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Skin Signs of Gastrointestinal Disease

»	List some of the hallmark skin signs seen with diseases of the digestive tract.
»	What is jaundice (icterus) and when is it apparent in the skin?
»	What can a jaundice color spectrum tell me about the types of liver disease in a patient?
»	List the top ten skin findings suggestive of hepatic and biliary tract disease.
»	What is the most common skin symptom associated with liver disease?
»	What diseases associated with intestinal bleeding may also leave clues in the skin?
»	What is pyoderma gangrenosum?
»	A patient presents with anemia, blood in the stool, and red macules on his lips/tongue. What diagnosis should I first consider?
»	What other diagnoses should I consider when seeing a patient with macules on the lips?
»	What is the best treatment for patients with Peutz-Jeghers syndrome?
»	What is pseudoxanthoma elasticum (PXE)? How does this cause GI bleeding?
»	What is Gardner’s syndrome?
»	How can cancer of the gastrointestinal tract present in the skin?
»	What is “malignant” acanthosis nigricans (AN)?
»	What is superficial migratory thrombophlebitis (SMT)?
»	How is inflammation of the fat (panniculitis) associated with pancreatic disease?
»	What chronic liver disease associated with photosensitivity causes blistering and scarring of the skin?
»	What chronic skin disease is associated with a gluten-sensitive enteropathy?
»	How is dermatitis herpetiformis treated?

What other diagnoses should I consider when seeing a patient with macules on the lips?

A number of conditions have pigmented macules on the lips. The most important one concerning the GI tract is Peutz-Jeghers syndrome (PJS). It is one of the “classic” polyposis syndromes with intestinal polyps, an increased risk of cancer, and characteristic skin findings in 95% of cases. PJS is an autosomal dominant disorder that appears at birth or in infancy with small round to oval macules that vary from brown to blue-brown in color. They most often occur on the lips and buccal mucosa, but the nose, palms, soles, fingers, hard palate, and gingiva may also be affected. Be sure to examine the mouth. It is important to remember that the lip macules are not present at birth.

Individuals with PJS also have multiple polyps in the small intestine, most commonly in the jejunum and ileum. Polyps present around 11 to 13 years of age. When only a few polyps are present, there may be no symptoms. However, when present in large numbers, the polyps may cause intussusception with resultant abdominal pain and bleeding (most common) or obstruction. The polyps are hamartomatous polyps, which means that they are composed of benign elements normally present in the gut. There is a 2% to 3% risk, however, of intestinal malignancy in patients with PJS. It is thought that among the masses of benign polyps is the occasional adenomatous polyp that is a precursor lesion of intestinal cancer. There is a 37% chance of any type of cancer by age 65 in PJS. In addition, it has been recently discovered that patients with this syndrome have a higher risk of developing cancer of the ovary, uterus, breast, endometrium, testicles, GI, lungs, and pancreas. Recent studies have indicated that PJS arises from mutations in a tumor supressor gene (19p13.5, gene STK11/LKB1), which normally regulates cell cycle progression. Forty percent of gene mutations are spontaneous.

Thiers BH, Sahn RE, Callen JP: Cutaneous manifestations of internal malignancy, CA Cancer J Clin 59(2):73–98, 2009.