Pediatric Pigmented Polyposis Syndrome
Introduction
Introduction to Pediatric Pigmented Polyposis Syndrome Pigmented polyposis syndrome is a disease of the hamartomatous polyposis syndrome, which contains a group of diseases characterized by the fact that certain segments of the intestine are involved by an irregular mixture of tissues. It is characterized by non-neoplastic but tumor-like proliferation. The pigmented polyposis syndrome is also called periorificial lengue dystrophy. It is often called pigmentation-gasfrointestinalpolyposissyndrome and Peutz-Jegherssydrome (Pegmentation-gasfrointestinalpolyposissyndrome). PJS). This disease is accompanied by mucosa, skin hyperpigmentation of multiple gastrointestinal polyposis, repeated abdominal pain, diarrhea, anemia and intestinal obstruction, intussusception, etc., as the main clinical manifestations, often accompanied by malignant lesions leading to death The understanding of children with pigmented polyposis should be improved for early diagnosis, appropriate treatment, and follow-up. basic knowledge Sickness ratio: 0.0001% Susceptible people: children Mode of infection: non-infectious Complications: anemia, intussusception, intestinal obstruction
Cause
Causes of pediatric pigmentation polyposis
(1) Causes of the disease
The cause is still unclear, it is autosomal dominant, and often has familial disease.
(two) pathogenesis
The disease may be inherited by a single dominant multi-effect gene, and the penetrance rate is very high. There are many rickets in the same family (50% of the children in the patient), melanin shows an increase in melanin in the epidermal basal cells, and phage in the superficial dermis. Cells, to explore its tumor susceptibility mechanism, the loss of heterozygosity of LKB1 gene in patients' tumors.
Prevention
Pediatric pigmentation polyp syndrome prevention
The cause of the disease is unknown, and attention should be paid to the consultation of hereditary diseases.
Complication
Pediatric pigmentation polyposis complications Complications anemia intussusception
Can cause anemia, intussusception, intestinal obstruction, or malignant transformation of polyps can lead to death.
Symptom
Pediatric pigmentation polyposis symptoms Common symptoms Alopecia gastrointestinal symptoms Polyps Hemoglobin spots Oral mucosa pigmentation Abdominal pain Diarrhea Intestines Intussusception
Both sexes can be affected, at birth or in childhood, often starting before the age of 10, most patients have significant weight loss, followed by gastrointestinal symptoms, almost always change of nails, hair loss, pigmentation Calm and so on.
1. Pigmentation: more common in the lips and its surroundings, cheeks, face, finger skin, occasionally in the intestinal mucosa, but also pigmentation is limited to the trunk and limbs, the pigment can be black, brown, gray, blue and other colors, Very few patients have only intestinal polyps without pigmentation, no obvious incentives, in the mouth, lips (especially the lower lip), oral mucosa has a size of 0.2 ~ 7mm, round or oval, brown or black spots, and gradually Increased, the oral mucosa is larger, the boundary is clear, no symptoms, pigmentation spots can also occur in the fingers, palms and toes, less in the nostrils, around the eyes, hard palate and tongue, the number and size of pigment spots, Distribution has nothing to do with gastrointestinal lesions.
2. Gastrointestinal manifestations: Intestinal polyps appear mainly in the 10 to 30 years old, can occur in any part of the gastrointestinal tract, but more common in the small intestine, with intermittent seizures, repeated abdominal pain, bowel, vomiting, hematemesis, blood in the stool , diarrhea, large amount of defecation, and can contain fat or macroscopic blood, and intussusception, intestinal obstruction and protein-losing enteropathy, such as polyps can cause death.
3. Carcinogenesis of intestinal polyps: The nature of polyps is hamartoma. In recent years, it has been found that patients with intestinal polyps have a cancer rate of 2%. The age of these cancers is often <35 years old, more than 10 years earlier than the age of common colorectal cancer. The hamartoma often coexists with adenoma or adenoma in the hamartoma, so it is not certain whether the cancer is from the hamartoma itself or the adenoma. The incidence of extraintestinal malignancy can be as high as 10% to 30%.
Examine
Examination of pediatric pigmented polyp syndrome
Peripheral blood red blood cell count and hemoglobin amount decreased during anemia, hypoalbuminemia, water absorption, electrolyte imbalance, fecal occult blood positive, suggesting gastrointestinal bleeding.
X-ray gastrointestinal examination and endoscopy were confirmed when necessary. X-ray gastrointestinal examination and endoscopy confirmed intestinal polyps.
Diagnosis
Diagnosis and differential diagnosis of pigmentation polyposis in children
According to the family history of children, the clinical manifestations of children with pigmented polyposis syndrome, according to the lip, mouth role of plain spots, often accompanied by recurrent abdominal symptoms, with anemia, abdominal pain, blood in the stool, intestinal obstruction, etc. as the main performance, plus the intestine Mirror examination, X-ray examination, pathological examination, surgical diagnosis and other results can be confirmed.
Repeated glaucoma diarrhea should be differentiated from enteritis and intestinal parasitic diseases.
