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Proteus Syndrome – Causes, Symptoms, Diagnosis, Treatment

Updated on December 19, 2013

Proteus syndrome is a congenital condition characterized by atypical development of bones, overgrowth of the skin and head, and a variety of other abnormal symptoms.The condition is often accompanied by growth of tumors that cover nearly fifty percent of the body.Proteus syndrome defects are highly variable. It is one of the reasons why the condition is named after the Greek god Proteus who was able to change his shape.

The developmental anomalies that accompany Proteus syndrome can result in an overall abnormal appearance. The growth is also asymmetric wherein one side of the body may be bigger or smaller than the other side, or one hand may be wider or longer than the other.Proteus syndrome may feature various subcutaneous and cutaneous lesions, which include lipomas, vascular malformations, different kinds of nevi, and hyperpigmentation.

The lesions associated with Proteus syndrome generally occur over a course of many years. Hence, the diagnosis can get delayed till late infancy, adolescence, or even adulthood. The most difficult medical problems often arise due to the orthopedic health complications; but vascular deformities can also add to a patient’s overall morbidity. People with Proteus syndrome are also likely to suffer from lowered self-esteem and social stigmatization due to severe disfigurement.

Proteus syndrome is caused due to mosaic alterations or mutations in a specific gene called AKT1. Researchers think that such genetic changes typically happen just after conception.

Proteus syndrome is also known as ‘elephant man disease’ and ‘elattoproteus syndrome.’Proteus syndrome has no known cure. Treatment is aimed at controlling and managing the abnormal symptoms.

Symptoms of Proteus Syndrome

Some of the common signs and symptoms of Proteus syndrome are listed below:

  • The toes, fingers, limbs, and skull may elicit severe overgrowth. Such anomalous growth is imbalanced or asymmetric
  • Abnormal growth of the vertebrae increases the risk to developing scoliosis
  • The back of the head is enlarged
    • Droopy eyelids
    • A thin and long face
    • Anomalous overgrowth and wasting away of the muscles in the upper limbs and neck can result in a bent or curved overall appearance
    • The skin may be rough or have a raised appearance
      • The mouth may remain open when resting
      • The soles of the feet may feature deep lines as well anomalous growth of soft tissue
      • The nose may be upturned with wide, open nostrils. The nasal bridge is lower than normal
      • Café au lait macules may be present.
        • The lymphatic vessels may feature overgrowth leading to occurrence of vascular lesions such as port wine stains and lymphatic malformations.

Any part of the body can get affected by defects associated with Proteus syndrome. The bones and skin are however most prone to develop abnormalities. Irregular bone growth can result in several medical problems like orthopedic conditions as well as excess skin growth. The combined effects of Proteus syndrome defects can cause severe deformity and a morbid appearance, which in turn can lead to lowered self-esteem, social isolation, and other emotional and psychological problems.

Life threatening lung problems may also occur in people with Proteus syndrome. Hence, the pulmonary functions have to be monitored regularly. It is however an uncommon occurrence.

Patients of Proteus syndrome usually do not suffer from other health problems, or intelligence or mental defects. They are however at great risk to developing a blood clot condition called DVT or deep vein thrombosis. This medical complication can then lead to severe problems like pulmonary embolism.

Causes of Proteus Syndrome

Proteus syndrome does not result from hereditary causes, or due to contact with certain environmental factors at the time of pregnancy. Proteus syndrome is also not caused due to things that any one of the parents does or does not engage in.

Previously, Proteus syndrome was associated with PTEN in chromosome 10, while other studies linked it to abnormalities in chromosome 16. However, researchers from NIH have finally found that Proteus syndrome is caused due to mutations of the AKT1 gene. Such genetic changes are typically mosaic mutations, which means that errors and alterations in the genetic instructions and codes occur in only some of the cells in the body.Mosaic genetic alterations also explain the reasons behind the unique physical abnormalities associated with the condition; as to why only some regions of the body experience anomalous growth while others remain unaffected.

It may be noted that every patient of Proteus syndrome may elicit defects that are different from those experienced by other patients. Two affected persons may not suffer from same type of malformations; their signs and symptoms and other associated anomalies, as well as the treatment options are also likely to differ.

Diagnosis of Proteus Syndrome

There is a list of different characteristics that a patient of Proteus syndrome can suffer from. This list helps in fast and easy diagnosis of the condition. The list is referred to as the diagnostic criteria and is very helpful in quick and accurate detection of Proteus syndrome. Doctors arrive at a diagnosis of Proteus syndrome when the below listed features are observed:

  • Random occurrence, wherein no other family members are affected by the disorder
  • Mosaic genetic mutation, wherein only some sections or parts of the body experience abnormalities while other areas appear normal
  • Progressive degeneration, wherein the anomalous growths have resulted in severe deformation of the affected body parts, and/or appearance of new irregular growths.

When all the above listed characteristic occur along with some other specific symptoms, then the physician will diagnose the condition as Proteus syndrome. The additional abnormal characteristics are classified into three groups, i.e., A, B, and C. It is important for all the above 3 features to be present for a correct diagnosis of Proteus syndrome.

Treatment of Proteus Syndrome

There is no known cure for Proteus syndrome. The condition can be managed by early detection of the abnormal growths and the use prophylactic and symptomatic treatments. A team of specialists, including plastic surgeons, craniofacial surgeons, neurosurgeons, dental experts, geneticists, orthopedists, psychiatrists,and dermatologists will work together to control the abnormalities.

Some of the treatment options for Proteus syndrome are listed below:

  • Laser surgery and other treatments can be used to remove skin lesions and other skin abnormalities
  • Therapies for improving the functionality of body parts that elicit asymmetric growth
  • Early detection of vertebral defects and use of varied non-surgical means to halt its progression to scoliosis

DVT may be treated with medications or surgery

Proteus Syndrome Pictures


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