What Is Peutz-Jeghers Syndrome?

There are three major characteristics of the eigen: mucosa, pigmented spots in specific parts of the skin; multiple polyps of the gastrointestinal tract; hereditary. This disease was thought to be rare in the past, and many cases have been reported clinically in recent years. The disease can occur at any age, it is more common in children and adolescents, and the incidence is about the same for men and women.

Peutz-Jeghers syndrome

Peutz-Jeghers's Syndrome (Peutz-Jeghers's Syndrome, hereinafter referred to as PJS) is also known as familial mucosal skin pigmentation, gastrointestinal polyposis, and black polyposis.

Peutz-Jeghers syndrome characteristics

Hutchinson first reported melanin spots on the upper lips of a pair of twin girls in 1896, and his colleague Weber reported in 1919 that one of the two sisters died of intussusception at the age of 20. In 1921, Peutz reported that 7 of the three generations had suffered from intestinal polyposis, with melanin spots on the lips and buccal mucosa. The familial heredity of the disease is described. In 1949, Jeghers, together with Mckusick and Katz, collected 22 cases of the world literature and reported 10 cases of himself. He emphasized the family inheritance of the disease and the characteristics of skin and mucosal pigmentation, which caused widespread attention. In 1954 Bruwer et al. First used the name Peutz-Jeghers syndrome. Vilchis et al reported that an average of 10 cases of this syndrome worldwide each year. However, in 1977, Mcallister and others collected 320 cases of European and American literature; in 1987, Goh Akihiko collected 355 cases of Japanese literature; Meng Ronggui and others collected 44 domestic documents of 1985-1989, a total of 173 cases, indicating that PJS is not uncommon in China.

Causes of Peutz-Jeghers syndrome

PJS belongs to a family of hereditary diseases, and its inheritance mode is autosomal dominant inheritance, which is transmitted by a single pleiotropic gene. The patient's chromosomes are divided into two types, homozygosity and heterozygosity. Due to genetic mutations, both can develop disease. The incidence of homozygotes is very low, and is often prone to stillbirth or death. Heterozygote is the most common clinically seen patient. One of the parents is normal, the other is heterozygous, and about half of their children may develop the disease. If the healthy children of the patients are not close relatives, no disease-causing genes will be passed on to the offspring. Guo Min and others reported that among 8 patients in 3 families, one was inherited by father and daughter; the other was inherited by mother and child; the other was born with 4 sons, and the 3rd and 4th sons suffered from the disease. Spots, without multiple polyps of the gastrointestinal tract, can be called incomplete dominant inheritance. About 50% of patients with PJS have no obvious family history, which may be caused by new gene mutations, but their offspring may still develop disease. At present, it is not yet possible to predict who may develop the disease in children of patients with this disease through genetic markers, which requires further study.

Peutz-Jeghers syndrome pathology

The main pathological changes in patients with PJS are mucosa, skin pigmentation, and gastrointestinal polyps. Mucosa and skin pigmentation are formed by the increase in the number of melanocytes in the dermal base and melanin deposits. The intrinsic polyps are hamartoma, non-neoplastic polyps. The surface of the polyp is a glandular duct composed of normal intestinal or gastric epithelial cells. According to the pathological examination of 6 PJS patients, Ant Guozheng believes that the most significant feature of the polyp is the smooth muscle bundles in the stroma, which are distributed in a dendritic shape and interspersed between the glands. Within the glandular epithelium, goblet cells are often increased, and secretion is increased. Glandular growth may be proliferative glands or clusters, or they may grow in the form of papillae. Among the 6 cases in this group, 4 cases were accompanied by adenoma-like structures. Most of the adenoma-like structures coexisted with polyps, and some were located on the top or body of the polyps. Individual adenomas existed alone.

