Cowden’s syndrome

Definition

• PTEN mutation
• Cowden syndrome comes under the umbrella term of PTEN hаmartoma tumor syndromes
  • Once thought to be distinct genetic syndromes, the different clinical presentations of ΡHТS illustrate the heterogenous clinical spectrum
    • Includes
      • Cowden’s syndrome
        • Most well studied
      • Bannayan-Riley-Ruvalcaba syndrome
      • Lhermitte-Duclos disease
      • Proteus-like syndrome

Clinical features

• Hamartomas
• Trichilemmoma
• Oral fibromas
• Punctate palmoplantar keratoses,
• Increased risk of cancer
  • Breast
  • Thyroid
  • Endometrium

Genetics

• Autosomal Dominant
  • PTEN gene on chromosome 10q
  • Tumour suppressor
• Risk of breast cancer
  • 30 - 50% at 50yrs

Diagnosis

Management

• Colonoscopy - age 35
• Thyroid USS - age 7
• Renal USS - age 40
• Breast MRI - age 30
• TVUS - Age 35

https://www.eviq.org.au/cancer-genetics/adult/risk-management/546-pten-pten-hamartoma-cowden-risk-management#cancer-tumour-risk-management

Pictures

Trichilemmoma

Oral fibromas