Peutz-Jeghers Syndrome

A genetic disorder leading to congenital hamartomas of the gastrointestinal tract associated with perioral melanin spots.

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Familial Hamartomatous Polyposis Syndrome; Jegher Syndrome; Hutchinson-Weber-Peutz Syndrome; Lentigio-Polypose-Digestive Syndrome.

1:100,000 in the United States.

Autosomal dominant with high degree of penetrance. Mutation in the serine threonine kinase (SK11) gene on chromosome 19p13.3.

Hamartomatous muscularis mucosae polyps are present in the esophagus, stomach, small bowel, and colon. They are usually multiple but not premalignant. There is, however, an increased risk for adenomas and adenocarcinomas of the gastrointestinal (GI) tract. Polyps may also be present in the nasopharynx, bronchial mucosa, bladder, and ureter.

Polyps may occur in any part of the GI tract, but jejunal polyps are a consistent feature. Melanin spots (also called lentigines) on the lips, buccal mucosa, and digits, and around the anus: they are dark brown to black and round to oval. They are present in infancy and childhood, but may fade with age.

Intussusception, colicky abdominal pain, and bleeding are the usual symptoms. Approximately 50% of patients develop an intestinal or extraintestinal cancer: bronchogenic carcinoma, benign or malignant thyroid disease; breast, pancreatic, or reproductive tract cancer. Affected females are prone to develop benign ovarian tumor; testicular tumors are described in boys 4 to 6 years old with gynecomastia.

Check hemoglobin level because anemia caused by chronic intestinal bleeding is frequent. Check renal function if there is a history of hematuria.

The presence of nasal polyps should be excluded before inserting nasal tubes or catheters.

Familial Polyposis: A gastrointestinal system disorder characterized by adenomatous polyps leading to diarrhea and bleeding. Other clinical features include abdominal pain, cramps, and weight loss. Left untreated, intestinal malignancy may develop between the ages of 30 and 40 years.

Gardner Syndrome (Intestinal Polyposis, Type III): Known to affect the colon. It is also associated with supernumerary dentition, dysplasia of the skull and jaw, multiple fibrous tumors, and epithelial cysts. Other clinical features include bleeding, diarrhea or constipation, abdominal pain, and weight loss.

Cronkhite-Canada Disease (Allergic Granulomatous Angiitis): An extremely rare gastrointestinal disorder characterized by polyps, alopecia, skin hyperpigmentation, and the loss of nails from the fingers and toes. Other clinical features include abdominal pain, cramping, and diarrhea. Very few cases have been reported and all have been sporadic in apparition. There is no evidence that it may be hereditary.

Turcot Syndrome: Characterized by familial polyposis and tumors of the central nervous system (i.e., medulloblastoma, glioblastoma, or ependymoma). Other clinical features include diarrhea, intestinal bleeding, abdominal discomfort, ataxia, and speech problems. Neurological symptoms vary greatly and depend on the type and location of the brain tumor.