Proteus Syndrome – Causes, Symptoms and Treatments!

Proteus Syndrome – Causes, Symptoms and Treatments that we should not ignore. In addition, Proteus syndrome is a congenital disease that causes pathological exaggerated growth of the skin with subcutaneous tumors, atypical development with macrodactyly and hemihypertrophy.

It is an extremely rare disease, about 101 cases have been described worldwide. Because of this rarity, there are not many studies in the area today, and almost all events, practically, have no solution.

Proteus syndrome was first recognized as a distinct nosological entity in 1979 by Cohen and Hayden, who described it as a new hamartomatous syndrome.

The term hamartoma comes from the Greek Hamartia error, Oma tumor growth According to Vieira et alem 1983 Wiedeman proposed the name Proteus syndrome for this disease, describing four cases with the following characteristics: partial gigantism of the hands and feet, pigmented nevus, hemihypertrophy , subcutaneous tumors, macrocephaly and other cranial and visceral anomalies.

The name Proteus derives from the Greek god marine god, son of the titans Tethys and Oceano, or even from Poseidon, considered to have prophetic gifts that reveal destiny, elusive, aloof from humans, capable of assuming monstrous appearances.

It is said that this disease would have remained unknown, had it not been for the case of Joseph Merrick, The Elephant Man was a particularly serious case of this syndrome, in addition to the neurofibromatosis that he is also believed to have had.

In life, Joseph, as a child, was rejected for his appearance, thus being expelled from home. After that, he tried to sell books, but he was not very successful because of his appearance. After months of trying to raise money to live, he was “rescued” by a circus of freaks, where he was put on an attraction under the title “The most degrading part of being human.

After circus times, a doctor from the surroundings took him in for analysis and treatment. In 1890, Joseph died of an enlarged brain and a broken skin.

Causes of Proteus Syndrome: Proteus  Syndrome is caused by a mutation in the ATK1 gene that arises spontaneously during fetal development. Therefore, Proteus Syndrome is not hereditary, not passing from parents to children.

Symptoms of Proteus Syndrome:  The main signs and symptoms of Proteus Syndrome include: Deformities in the Arms, Legs, Skull and Spinal Cord.

  • Body asymmetry;
  • Excessive skin folds;
  • Column problems ;
  • Longer face;
  • heart problems ;
  • Warts and café au lait spots on the body.

In addition, some patients may also experience other symptoms such as intellectual difficulties, seizures, or loss of vision. However, in most cases, patients develop their intellectual abilities normally and can lead a normal life.

Treatment for Proteus Syndrome:  There is no definitive treatment and includes surgery to remove excess skin, tumors and even deformed limbs. In addition, psychological support is extremely important.

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