps with mucocutaneous melanotic macules usually on the lips, buccal mucosa, and digits.

The polyps are usually benign but there is a 15x increase in the risk of bowel and other cancer compared to the general population. Females are more likely to develop granulosa cell ovarian tumours. Cancers of the pancreas, stomach, and even multiple myeloma are associated.

It is caused by mutations of the STK11 gene at 19p13.3.