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Gardner's syndrome

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Gardner's syndrome is characterized by the presence of polyposis coli, soft tissue and bony tumours. It has an autosomal dominant inheritance (gene located on the long arm of chromosome 5).

Gardner's syndrome is associated with:

  • osteomas or exostoses of the mandible, skull and sinuses
  • epidermoid or sebaceous cysts
  • dermoid tumours, especially in abdominal incisions
  • postoperative mesenteric fibromatosis

Carriers of the gene have congenital hypertrophy of the retinal pigment epithelium (revealed as black spots on fundoscopic examination). This feature is valuable in aiding detection of carriers before the development of symptoms.

Presentation is usually with bloody diarrhoea (median age at onset is 20 years old).

Treatment measures include:

  • careful follow-up is required
  • subtotal colectomy and treatment (electrodesiccation) of rectal polyps

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