What is Proteus Syndrome?

Proteus Syndrome is a rare congenital disorder. The disorder is quite complex and is characterized by a variety of abnormalities. There is usually multisystem involvement and great clinical variability in the signs and symptoms. Proteus syndrome is a type of hamartomatous disorder and is associated with irregular overgrowth of many different body tissues. People with the disorder often have numerous abnormal tumors, sometimes covering more than half the body. Partial gigantism is also common among people with Proteus syndrome. The disorder varies from person to person and can vary from mild to severe. However, at any time, seemingly mild cases can progress into more severe forms of the condition.

Who gets Proteus Syndrome?

Proteus Syndrome is extremely rare. Slightly more than two-hundred cases of the condition have been confirmed. The prevalence is less than one per one-million live births. Proteus Syndrome affects both sexes equally and all races equally. Although the condition is always present at birth, it is usually not recognized until later in life. The syndrome does not appear to be hereditary.

What causes Proteus Syndrome?

The etiology of Proteus Syndrome is not known. Research continues to find the cause of the condition. The current hypothesis is that the condition occurs as a result of mutations of the PTEN gene either on chromosome 10 or chromosome 16. It is almost certain that Proteus Syndrome is the result of a somatic mutation. Meaning, there is an alteration in DNA that occurs after conception and can occur in any body cell other than germ cells (reproductive cells).

What are the symptoms of Proteus Syndrome?

There are usually no symptoms of Proteus Syndrome present at birth. The condition is progressive, meaning it gets worse with age. Proteus Syndrome is unique because there is a great variability in signs and symptoms. Signs and symptoms can include partial enlargement of the hands and/or feet; asymmetry of limbs; overgrowth of one side of the face, body, or limbs; darkened discolored skin; tumors; lipomas; asymmetry of the skull; vascular disorders; accelerated growth during infancy and early childhood; scoliosis and kyphosis; muscle atrophy; skin lesions; mental retardation; cystic lung disease; visceral overgrowth of organs; internal vascular malformations; congenital heart defects; and convulsions.

How is Proteus Syndrome diagnosed?

Because of the great clinical variability associated with the condition, it is extremely hard to diagnose Proteus Syndrome. This difficulty is compounded by the rarity of the condition. Patients who have Proteus Syndrome usually have to see countless doctors and specialists before they are diagnosed. There are numerous conditions that need to be ruled out before the condition can be diagnosed. There is not test for Proteus Syndrome. Diagnosis comes once everything else has been ruled out and there is evidence supporting the diagnosis.

How is Proteus Syndrome treated?

There is no cure nor is there a specific treatment for Proteus Syndrome. Treatment is aimed at treating the symptoms and preventing complications. Treatment is life-long and is highly individualized, meaning it varies from patient to patient depending on the symptoms present.

What is the prognosis of those with Proteus Syndrome?

Proteus Syndrome is variable in prognosis. It varies from patient to and patient depending on the severity of the condition and how progressive it is. Approximately twenty percent of patients experience early death as a result of complications of the condition. However, with prompt diagnosis and appropriate medical care, patients with Proteus Syndrome can expect to live a relatively normal life.

Sources

Wikipedia

eMedicine