Pigmented polyp syndrome

Pigmented polypus syndrome? Polyposis? Syndrome), also known as Puget's disease (Peutz-Jeghers? Syndrome) is an autosomal dominant hereditary disease, which is characterized by melanotic spots on oral mucosa and perioral skin and multiple polyps in gastrointestinal tract.

clinical picture

1, chloasma? This is one of the main symptoms of this disease. Melanin spots are most common around lips and cheeks, and pigment spots on lips are easy to observe. In addition, it can also be seen in tongue, palate, nasolabial groove, nasal vestibule, eyelid, conjunctiva, fingers and toes, and a few can be seen in perineum, abdominal wall, small intestine or rectal mucosa. It can appear a few months after birth, and the damage is black, brown, brown or blue-black, flat and not bulging, scattered or clustered, with different sizes, usually L ~ 5 mm, round and oval, which can be integrated with each other and sometimes symmetrical. Usually, the pigmentation of the red part of the lips around the mouth appears before the skin. With the increase of age, pigment spots can increase, and the color will deepen after several days. In adulthood, sometimes dark spots become shallow or disappear, while oral mucosal pigmentation is still clearly discernible. The severity of intestinal polyps has nothing to do with the size, number and depth of pigment spots on mucosa and skin.

2. Gastrointestinal polyps? Multiple polyps in gastrointestinal tract are an important feature of this disease. Gastrointestinal polyps are more common in small intestine and colon, and can also occur in stomach and duodenum. There are many polyps, ranging in size from the tip of a needle to goose eggs, and generally to soybeans. Most of them are pedicled, round or oval, and the surface of polyps is lobulated. The surface of a larger polyp may be brain-patterned, and may be dispersed or aggregated. The main symptoms and complications of this syndrome are caused by polyps. Patients often have chronic abdominal pain, vomiting, diarrhea, anemia, black stool and other symptoms. In severe cases, complications such as intestinal obstruction and intussusception may occur. Polyps of this disease are often malignant.

Pathological mucosal skin damage is characterized by the increase of melanocytes in the basal cell layer, or accompanied by melanocyte proliferation. Intestinal polyps are hamartomas. Microscopically, the muscularis mucosa showed dendritic hyperplasia and nonspecific gonadal duct hyperplasia.

The diagnosis should be based on the pigmentation spots in oral mucosa and around the mouth, and the disease should be considered when asking about the history of symptoms such as abdominal pain and bloody stool and family history. Gastrointestinal barium meal X-ray radiography, gastrointestinal fiberscope and abdominal ultrasound are all helpful for diagnosis, which can fully understand the distribution, quantity and size of gastrointestinal polyps.

For the treatment of pigmentation spots in and around the mouth, there is generally no need for treatment, and cryotherapy is also feasible, which can reduce the mental burden of patients. Polyps can be treated by surgery.