What is Cowden’s syndrome/ multiple hamartoma syndrome?

Cowden’s syndrome

AKA 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

Source: 

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