The literature on intrinsic carcinogenesis has been extensively discussed. Most scholars believe that hamartomas have less chance of becoming cancerous. Even if there is malignant change, it is necessary to strictly distinguish whether it is a malignant change of a polyp or a primary intestinal cancer associated with a polyp. Some people find that canceration occurs mostly in cases where hamartoma and adenoma coexist, so it is believed that cancerization is likely to evolve from adenoma, not necessarily from intrinsic polyps. Some are densely packed with polyps around the edge of cancerous ulcers, but it is difficult to say whether they are associated or cancerous. It is generally believed that even if the polyps of the levy are cancerous, their malignancy is low, the lesions are limited, and metastases are rare. Regarding cancer-prone sites, scholars' reports are inconsistent. Konishi and other comprehensive Japanese and European and American literatures suggest that the sites of malignant transformation of the polyps are mainly in the large intestine, duodenum, jejunum, and stomach. Others believe that in the stomach and small intestine. Dozois et al collected 321 cases, of which 11 had malignant changes, accounting for 3.4%; Utsunomiya et al reported 8.6%; Liu Ru reported 3.6%. Suda et al. Performed a histological examination of 409 patients with intrinsic gastrointestinal polyps, and found that malignant transformation was 0 in diameters below 1.0 cm; 1.6% in 1.0-3.0 cm; 15% in 3.0 cm and above. The larger the polyp, the higher its malignancy. Among the 6 PJS patients reported by Ant Guoyu, 2 cases were associated with bowel cancer. From the morphological observation, 2 cases were bulging highly differentiated adenocarcinomas, including 1 with lymph node metastasis and 1 with intestinal wall involvement. Floor.

Clinical manifestations of Peutz-Jeghers syndrome

The clinical manifestations of the symptoms are different, and the individual varies greatly. Those with mild disease may have no conscious symptoms, and those with severe disease may have gastrointestinal symptoms such as abdominal pain, diarrhea, mucus, blood in the stool, constipation, and vomiting. In addition to the above symptoms, the symptoms are still characterized by pigmentation and gastrointestinal polyps.

1. Pigmentation: Pigmentation: Pigmentation spots mainly occur on the face, around the lips, buccal mucosa, fingers and toes, as well as on the skin of the palms and feet; Color: Most patients have pigmentation spots on the upper and lower lips and buccal mucosa Black, and the rest are mostly brown or dark brown; Appearance time: It can appear at any age, and the spots mostly occur in infants and young children, and are obvious to adolescence. Some patients can gradually decline or disappear after 30 years of age; Relationship with polyps: The vast majority of cases are coexisting, and about 5% of patients have multiple polyps or pigmentation of the gastrointestinal tract. In the order of appearance of the two, clinically, there are pigmented spots before polyps occur, but the number and depth of pigmented spots have no correlation with the number of polyps; Features of pigmented spots: their appearance is round, oval, A variety of shapes, such as fusiform, are generally clear, with the lips and buccal mucosa being the most prominent, and the lower lip is particularly prominent. Pigment spots are often closely connected, not high from the skin and mucosal surfaces.

2. Gastrointestinal polyps: They are often multiple. Polyps can occur throughout the gastrointestinal tract. They are more common in the small intestine, and they also grow in the stomach, large intestine, and appendix. The size of these polyps is variable, the small ones are only needle-like bulges, the large ones can reach 10.0cm in diameter, most of them are 0.2-0.5cm, the surface is smooth, hard, and the length and thickness of the pedicles are not pedicled. Larger polyps can be cauliflower-like.

In addition, long-term diarrhea and blood in the stool caused by polyps in the gastrointestinal tract can lead to anemia; intestinal obstruction can occur when the polyps develop into large polyps; intestinal packages can also be caused by polyps or traction by polyps, sometimes with rectal degeneration Down. Most of the intussusception can be reset on its own. If it cannot be reset in time, the delay can cause intestinal necrosis.

Peutz-Jeghers syndrome test

1. Inspection: The lips, oral mucosa, palms, soles of the feet, fingers and toes, and anus should be checked for pigmented spots.

