Gardner's syndrome

Gardner's Syndrome

Gardner's syndrome skin manifestations

Gardner's syndrome is a rare genetic disorder characterized by the presence of multiple colorectal polyps, along with various other tumors and abnormalities. It is considered a variant of familial adenomatous polyposis (FAP) and is associated with a high risk of developing colorectal cancer. The syndrome is named after Eldon J. Gardner, who first described it in 1951.

Genetics

Gardner's syndrome is inherited in an autosomal dominant pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. The condition is caused by mutations in the APC gene, which is responsible for regulating cell growth and division. Mutations in this gene lead to the formation of numerous polyps in the colon and rectum, which can become cancerous over time.

Diagram of autosomal dominant inheritance

Clinical Features

Individuals with Gardner's syndrome typically develop hundreds to thousands of adenomatous polyps in the colon and rectum, usually during their teenage years or early adulthood. In addition to polyps, the syndrome is associated with various extracolonic manifestations, including:

• Osteomas: Benign bone tumors, often found in the skull and jaw.
• Epidermoid cysts: Skin cysts that can occur on the face, scalp, and other areas.
• Desmoid tumors: Fibrous tumors that can develop in the abdomen and other parts of the body.
• Dental abnormalities: Such as impacted teeth and supernumerary teeth.
• Congenital hypertrophy of the retinal pigment epithelium (CHRPE): Pigmented lesions in the retina that can be detected during an eye examination.

Diagnosis

The diagnosis of Gardner's syndrome is based on clinical findings, family history, and genetic testing. Colonoscopy is used to identify and monitor the development of polyps in the colon and rectum. Genetic testing can confirm mutations in the APC gene, which helps in diagnosing the condition and identifying at-risk family members.

Management

Management of Gardner's syndrome involves regular surveillance and preventive measures to reduce the risk of cancer. This includes:

• Regular colonoscopy: To monitor and remove polyps before they become cancerous.
• Prophylactic colectomy: Surgical removal of the colon may be recommended to prevent colorectal cancer.
• Monitoring for extracolonic manifestations: Regular check-ups to detect and manage other tumors and abnormalities associated with the syndrome.

Related Pages

• Familial adenomatous polyposis
• Colorectal cancer
• APC gene