Gardner syndrome Q87.0

Gardner, 1951

Gardner syndrome is a severe form of familial adenomatous polyposis (FAP). Both syndromes are caused by a mutation in the tumor suppressor gene APC. The different phenotypes are explained by the size of the gene and the different location and type of mutation. The mutation variant "Gardner syndrome" is characterized by multiple adenomas in the colon and rectum as well as by striking extraintestinal features such as osteomas and multiple gu-like skin and soft tissue tumors. Colonic polyposis in Gardner syndrome, as in familial adenomatous polyposis, is considered an obligate precancerous condition with a high risk of degeneration beginning at the age of 15.

Dermatologically, Gardner syndrome may present with the following symptoms:

• Fibromas
• Epidermal cysts
• Pilomatrixomas
• Lipomas
• Neurofibromas
• Leiomyomas
• primary osteomas of the skin especially in the head area and occasionally
• atheromas of the trunk.

Incidence: 1/8,300-1/16,000 live births.

In approximately 80% of patients, these are autosomal dominant mutations in the APC gene (adenomatous polyposis coli gene; gene locus: 5q21-q22), which functions as a tumor suppressor gene and belongs to the proto-oncogene family. The consequences include disruption of signal transduction necessary for the normal development of intestinal epithelium and the formation of intestinal polyps.

Occurs equally frequently in both sexes.

Skin changes and bone abnormalities often appear before the development of intestinal polyps. Cutaneous epidermal cysts develop in 35% of patients with GS, and osteomas in 80%.

Extracutaneous manifestations: Osteomas in the skeletal system, primarily involving the mandible, the cranial vault, the long bones, the ribs, and the pelvic bones. Additionally: retroperitoneal desmoid tumors, hypertrophy of the retinal pigment epithelium (CHRPE).

Precancerous intestinal polyposis: The primary medical concern associated with GS is precancerous intestinal polyposis, primarily in the colon. In isolated cases, polyps may also occur throughout the small intestine.

Peutz-Jeghers Syndrome (A rare, autosomal dominant polytopic tumor syndrome characterized by monocular lentiginosis (the primary clinical symptom) of the lips, nose, and buccal mucosa, as well as intestinal hamartomatous polyps and carcinomas that primarily manifest in the small intestine. Association with other tumors of internal organs is possible)

Jaffé-Lichtenstein-Uehlinger syndrome (A rare, episodically progressive skeletal malformation beginning between the ages of 5 and 15 as a result of fibrous osteodystrophy, which is frequently associated with endocrine disorders and pigment abnormalities (see below: dyschromia). 

The risk of developing colon cancer is close to 100% (adenocarcinoma).

Monitoring and, if necessary, polypectomy with histological preparation by gastroenterologists. Treatment of the skin changes, see there.

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