2. Digital rectal examination: check for polyps in the rectum within the reach of your fingers.

3 X-ray examination: Because the intrinsic polyps can be scattered throughout the digestive tract, suspicious patients with pigmented spots on the skin and mucous membranes must be double contrasted with gastrointestinal barium meal imaging and barium enema to understand whether polyps are present . However, it should be explained that if the polyps are not found, the existence of the eigens cannot be ruled out. The reasons are as follows: the appearance of polyps is later than the pigmentation spots; some smaller polyps or broad-based and low-level polyps are not easy to observe directly. Therefore, it must be confirmed by endoscopy.

4 Endoscopy: including gastroscopy, rectoscopy, sigmoidoscopy and fiber colonoscopy, biopsy should be taken if polyps and suspicious tissues are found.

5. Ultrasound examination: Abdominal ultrasound examination can be performed for those suspected of intussusception and intestinal obstruction.

6. Histological examination: Most of the intestinal polyps that occur naturally show a malformed arrangement of normal cells or a hamartoma structure under the microscope. Mucosal muscles have dendritic deformities with epithelial components and smooth muscle fibers in polyps. Although the epithelial cells are abnormally arranged, they are also normal differentiated goblet cells without proliferation.

Peutz-Jeghers syndrome diagnosis

If the pigment spots on the lips, oral mucosa and other parts are found, combined with X-ray and endoscopic examination, the presence of digestive tract polyps and histological confirmation of hamartoma can confirm the diagnosis. However, due to an increase in reports of atypical patients in recent years, the finding of adenomatous polyps or villous polyps in the rectum cannot rule out the features.

Most patients have a family history, but it must be emphasized that not all patients have a family history, so someone who has three major characteristics of pigmented spots, gastrointestinal polyps, and familial inheritance is called complete PJS; only Those with dark spots and family history or only dark spots and polyps without family history are called incomplete PJS. This feature must be distinguished from other gastrointestinal polyposis.

six. treatment

The intrinsic treatment is mainly for the treatment of gastrointestinal polyps and its complications. If the patient feels that the dark spots are impairing beauty and requires treatment, the dark spots can also be treated.

1. Treatment of gastrointestinal polyps: For those with small and asymptomatic polyps, conservative medical treatment is the main method, and regular follow-up is performed, and fiber colonoscopy is performed every 1 to 2 years, but patients should be informed that gastrointestinal polyps There may be blood, intussusception, and intestinal obstruction. Once the attack occurs, it should be diagnosed and treated in a timely manner; Those with pedicled polyps around 1.0 cm can be removed by electrocoagulation through an endoscope, and multiple polyps can be removed at one time; Patients with large polyps (more than 2.0cm) and symptoms should perform surgery as soon as possible. Simple polypectomy for intestinal incision can be performed to avoid intussusception and intestinal obstruction. Patients with intussusception and intestinal obstruction should undergo emergency surgery. The operation method should be determined according to the situation at the time; Colon and rectal polyps are large and densely clustered and cannot be removed one by one, a total colectomy can be performed, a part of the rectum is reserved, and an ileal-rectal anastomosis is performed to maintain good anal function. Rectal residual polyps can be removed by endoscopic electrocoagulation or cryoablation.

Hua Jide reported treatment of 17 cases, and thought that once the diagnosis was made, surgery should be performed to remove the cause according to the severity of the disease and the size and location of polyps. They believe that the intrinsic surgical indications are: those with concurrent intussusception; cancerous or obstructed; those with abdominal pain and anemia; those with polyps greater than 2.0 cm; located in the stomach, duodenum, colon, rectum Those who are prone to cancer. Meng Ronggui and others believe that the intrinsic treatment is mainly to remove polyps to prevent abdominal pain, diarrhea, bleeding and intussusception. They often use the following 3 methods to remove intestinal polyps.

