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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.
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1:100,000 in the United States.
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Autosomal dominant with high degree of
penetrance. Mutation in the serine threonine kinase (SK11) gene on
chromosome 19p13.3.
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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.
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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.
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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.
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Check hemoglobin level because
anemia caused by chronic intestinal bleeding is frequent. Check renal
function if there is a history of hematuria.
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The presence of nasal polyps should be
excluded before inserting nasal tubes or catheters.
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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.
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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.
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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.
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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 ...