What is Proteus Syndrome: Causes, Symptoms, Treatment, Pathophysiology

Amongst the many congenital disorders that are severely disfiguring, Proteus Syndrome is one of the most serious ones. However, it is extremely rare and only about 200 cases of this disorder are found to be recorded. The disorder was globally recognised, when the movie “The Elephant Man” was released in the year 1980, made on the life of Joseph Merrick, who suffered from Proteus Syndrome. The name Proteus Syndrome is associated with the Greek god of change, namely Proteus as it changes the shape and appearance of the body.

What is Proteus Syndrome?

What is Proteus Syndrome?

Proteus Syndrome is a rare genetic disorder, caused by mutant genes. The skin, bone and tissue disorder is asymmetric. The overgrowths that are caused by Proteus Syndrome are abnormal and unusual. The various parts of the body grow and appear different and do not correspond to each other in terms of growth.

Symptoms of Proteus Syndrome

Proteus Syndrome comes with a number of symptoms. However, none of these are obvious ones. The Proteus Syndrome patients may grow just as normal and fine as any other child during their childhood. As they grow adults, this progressive condition develops other problems. Usually, the areas that are affected in Proteus Syndrome are the central nervous system, bones, fatty tissue, connective tissue and skin. Various internal organs are also affected. The usual symptoms are –

  • Growths: Tumours, lesions and asymmetrical and abnormal growths on one side of the body are common in Proteus Syndrome. The abnormal growths include –
    • Disproportionate and asymmetric growth of fingers, toes and limbs
    • Abnormal vertebral growth of scoliosis
    • Hunched-over look due to disproportionate overgrowth of neck muscles
    • Rough skin
    • Overgrowth of skin fat
    • Drooping eyelids
    • Lowered nostrils.

These signs vary from person to person to a great extent.

  • Slight Pain: Since these growths stretch the body, the skin tends to dry out and due to the abnormal shape and texture of these growths, pain is almost normal and common in Proteus Syndrome.
  • Deformities: Out of place tissues and lumps can occur. The deformities start in areas where the overgrowths started occurring. Not always will these deformities lead to Proteus syndrome. Individuals can also have malformations in the blood vessels which can lead to deep vein thrombosis and also pulmonary embolism.
  • Disability: The overgrowths and deformities associated with tissues and bones can lead to disability. This disability can make a person immobile. The extent of disability varies in different periods and from person to person. In some cases, the person might also experience increased ability. The increased weight and lengthening of limbs can also lead to muscle pain and arthritis.
  • Interruption in Cognitive Functioning: In cases where the person with Proteus syndrome experiences the bones growing into the brain, a pressure into the brain is felt. Due to the pressure, cognitive functioning is interrupted and serious stress is felt. How severe and serious this would be, is not predictable. Hence, it must be prevented.
  • Increased Tumour Production: Those, who have Proteus syndrome, will experience an increased production of tumour. There are certain kinds of tumours that are quite risky for the individual and with this syndrome; those kinds of tumours can grow rapidly.

How Many People are Affected by Proteus Syndrome?

Proteus syndrome is a very rare disorder and only 200 cases are registered and reported till date. People from any racial and ethnic group can be affected with Proteus Syndrome. What makes it further more difficult is the diagnosis. In about less than 100 cases, the patients actually met the diagnostic criteria for this disorder.

In many cases, it is greatly difficult to diagnose the patients as there are very minimal symptoms that can be diagnosed. In fact, Proteus Syndrome is often misdiagnosed. This makes it highly difficult to treat the Proteus Syndrome patients. It was in 1979 that the first report of this disorder was registered in the medical literature.

Causes of Proteus Syndrome

Proteus syndrome is not caused by anything. It has no impact of what the parents do before or during pregnancy. Even environmental conditions and exposures have nothing to do with this disorder. The syndrome occurs, when the AKT1 gene undergoes mutation and alteration.

Pathophysiology and Mechanism of the Gene Alteration in Proteus Syndrome

Our bodies consist of millions of cells and there is a copy of genetic code in each cell that acts as the manual for these cells. One of these genes is the AKT1 gene which is responsible for cell growth, division as well as cell death. In people with proteus syndrome, this AKT1 gene experiences or undergoes alteration and this is what causes the disorder. Research studies have proven that the alteration in these AKT1 genes is the cause behind this disorder. However, the pattern of this alteration greatly varies from person to person and has no specific pattern and this is why, it is called the mosaic alteration. This alteration occurs only in some cells of the body and not in all the cells and hence, the asymmetric growth is encountered.

Diagnosis of Proteus Syndrome

Abnormal growth is a very easy and obvious measure of this disorder. However, to help doctors diagnose this condition without any delay, a list of diagnostic criteria has been prepared. This list focuses on 3 diagnostic characteristic. These are –

  • Sporadic Occurrence: No other member of the patient’s family will have this condition.
  • Mosaic Distribution: Only a few areas of the patient’s body will have this abnormality. Other parts will be absolutely normal.
  • Progressive course: New abnormal growth will appear and old growths will have considerable changes in the body.

Diagnosis of Proteus Syndrome is carried out by means of Molecular diagnosis where the causative gene alteration in AKT1 is identified. As the gene alteration is rarely present in the blood, it is therefore, imperative to perform the DNA tests on the biopsies of the affected tissues. Radiography, CT Scans for detection of skull lesions, pulmonary cysts, MRI of the brain, pelvis, abdomen and limbs are some of the other tests that can be done for proper diagnosis.

Treatment of Proteus Syndrome

There are no tried and tested cures for Proteus Syndrome. The genetic disorder can only be controlled after diagnosis of the abnormal growth as early as possible and by means of prophylactic and symptomatic treatment options. There are however, certain precautions that need to be taken in order to control the skin anomalies.

  • The condition of the lesions needs to be evaluated at regular intervals so as to ensure that abnormalities in the vascular tissues do not cause a problem.
  • Laser therapy can be opted for in order to remove vascular marks.
  • The lesions can also be removed by means of surgery if they serve as a hindrance in carrying out daily activities.

Apart from the symptomatic treatment and control and the adoption of precautionary steps, patients could also opt for orthopaedic surgeries in an attempt to control the rapid overgrowth associated with the disorder. This kind of surgery becomes a necessity when this growth becomes a hindrance in the functioning of the joints, becomes a causative factor for scoliosis or angular deformities, etc. Prevention and treatment of skeletal overgrowth may be achieved by means of Epiphysiodesis. Patients undergoing surgical treatment must be carefully monitored as they are likely to be affected by deep vein thrombosis. Prophylaxis should also be considered during surgery so as to prevent the formation of blood clots.

Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:April 9, 2018

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