(1) Selective laparotomy plus small intestine incision, fiber colonoscopy through small intestine incision, and PSD (electrotherapy ligation) to remove polyps. Intestinal preparation is the same as intestinal preparation before general colon surgery. The endoscope can be CF-IBW or (OES) CF --- P101, and the full scope can be immersed in 1: 1000 chlorhexidine solution for 30 minutes to disinfect. It is not a waterproof mirror, just soak the lens body, wipe the operation part and the light guide section with alcohol. The surgical method is as follows: the patient is supine after anesthesia. After entering the abdominal cavity, investigate and cut in the largest polyp of the small intestine (preferably in the middle of the small intestine). After the polyp is removed, the intestinal wall incision is not sutured. The 4th silk thread is purged and then pulled out of the abdominal wall incision. Cover the incision with a sterile treatment towel to prevent contamination. After inserting the endoscope from the small intestine incision, the endoscope physician and interposer tighten the purse suture appropriately and tie it. One operator fixed the intestinal canal at the incision. Insert the endoscope into the proximal end of the small intestine first, with gentle movements. As you enter the mirror, observe it carefully, suction the contents of the intestine, insert it all the way to the lower part of the duodenum, and then retract the endoscope. When the polyp pedicle is <1.0-1.5cm, it is immediately removed by endoscope using PSD or microwave. When the large intestine polyps are not removed by endoscope, use a No. 4 silk thread to mark a stitch in the intestinal wall, and remove the polyps after the endoscope is withdrawn. The endoscope is then turned to the distal end of the small bowel incision. Before insertion into the distal end of the microscope, clamp an intestinal forceps on the ileum 10.0 cm from the ileocal flap to prevent gas from entering the colon. The method of finding and processing polyps is the same as that of the proximal small bowel polyps.

(2) Laparotomy combined with fiber colonoscopy to remove ileum and colon polyps. The bowel and endoscope are prepared as before. In this case, 6 cases of polyps with a diameter of about 1.0 cm at the end of the ileum and 9 cases of colon polyps were removed. The surgical method is as follows: After the patient is successfully anesthetized, the lithotomy position is taken, and the endoscope is inserted from the anus. The advantage of this method is that the speed of entering the mirror is fast, does not pollute the surgical field, and the ileal polyps are removed thoroughly and safely. The disadvantage is that it is more difficult for the endoscope to enter the jejunum, so this method should not be used for jejunal polyps.

(3) Removal of large intestine polyps through fiber colonoscopy snare. This method does not need to be performed during the operation, which is a great improvement on the treatment of large intestinal polyps. However, it should be noted that the gas in the intestinal cavity should be pumped 3 to 4 times before the polyps are removed, and the fecal water is drained. Large pedicled polyps are resected. Note that each snare should not exceed 2.0 cm in order to prevent the snare from falling into the cut tissue. Patients without pedicled polyps> 2.0 cm advocate surgery. Outpatients were observed for 3 to 7 days after polypectomy by fiber colonoscopy. It is generally believed that no more than 8 polyps should be removed in one snare, but for young and middle-aged patients without hypertension and cardiovascular disease, the number of polyps removed can be appropriately increased.

2. Treatment of dark spots: There is currently no effective treatment for dark spots on the skin and mucous membranes, and generally no treatment is needed. If young patients feel that it is not good for beauty, they can be topically applied with "Lide" Xiaobanling, and applied once a day, morning and evening , Massage gently after application, there is a certain effect; or cosmetic surgery.

Seven. Prognosis

Utsunomiya et al. Followed up with 102 cases. Among the deaths, 42.9% died before 30 years of age due to intussusception and gastrointestinal bleeding; about 60% died after 30 years of age from malignant tumors. Liu Wen counted 8 deaths among 168 cases, 2 of them died of intussusception and intestinal torsion at the age of 26 and 27; 2 died of vomiting at the age of 25 and 40; 2 died at the age of 38 and 40 He died of small intestine cancer at the time; the other 2 died of cancer outside the digestive tract at the age of 34.