History The relationship between soft tissue and bone tumors and colonic polyps was first identified by Devic and Bussy in 1912, but the genetic background was not known. In 1951 Gardner studied in detail a family with colorectal polyposis associated with osteomas of the skull and mandible and soft tissue tumors and concluded that colorectal polyposis was associated hereditarily with osteomas and soft tissue tumors. This syndrome was subsequently reported by Gardner and Plenk (1952), Gardner and Richards (1953), Oldfield (1954), Weinei and Cooper (1955), and Danning and lbrahim (1965). In 1958, Smith named Gardner’s syndrome as a disease with three features: colorectal polyposis, osteoma and soft tissue tumor. By 1967, Macdonald et al. reviewed the literature and reported a total of 118 cases. In 1975, Utsunomiya further called the disease with the above three features as complete Gardner syndrome. The original report and follow-up data of Gardner’s syndrome suggested that the syndrome was caused by a single defective gene or several independent but closely related genes.
Whether the syndrome and familial colorectal polyposis are the same genetic disorder is controversial, and Mckusiek has evidence that the conditions leading to familial polyposis are different and that the syndrome is the result of the action of a single gene. Bussey also suggested that all adenomatous polyps can be associated with extragastric lesions of varying degrees. Kyoosuke Ushio et al. reported that more than half of patients with familial colonic adenomas had underlying bone tumors, particularly in the mandible, and that soft tissue tumors such as epithelial cysts were seen during surgery and biopsy of familial colonic adenomas, so the two disorders should be essentially the same disorder.
Cole et al. demonstrated replication of stromal cells in the colonic mucosa of patients with colonic polyposis, and Alvin et al. demonstrated increased DNA, RNA, and protein formation in the surface cells of the Libequin line in patients with this syndrome using a colonic mucosal incubation technique designed by Deschner et al. Although the role of genetic factors in this sign is well established, increased susceptibility to environmental carcinogens in this physique itself can also lead to qualitative changes in mucosal epithelial cells.
The clinical manifestations are mainly two major aspects of GI polyposis and extra GI lesions.
1.Gastrointestinal polyposis: polyps are widely present in the whole colon, and the number can be more than 100; they are also common in the stomach and duodenum, but less common in the jejunum and ileum. Polyps can generally exist for many years without causing symptoms. Symptoms usually appear after young adulthood. Initially, there may be only loose stools and increased stools, which are easily ignored by patients.
2, extra-digestive tract lesions: mainly osteoma and soft tissue tumors, etc.
(1) Osteoma: Most of the osteomas in this syndrome are benign, ranging from slight cortical thickening to massive osteophytes, and even huge osteomas with stems are seen, mostly in the skull, upper collar bone and mandible, and also in the long bones of the limbs. Fader referred to dental malformations as feature 4 of the syndrome. Osteomas and abnormal tooth formation often precede colorectal polyps.
(2) Soft tissue tumors: there are multiple sebaceous cysts or dermatomal cysts and fibrous tumors, and lipomas and smooth muscle tumors are also seen.
Epithelioid cysts are usually found on the face, extremities and trunk, which are the characteristic manifestations of this syndrome. They are often seen in pediatrics. This feature is very important for early diagnosis of the syndrome. Fibromas are often subcutaneous and present as hard nodules or masses, or in combination with fibrosarcoma. Hard fibroids usually occur outside the abdominal wall, in the abdominal wall and in the abdominal cavity, mostly at surgical wounds and on the mesentery. It is difficult to distinguish from colorectal cancer and is prone to recurrence after resection, sometimes inviting stricture of the ureter and intestinal canal.
(3) Concomitant neoplasia: such as thyroid adenoma, adrenal adenoma and adrenal carcinoma, etc. There are no characteristic manifestations compared to familial polyposis of the large intestine. Recently, it has been reported that this sign is mostly seen in retinitis pigmentosa and appears before the occurrence of colorectal polyps, which is one of the signs of early diagnosis.
