Proteus Syndrome

What is Proteus Syndrome?

Proteus syndrome is another form of disease that is rare and congenital in origin. The condition is also referred as Wiedemann’s syndrome, coined after Hans-Rudolf Wiedemann. The condition is characterized by the overgrowth of skin and bone development. There is also growth of the body tissues that makes the affected grow in size asymmetrically. Accordingly, tumors of the body are an effect of the condition. The condition is identified or coined as Proteus because of the Greek god who changes or has the capability to change his shape. Indeed a rare condition for it has been only 200 accounted cases of Proteus syndrome. About 1 out of 1,000,000 live births have been reported for Proteus syndrome, indicating that it is such a rare of a condition.


There was one notable case of Proteus syndrome, the affect was referred as the “Elephant Man” for his distinct appearance change. Another case was from a woman who had grown increasingly as she aged. According to study, those affected become incapacitated or has difficulty in doing tasks. As they continually grow, they become prone or at risk for bone problems such as scoliosis, hip dislocations and instability. The condition is said to affect men more commonly than women.

Symptoms

As we all know, the condition Proteus syndrome involves skin overgrowth and as well as the bones. Other body components that are found to be in over its size are the muscles, fats and blood and our lymphatic system. The growth can be identified as cerebriform connective-tissue nevi. You may be wondering if the deformities are acquired as the child is born, the answer is no. As the child is growing in age and size, the manifestation of the disease process shall reveal in time. Here are the following accompanying symptoms of Proteus syndrome:

  • Asymmetric hypertrophy or increase size of the face.
  • Increase in size of the limbs and the hands.
  • Cutaneous lesions are found.
  • Cystic malformation in the lungs but are considered rare.
  • Deep vein thrombosis is at risk of developing. Embolism would result and shall place the affected at risk of death.
  • Mental difficulties – It is noted that the affected may have learning disability or retardation.

Complications may include ambulatory restrictions, instability and pulmonary affectation. Once the pulmonary system is affected, the possibility of mortality increases.

Causes

The condition is believed to be from an unknown cause or idiopathic in sense. But as noted, the syndrome typically occurs in healthy families. Genetics has been linked to the development of this syndrome. It has been noted that chromosome 10 has suggested a link in to the condition. Others had studies that showed link to chromosome 16 for to develop Proteus syndrome.

It has been noted that the disease process involved somatic mosaicism gene, the one that has not been truly identified and studied. As an effect of the gene, hyperplasia or increasing number of the cells would come about and shall result to the increasing size of the affected person’s limbs, digits, feet and etc.

Diagnosis

Proteus syndrome can be diagnosed through physical assessment. Gross growth of the limbs is visible and shall significantly suggest for Proteus syndrome. The other tests include:

  • Radiographic studies of the skull, bones and limbs.
  • MRI is also essential in the diagnosis of the condition.
  • Skin biopsy is also a confirmatory test.
  • Karyotype analysis would help in the identification of the characteristic gene of Proteus syndrome.

Treatment

Treatment for this condition is aimed to protect the client from stigma and to minimize the physical consequences of Proteus syndrome. Here are the following assistive treatments for Proteus syndrome:

Antithrombic prophylaxis

This is indicated for the patients who have suffered from vascular malformations.

Rapamycin therapy

This is indicated for patients who have suffered from cystic lesions of the pulmonary system. Reports have shown that the rapamycin therapy is effective in attaining the normal respiratory function.

The cerebriform care

One should keep the area clean and dry. Application of antibacterial lotion to the area is a must. Protect from infection, keep the area away from being wounded or be inflicted of a lesion.

Surgery

For aesthetic purposes, Proteus syndrome may indicate for a surgical intervention. Plastic surgery may is indicated to correct the defects that may have or may impede in the daily activities of living. Removal of tumors is also necessary to avoid the possible additional growth.

Counseling

This is truly important as part of the disease process is social stigma because of the increasing size of the organs or parts of the body of the affected. Emotional support must be guaranteed to the client in order that he or she can withstand the down lows of Proteus syndrome. Educating the family and letting them understand the process of the disease is essential in order to protect the affected person from any emotional hurt.

Proteus Syndrome Pictures

Photos, Images and Pictures of Proteus Syndrome…

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