Skin and GI Lesions: What's the Connection?

November 1, 2013

Cutaneous hyperpigmentation and papules coupled with active GI bleeding and a submucosal mass. What’s the diagnosis-and the chief clinical concern?

  



A 55-year-old man presents with presyncope. His stools have been dark red and he has experienced mid-abdominal pain for a week. His abdomen is tender to palpation in the periumbilical region but is otherwise soft and without masses. His skin has circular areas of hyperpigmentation and multiple fleshy papules. An active area of bleeding in either the duodenum or jejunum was seen on capsule endoscopy, and a 2-cm ulcerated submucosal mass 50 cm distal to the pylorus was subsequently found on single-balloon enteroscopy.

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Answer:D. Neurofibromatosis type 1, which is associated with a greatly increased risk of GI stromal tumor

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