Melanotic spots-gastrointestinal multiple polyp syndrome (Peutz-Jegher Syndrome) is a hereditary disease characterized by the occurrence of melanotic spots on the lips and surrounding areas, accompanied by multiple polyps in the digestive tract.

bubble_chart Clinical Manifestations

The oral mucosa and lips exhibit distinct melanin spots, which may be single or multiple, appearing brown or black with diameters ranging from 1 to 5 mm. These spots are irregularly round or oval in shape, darkest in color around puberty, and lighter in childhood and old age. Some patients also show varying degrees of pigmented spots on the face and hands. Polyps commonly occur in the small intestine and usually present no symptoms, though intussusception and intestinal bleeding may occasionally occur. Significant gastrointestinal bleeding often suggests gastric or duodenal intestinal tumors. Polyps can directly or indirectly induce intussusception, leading to abdominal colicky pain and a series of intestinal obstruction symptoms. Compared to intussusception caused by pediatric conditions or tumors in the elderly, the symptoms induced by this condition are milder, with abdominal pain typically resolving on its own within 10 to 15 minutes.

bubble_chart Auxiliary Examination

1. Barium meal X-ray examination reveals polyps of varying sizes, mostly less than 2 cm, with most being pedunculated. The distribution is dense and extensive, and in severe cases, the entire colon may be involved, even extending to the stomach and small intestine. When the intestinal lumen is filled, the margins appear lace-like, and upon compression, numerous densely packed small filling defects can be observed.
2. Double-contrast X-ray imaging shows a honeycomb-like pattern.
3. Fiberoptic endoscopy can detect polyps in the stomach, duodenum, rectum, and colon, allowing for pathological biopsy.

bubble_chart Treatment Measures

Since it is a congenital hereditary disease, there is no specific radical treatment. For grade I intestinal bleeding, conservative treatment is adopted. If severe bleeding is ineffective with medical treatment, exploratory laparotomy can be performed to identify the bleeding site and provide appropriate surgical intervention. Generally, ileostomy is not recommended, but surgery or endoscopic polypectomy may be considered in cases of obstruction, a large number of polyps, or large polyps.