Proteus Syndrome

Definition

Proteus syndrome is a rare disease characterized by partial gigantism, lipomas and epidermal nevus.

Symptoms

  • Partial gigantism
  • Lipomas
  • Epidermal nevus
  • Bone hyperplasia

Reasons

AKT1 gene mutation.

Diagnosis

Clinical criteria, genetic testing.

Treatment

Surgery, symptomatic treatment.

Which Polyclinic Should You Apply To?

Genetics Polyclinic

What to Do in an Emergency?

In case of risk of thromboembolism, emergency services should be consulted.

This page is for general information purposes only.