It is important to note that there are still some atypical patients, some with polyposis without extragastric lesions, and others with extragastric lesions without polyposis.
1.Visual examination: check the face, teeth, thyroid, limbs for abnormalities, especially observe whether there are sebaceous cysts, epithelioid cysts, pigmented nevi, dental caries, multiple recurrent dental tumors, fibroids and osteomas.
2.X-ray examination: Anyone suspected of osteoma or abnormal bone hyperplasia should take frontal and lateral films to understand whether there is cortical thickening or bone hyperplasia. Gastrointestinal barium meal angiography and barium enema double contrast angiography are both helpful in detecting suspected polyps in the digestive tract.
Burkitt noted that dietary causes and slowed intestinal transport time can increase exposure to colonic carcinogens, but Watne reported that patients with Gardner syndrome had a 3-fold faster intestinal transport rate than controls.
3. Endoscopy: Colonoscopy is preferable. Gastroscopy may be considered for patients suspected of having gastric polyps or other gastric lesions.
4.Fecal examination: Fecal steroid gas chromatography and anaerobic bacterial culture can show high concentrations of fecal cholesterol and primary bile acids in patients with this syndrome. This is associated with a relative increase of Clostridium and Dictyostelium spp. in the intestine.
The diagnosis is confirmed by having 3 major features of multiple polyps, osteomas and soft tissue tumors of the large intestine. However, sometimes the lesions outside the digestive tract are latent, so careful examination is necessary, and in this case, family history is also important in the diagnosis. Often osteoma and epithelioid cysts are present before colorectal lesions from childhood, and even if there are no symptoms of polyposis, a speculum examination should be considered, which is very important for early diagnosis. If the lesion has been removed, detailed consultation and examination of the skin surgical scar should also be performed.
Treatment of colorectal lesions is the same as for familial polyposis, with surgery being the mainstay, and Moertel et al. advocate total rectal and colectomy for multiple polyposis because the incidence of rectal cancer can be as high as 5% to 59%. In contrast, St.? Mark Hospital’s Bussy statistics, however, concluded that the cumulative risk of patients forming rectal cancer after having an ileorectal anastomosis was only 3.6%. Many surgeons have found that the incidence of cancer with a permanent ileostomy exceeds 3.6%.
It has been suggested that prophylactic colectomy and ileorectal anastomosis can be performed, but the indications for the procedure must be strictly controlled. It is important that the ileocecal anastomosis is to the rectum and not to the sigmoid colon. Electrocautery is not advocated because of the large number of polyps, and Hubbard observed that polyps in the rectal segment regressed after this procedure. In addition, the patient’s colonic transit time could be reduced from 19.4 hours to 14.2 hours. Stool steroids may disappear completely, and goosebile oxycholic acid (CDCA) and bile acid concentrations are significantly higher, while lithotripsy and deoxycholic acid are significantly lower.
Decosse has recently observed that oral administration of high doses of vitamin C may contribute to the regression of polyps in the rectal stump.
The management of extragastric lesions can vary from disease to disease, with some patients being followed up and observed, while others may undergo surgery. For the treatment of sclerofibroma, although it can be completely resected and cured, it is sometimes difficult to completely remove the tumor because of the diffuse infiltrative growth of the tumor cells, and the residue will definitely cause recurrence. For those who cannot be completely removed, radiotherapy or non-hormonal anti-inflammatory drugs can be given. Patients with this syndrome should maintain lifelong contact and cooperation with their physicians, and in patients over 40 years of age, regular checkups, including mainly physical examinations and proctoscopies, are mandatory.
Complications: Common complications of this disease include gastrointestinal bleeding, infection, intussusception, cancer and thrombosis.
How should Gardner syndrome be prevented? This disease is a chromosomal dominant disorder with family history, which is difficult to prevent. Prenatal genetic disease screening and eugenics are preventive measures for this disease.