Gardner syndrome Q87.0

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.

In approximately 80% of patients autosomal-dominant inherited, in approximately 20% of cases spontaneous, mutations of the APC gene(adenomatous polyposis coli gene; gene locus: 5q21-q22), which functions as a suppressor gene and belongs to the family of proto-oncogenes. Consequences are the interruption of signal transduction for the normal development of intestinal epithelia and the expression of intestinal polyps.

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

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

The main medical problem of GS is premalignant intestinal polyposis mainly in the colon. Sporadically, polyps also occur throughout the small intestine.

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

1. Bruce H et al (2009) Cutaneous manifestations of internal malignancy. Cancer J Clin 59: 73-98
2. Chelaifa K et al (2003) Adrenal adenoma in a patient with Gardner's syndrome. A case report. Acta Radiol 44: 158-159
3. Gardner EJ (1951) A genetic and clinical study of intestinal polyposis: a predisposing factor for carcinoma of the colon and rectum. Am J Hum Genet 3: 167-176
4. Gardner EJ, Plenk HP (1952) Hereditary pattern for multiple osteomas in a family group. On J Hum Genet 4: 31-36
5. Gardner EJ, Richards RC (1952) Multiple cutaneous and sub-cutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis. At J Hum Genet 5: 139-147
6. Neri S et al (2002) An unusual case of genodermatosis with familial gastrointestinal polyposis, angiomatous malformation and ascites. Dermatology 205: 57-59
7. Parks ET et al (2001) Gardner syndrome. J Am Acad Dermatol 45: 940-942
8. Rai AT et al (2001) Aggressive fibromatosis of the neck in a patient with Gardner's syndrome. Neuroradiology 43: 650-652
9. Rütten A et al (1990) Gardner syndrome with pilomatrixoma-like hair follicle cysts. Dermatologist 41: 326-328
10. Scott FD et al (2003) Gardner's syndrome in an HIV-infected patient.gastrointest Endosc 57: 429-431
11. Török L et al (1990) Gardner syndrome. dermatologist 41: 83-86