OVERVIEW
Gardner syndrome, also known as Weiner-Gardner syndrome, familial multiple colon polyp-osteoma-soft tissue tumor syndrome, and familial colon polyposis, is an autosomal dominant disease.In 1905, Gardner reported that colon polyposis and familial osteoma, soft tissue tumor, and colon cancer, and then in 1958, Smith proposed that the triad of colon polyp, soft tissue tumor, and osteoma was Gardner syndrome. The triad of colon polyps, soft tissue tumors and bone tumors was later proposed by Smith in 1958 as Gardner’s syndrome. It has a high malignant potential.
Etiology
The syndrome is caused by a single defective gene or several independent but closely linked genes.
Symptoms
The two main areas are GI polyposis and extra GI lesions.
1. Gastrointestinal polyposis
Polyps are widespread throughout the colon, numbering up to 100 or more; they are also common in the stomach and duodenum, but are less common in the jejunum and ileum. Polyps can be present for many years without causing symptoms. Symptoms usually appear after young adulthood. The main symptoms are diarrhea, abdominal pain, blood in the stool, anemia and intestinal obstruction. If there are obvious symptoms, intestinal polyps are often cancerous.
2. Lesions outside the digestive tract
There are mainly osteoma and soft tissue tumor.
(1) Osteoma: most of the osteomas in this syndrome are benign, ranging from slight cortical thickening to massive bone hyperplasia, and even huge osteomas with stems can be seen, mostly occurring in the skull, maxilla and mandible, and also occurring in the long bones of the limbs. There are also dental malformations, such as supernumerary teeth, blocked teeth, odontogenic cysts, odontogenic tumors, and so on. Osteoma and tooth formation abnormality are often preceded by colorectal polyps.
(2) Soft tissue tumors include multiple sebaceous cysts or dermatoid cysts and fibrous tumors, as well as lipomas and smooth muscle tumors.
Epithelioid cysts are found on the face, limbs and trunk, which are the characteristic manifestations of this syndrome. They are often seen in the pediatric age. This feature is very important for the early diagnosis of the syndrome. Fibromas are often subcutaneous and appear as hard nodules or lumps, or in combination with fibrosarcomas. Sclerofibromas usually occur outside the abdominal wall, in the abdominal wall and in the abdominal cavity, mostly at surgical wounds and in the mesentery. It is difficult to distinguish it from colorectal cancer, and it is easy to recur after resection, and sometimes it may cause narrowing of ureter and intestinal canal.
(3) Accompanying neoplasms such as thyroid tumor, adrenal tumor and adrenal cancer. There are no characteristic manifestations compared to familial colorectal polyposis.
It is important to note that there are atypical patients, some with polyposis without gastrointestinal lesions and others with gastrointestinal lesions without polyposis.
Examination
1. X-ray examination
Anyone who suspects osteoma or abnormal bone proliferation should take a front and side view film to find out whether there is cortical thickening or bone proliferation. Gastrointestinal barium meal imaging and barium enema double contrast imaging are helpful in detecting suspected polyps in the digestive tract.
2. Endoscopy
Perform fiberoptic colonoscopy. Gastroscopy can be considered for patients suspected of having gastric polyps or other gastric lesions. If polyps are found, biopsy will be performed.
3. Stool examination
The relative increase of Clostridium difficile and Dictyostelium spp. in the intestinal tract of patients with Gardner’s syndrome, fecal steroid gas chromatography and anaerobic bacteria culture, fecal cholesterol and primary bile acid concentration in patients with the syndrome are obviously increased.
Diagnosis
The diagnosis is confirmed by the presence of three major features of polyps, osteomas and soft tissue tumors of the large intestine. However, sometimes extradigestive lesions are latent, so they must be carefully examined, and at this time, family history is also important in the diagnosis. Osteomas and epithelioid cysts are often present before colorectal lesions from childhood, and even if there are no symptoms of polyposis, endoscopy should be considered, which is very important for early diagnosis. If the lesion has been resected, a detailed consultation and examination of the skin for surgical scarring should also be performed.
Differential diagnosis
This disease should be differentiated from hereditary gastrointestinal polyposis with mucocutaneous hyperpigmentation (Peutz-Jegher syndrome), hereditary colonic polyposis (Canada syndrome), Turcot syndrome, and other gastrointestinal polyposis, which are not associated with ectodermal abnormalities, which can help in the differentiation.
Complications
Common complications of this disease include gastrointestinal bleeding, infection, intussusception, carcinoma, and thrombosis.
Treatment
Intestinal polyps require early surgical treatment. If the possibility of cancer is high, prophylactic total resection of the corresponding intestinal segment is performed; if there is only a small number of adenomas in the intestine and there is no family history of colon cancer, colorectal resection and ileoanal anastomosis are preferred.
The management of extra-gastrointestinal lesions may vary from patient to patient, with some patients being followed for observation and others being operated on. For the treatment of sclerofibroma, although it can be completely resected and cured, but because of the diffuse infiltrative growth of tumor cells, it is sometimes difficult to completely remove, such as the residual will lead to recurrence. For those who cannot be completely resected, radiotherapy or non-hormonal anti-inflammatory drugs can be given.Patients over 40 years old must undergo regular checkups, which mainly include physical examination and colonoscopy.