Gardner Syndrome

Description

Gardner Syndrome is an autosomal dominant phenotypic variant of familial adenomatous polyposis (FAP), characterised by polyps lining the intestinal mucosa surface with high potential for malignancy. 

Pathophysiology

Gardner syndrome is caused by mutation in the adenomatous polyposis coli (APC gene) located in chromosome 5q21, a tumour suppressor gene responsible for producing the APC protein.

Clinical Features

Most commonly presents with epidermoid cysts. Extracolonic features often precede diagnosis of colonic polyps.

• Epidermoid cysts
• Adenomatous polyps of the gastrointestinal tract
• Gardner fibromas
• Desmoid tumours – typically arising from the aponeurosis of rectus abdominal muscle of multiparous muscle. 
• Osteomas – especially mandible, skull and long bones
• Lipomas
• Dental abnormalities – Impacted and supernumerary, multiple jaw osteomas and odontomas
• Periampullary carcinoma
• Congenital hypertrophy of the retinal pigment epithelium (CHRPE)
• Papillary thyroid carcinoma

Diagnosis & Classification

No staging classification system.

Differential Diagnosis

• Familial adenomatous polyposis
• Turcot syndrome – Presents with cafe-au-lait spots, whereas Gardner Syndrome presents with epidermoid cysts

Management

Incurable. Prognosis varies. A patient with an APC mutation almost certainly develops colon cancer by age of 40 if polyp growth is uncontrolled.