A child presents with "freckles" all over his body, including the buccal mucosa, lips, palms, soles, and skin not exposed to sun. Which of the following additional findings would most likely be present?
The widespread "freckles" (spots of melanin pigmentation) described in this case are associated with hamaomatous colonic polyps in Peutz-Jeghers syndrome. The polyps in Peutz-Jeghers syndrome do not progress to colon cancer. Interestingly, Peutz-Jeghers syndrome is associated with an increased potential to develop carcinomas of the pancreas, breast, ovary, uterus, and lung. All of the other features listed are components of Gardner's syndrome, a variant of familial adenomatous polyposis syndrome, which carries a greatly increased risk of colon cancer. Ref: Wyatt C., Butterwoh IV J.F., Moos P.J., Mackey D.C., Brown T.G. (2008). Chapter 20. Dermatopathology. In C. Wyatt, J.F. Butterwoh IV, P.J. Moos, D.C. Mackey, T.G. Brown (Eds), Pathology: The Big Picture.
Colonic polyps
Desmoid tumors
Epidermoid cysts
Osteomas of the jaw