Gardner syndrome is associated with all of the following except: March 2010
Correct Answer: Tumors of the CNS
Description: Tumors of the CNS Gardner syndrome is a variant of the disease 'familial adenomatous polyposis' (FAP), an inherited disease that is characterised by gastrointestinal polyps, multiple osteomas (benign bone tumours), thyroid tumors, dental abnormalities and skin and soft tissue tumours. Polyps tend to form at pubey with the average age of diagnosis around 25 years of age. In almost all patients, polyps will progress to malignancy, resulting in colorectal cancer so that timely detection is essential. Clinical features of Gardner syndrome can be divided into two types, cutaneous and non-cutaneous. The most noticeable cutaneous feature of Gardner syndrome is the appearance of epidermoid cysts. These cysts can be differentiated from ordinary epidermoid cysts by the following factors: - Epidermoid cysts of Gardner syndrome occur at an earlier age (around pubey) than ordinary cysts - Epidermoid cysts occur in less common locations such as the face, scalp and extremities compared to ordinary cysts - Cysts tend to be multiple in over half of the patients with Gardner syndrome As with ordinary epidermoid cysts, cysts in Gardner syndrome are usually asymptomatic (without symptoms), however in some cases they may be pruritic (itchy) and/or inflamed, and they may rupture. Other cutaneous features include fibromas, lipomas, leiomyomas, neurofibromas and pigmented skin lesions. Non-cutaneous features include: - Gastrointestinal polyps that nearly always transform into colonic adenocarcinomas (colon cancer). - Osteomas - these benign bone tumours are essential in making the diagnosis of Gardner syndrome. They occur most commonly in the mandible (jawbone) but may also grow in the skull and long bones. - Dental abnormalities - as well as osteomas in the jaw there may be other dental abnormalities such as unerupted extra teeth and caries - Multifocal pigmented lesions of the fundus in the eye - seen in 80% of patients. These lesions may be present sholy after bih and can be the first marker of the disease.
Category:
Pathology
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