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Proteus Syndrome pictures

What is Proteus Syndrome ?

Proteus syndrome is a terribly disfiguring and rare medical condition which occurs when the gene that manages growth is altered. Individuals who are suffering from this condition have lop-sided and extremely large limbs relative to their bodies. They also have oversized bones or organs, elevated rough skin as well as benign tumors all over the body. Proteus syndrome is also typified by dense lymph cells or blood vessels in the body and blood clot formation.

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This bizarre medical condition was named by German pediatrician Hans-Rudolf Wiedemann after Proteus, a Greek god who has the ability to alter his body shape. The illness became popular after Joseph Merrick of “The Elephant Man” movie suffered from the condition as well.

Causes of Proteus Syndrome

It is not clear as to what causes Proteus syndrome, but scientists believe that it occurs due to mutations in the gene that monitors growth which happen during the early stages of fetal development. Genetic mutations are neither hereditary nor due to environmental exposure; nor are they consequences of actions done by the mother prior to or during the course of pregnancy.

There are about 50 documented cases of Proteus syndrome worldwide and studies showed that it is not contained to a specific gender, race and geographical location. The severity of the condition varies from person to person, with some so severe resulting in extreme pain and complications, while others are only slight that having a normal life is possible. The condition only becomes apparent during the latter part of infancy or early part of childhood.

Proteus syndrome diagnosis and treatment

Due to the rarity of the condition, doctors find it extremely difficult to diagnose Proteus syndrome accurately. The doctors will assess the distribution of patchy overgrowth, the presence of similar features within the family and the overgrowth progression. Aside from these, he/she will also look into the specific characteristics that are essential for accurate diagnosis.

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The treatment for the condition is individualized based on the needs of the patient. This often involves addressing the symptoms and complications either through medication or surgical intervention.

Proteus syndrome treatment may be available but getting the right diagnosis and finding a doctor with vast experience in treating the condition can be really frustrating. Learning about the condition and talking to others suffering from the disorder can help the patient and his/her family cope, assuring them that they are not alone.

Proteus Syndrome Pictures

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1 Comment

  1. my husband was born with twom enlarged fingers and it also affects some of the padding. He went to drs. and they rmoved part of one finger at the age of 18. he’s now 60 years old and the part amputated is still growing. In fact his whole hand has in the area affected is continously growing.. I’am not sure if there is anyting you can do for him, but he might be one of the oldest people with this syndrome.
    he’s led a fairly normal life. Married and two children he never wanted children because of this. He was never told anyting. They weren’t sure if it was inherited or not. But he is the oldest of 4. The other 3 children did not get this syndrome. We had two children of our own and the also are free of this syndrome and now have a grandson.

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