Definition

What is Proteus syndrome?

Proteus syndrome is characterized by excessive growth of a part or portion of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently.

How common is Proteus syndrome?

Proteus syndrome is an extremely rare disorder. Approximately 200 patients have been reported in the medical literature and it seems to affect people of all ethnic and racial groups. However, researchers with extensive experience in Proteus syndrome reviewed these cases and determined that just fewer than 100 met the stringent diagnostic criteria for Proteus syndrome.

Because the diagnosis of Proteus syndrome is so difficult some people may go undiagnosed, while others may be incorrectly diagnosed with Proteus syndrome. Therefore, it is extremely difficult to determine the true frequency of this disorder in the general population.

Proteus syndrome affects males slightly more often than females. It was first reported in the medical literature in 1979.

Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Proteus syndrome?

Newborns with Proteus syndrome have few or no signs of the disorder. Overgrowth becomes apparent between the ages of 6 and 18 months and becomes more severe with age. It may result in differences in appearance and with time, an increased risk for blood clots and tumors. Some people with Proteus syndrome have neurological abnormalities, including intellectual disability, seizures, and vision loss, as well as distinctive facial features.

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 common symptoms of Proteus syndrome 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

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. 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. The pressure can lead to interrupted cognitive functioning and serious stress.

Increased tumour production: Those, who have Proteus syndrome, will experience an increased production of tumour. The tumors can be quite dangerous grow rapidly.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or you have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Proteus syndrome?

Proteus syndrome is caused by mutations in the AKT1 gene. These mutations are not inherited from a parent, but arise randomly in one cell during the early stages of development before birth.

As cells continue to grow and divide, some cells will have the mutation and others will not. Therefore, people with Proteus syndrome have an altered AKT1 gene only in some of their cells. This mixture of cells with and without a genetic mutation is known as mosaicism.

The AKT1 gene codes a protein that helps regulate cell growth and division (proliferation) and cell death. A mutation in this gene disrupts a cell’s ability to regulate its own growth, allowing it to grow and divide abnormally. The mutated gene makes an abnormal protein. The mutation in the AKT1 gene is known as “c. 49G>A, p.Glu17Lys,” and it is a type of an “activating mutation.”  This means that the AKT1 gene has a “spelling error” that causes an abnormally active protein to be made in the body. This active protein is thought to increase rates of cell growth and may prevent cells from dying off when they naturally would. Increased cell proliferation in various tissues and organs leads to the abnormal growth characteristics and to an increased risk to develop tumors.

Risk factors

What increases my risk for Proteus syndrome?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Proteus syndrome diagnosed?

Abnormal growth is a very easy and obvious to detect. 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.

How is Proteus syndrome treated?

The treatment of Proteus is directed toward the specific symptoms that are apparent in each individual.

Multiple orthopedic procedures are usually necessary to try and control the rapid overgrowth associated with Proteus syndrome.

Surgery may be necessary when overgrowth interferes with joint function or causes scoliosis or angular deformities. Surgery to reduce overgrown tissues or body parts may be indicated. Epiphysiodesis (removal or ablation of growth plates in bones) may be especially useful to prevent or treat the skeletal overgrowth of Proteus syndrome.

Patients with Proteus syndrome undergoing surgical procedures must be closely monitored because surgery may predispose affected individuals to deep vein thrombosis. When undergoing surgery, affected individuals should be considered for prophylaxis to prevent blood clots (antithrombotic prophylaxis) or treatment for blood clots once they develop.

Genetic counseling may be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Proteus syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 5, 2018 | Last Modified: February 5, 2018

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