Proteus Syndrome

Proteus Syndrome: Proteus syndrome is a rare disorder caused by a mosaic mutation that is characterized by overgrowth of various tissues of the body. Affected individuals may experience a wide variety of complications that may include progressive skeletal malformations, benign and malignant tumors, vascular malformations, bullous pulmonary disease, and certain skin lesions. The condition is perhaps best known for the patient Joseph Merrick who suffered from it and was widely known as the Elephant Man.

Epidemiology: The diagnosis is often made in later infancy or early childhood. There are roughly 50 cases reported in the literature.

Risk Factors: Risk factors are currently unknown.

Symptoms: Proteus syndrome may present in several diverse manners. Patients may experience hemihypertrophy or partial, asymmetric, enlargement of the hands or feet. Macrocephaly and plantar hyperplasia have also been reported. They may also present with numerous pigmented nevi, lymphangiomas, and lipomas.  

Differential Diagnosis: Neurofibromatosis, Klippel-Trenaunay-Weber Syndrome

Investigations: Radiography is useful for establishing a baseline and CT or MRI is helpful in evaluating intracranial, pulmonary, and thoracic complications.

Treatment: Currently, only prophylactic and symptomatic treatments exist.


Case #1. Axial T2-weighted MRI image at mid convexity demonstrating polymicrogyria and overgrowth of frontal bone with  associated skull defect at the expected position of the frontal suture.