What is Cowden’s syndrome/ multiple hamartoma syndrome?

Cowden’s syndrome/ multiple hamartoma syndrome

It is one of the inherited cancer predisposition syndromes resulting from a defect in the PTEN (phosphatase and tensin homolog gene) tumour suppressor gene. It is inherited as AD fashion.

Associated cancers:

  • Breast carcinoma
  • Thyroid carcinoma
  • Gastrointestinal cancer
  • Pancreatic cancer
  • Endometrial carcinoma

Clinical features of Cowden's syndrome:

  • Multiple Intestinal hamartomatous polyps (often the first manifestation)
  • Papillomatous papule
  • Acral/palmoplantar keratosis
  • Trichilemmoma (benign tumours of hair follicles)
  • Macrocephaly
  • Intellectual disability/autistic spectrum disorder
  • Thyroid cyst
  • Lipoma
  • Haemangioma

Cowden's syndrome or multiple hamartoma syndrome

Source: 
•Davidsons Principles and Practice of Medicine 23 edition; page: 57 (table-3.11), 1321(table-33.2)
•2- Step Up to MRCP Review Notes for P1 & P2 by Dr Khaled El Magraby 1st Edition; page: 327

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