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Proteus Syndrome

Proteus Syndrome Definition

Proteus syndrome or Wiedemann’s syndrome is a congenital disorder resulting in overgrowth of body parts along with abnormalities of bone and skin. It involves a congenital malformation disorder where an organ or tissue overgrows in a patchy distribution.

Proteus Syndrome Facts

It was first recognized by Michael Cohen Jr. in the year 1979 and later named as proteus syndrome by Hans-Rudolf Wiedemann, a German pediatrician, in the year 1983. Hence, this is also known as Wiedemann syndrome. Proteus syndrome has been named after the Greek God Proteus who is believed to be capable of changing his form or shape as part of self-defense. This syndrome was popularized when determined that Joseph Merrick who played the patient in the movie and play “The Elephant Man” was suffering from proteus syndrome and not neurofibromatosis, as commonly believed until then.

Various other symptoms are noticed in proteus syndrome along with uncharacteristic growth of skin, head and bones. It is a rare disorder and generally classified as hamartomatous. It has been found to affect males more than females. The condition cannot be identified until early childhood or later infancy. It depends on the rate of cutaneous lesion development or degree of overgrowth.

Proteus syndrome is a variable condition and its severity varies from mild to severe cases. The rarity and varying manifestations make it more difficult to be recognized. Partial gigantism is also commonly observed thus increasing the complications.

Proteus Syndrome Symptoms

The various signs associated with proteus syndrome are as follows:

  • Overgrowth, gigantism and irregularity of the limbs.
  • The various organs and bones of the body are abnormally increased in size.
  • There is a rise in the skin along with roughness on the surface.
  • Either overgrowth or undergrowth of fat is noticed on various parts of the body.
  • Deep lines are formed on the feet’s sole as the tissue is soft there. Overgrowth of these tissues is also commonly observed.
  • Formation of benign tumors.
  • A life threatening condition where deep vein blood clots in the lungs.
  • Overgrown lymphatic or blood vessels which form rough patches.
  • Dental anomalies
  • Learning disabilities due to mental retardation.
  • Malformations of connective tissue nevi, lipomas, epidermal nevi or vascular tissues.
  • Pulmonary cystic malformations
  • Ovarian cyst adenomas
  • Thymic enlargement or splenomegaly
  • Scoliosis
  • Strabismus

Proteus Syndrome Causes

Proteus syndrome is a rare disorder and a little more than 200 cases have been confirmed so far. The occurrence of this disorder is even less than 1 in one million live births. Though this condition is present at birth, it cannot be recognized until later. It does not seem to be hereditary.

Research is being carried out to determine the cause of proteus syndrome and so far its etiology is not known. However, according to some presently believed hypothesis, the condition develops due to PTEN gene mutation either on chromosome 16 or chromosome 10. It is also accepted that proteus syndrome occurs due to somatic mutation like a change in DNA occurring after conception. This can take place in any body cell except the germ cells.

Proteus syndrome Pictures

Picture 1 : Proteus syndrome (clinical appearance) -(photo)

Image source : emedicine.medscape.com

Picture 2 :  Proteus syndrome with gigantism of the macrodactyly and feet. (photo)

Image: emedicine.medscape.com

Proteus Syndrome Diagnosis

Due to the extreme variability in conditions of proteus syndrome, its diagnosis is rather difficult. This is compounded with the rare occurrence of the condition. A lot many conditions have to be ruled out before the actual diagnosis of the condition. There are no molecular tests available and the imaging tests too are not reliable in this condition.

Proteus Syndrome Prognosis

The prognosis for proteus syndrome condition varies widely from patient to patient. It depends on the condition’s severity and the rate of its progression. On an average, 20 percent patients of proteus syndrome die at an early age due to the complications of the disorder. Nevertheless, proper medical care and prompt diagnosis can be helpful in lengthening the patient’s life and he/she can live a normal life.

Proteus Syndrome Treatment

There is no specific treatment or cure for proteus syndrome. However, the symptoms can be treated in some cases and measures are taken to prevent any further complications. The treatment widely varies from one patient to another based on the individual symptoms and is usually life-long.

But all is not hopeless for the patients suffering from proteus syndrome as doctors and researchers from Australia have found that a drug named Rapamycin is an effective proteus syndrome treatment for abnormal growths. Research is being carried out in London too to find the exact cause of proteus syndrome and positive results are being expected.

Proteus Syndrome Foundation

The Proteus Syndrome Foundation is a non-profit organization founded in the year 1993. It is governed by a Board of Directors. Most of the board members are parents with a child diagnosed with proteus syndrome. The foundation aims to provide support to the patients and their families. It also promotes general public and medical staff education on the subject. Research work on proteus syndrome is also supported by the foundation. A newsletter including features like information, photos, stories and latest developments is published to raise funds.

References:

http://emedicine.medscape.com/article/948174-overview

http://en.wikipedia.org/wiki/Proteus_syndrome

http://www.medterms.com/script/main/art.asp?articlekey=5087



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