Overview.
Ermoid polyposis is a rare polypoid lesion that includes Peutz-Jeghers syndrome and juvenile colonic polyposis.Peutz-Jeghers syndrome can occur in adults or children, is located in the rectum and sigmoid colon, is usually tipped, and may be single or multiple. Juvenile polyposis begins at an early age.
Etiology
1. Peutz-Jeghers syndrome
Peutz-Jeghers syndrome is an autosomal dominant disorder in which the causative gene is on the short arm of chromosome 19.
2. Juvenile polyposis of the colon
This disease occurs in early childhood, and most of the affected children are boys under 10 years old. It is associated with a deletion mutation in the PTEN gene.
Symptoms
1. Peutz-Jeghers syndrome
The main clinical manifestations are mucosal and skin melanosis and multiple polyps in the gastrointestinal tract.
(1) Hyperpigmentation ① the site is mainly in the lips and buccal mucosa; ② it is usually dark brown to black; ③ the size is 2-5 mm, the shape is round, oval or irregular; ④ it does not rise above the surface of the skin, and it is distributed in a scattered manner.
(2) Gastrointestinal polyps Mostly develop during adolescence and can be asymptomatic or present with intermittent cramping abdominal pain. Bleeding polyps are associated with bloody or black stools, and occasionally with bloody stools. Patients may suffer from iron deficiency anemia due to chronic blood loss, or intussusception due to polyp pulling.
2. Juvenile colonic polyposis
Symptoms begin at an early age and include blood in the stool, mucus in the stool, diarrhea and abdominal pain, and secondary anemia.
Examination
The pathologic changes of Peutz-Jeghers syndrome are mucosal and skin pigmentation and multiple polyps in the gastrointestinal tract; histologic examination of melanotic spots shows increased pigmentation of the basal layer of the epidermis, the echinocyte layer, and an increased number of melanocytes in the basal layer. The polyps in juvenile colonic polyposis mainly occur in the distal colon, with dozens to hundreds of polyps with smooth, pale red surfaces; the epithelial layer of the polyps is usually normal when seen microscopically, and histologic examination reveals that the glandular ducts are made up of columnar epithelial cells with darkly stained nuclei, which presents the characteristics of adenomatous polyps.
Diagnosis
The diagnosis of Peutz-Jeghers syndrome is generally not difficult with its specialized clinical presentation. Patients with skin pigmentation, intermittent cramping abdominal pain, blood in the stool, and anemia should be considered for the possibility of this disease. Barium meal imaging of the gastrointestinal tract and fiberoptic endoscopy of the gastrointestinal tract are required to establish the diagnosis. The diagnosis of juvenile colonic polyposis is primarily based on rectal fingerprinting and colonoscopy.
Treatment
The main focus is on the treatment of gastrointestinal polyps and their complications. Tipped polyps with a diameter of 1 cm or more should be treated. Patients with polyps over 2 cm in diameter and symptoms of abdominal pain or anemia undergo elective surgery. Complications of acute intussusception and intestinal obstruction should be treated with emergency surgery. If the polyp position is high, the child can not cooperate with the temporary treatment.