Proteus Syndrome

Proteus syndrome is an uncommon state of abnormal growth. The developmental abnormalities associated with this syndrome can lead to unusual look and overgrowth of different parts of the body. The growth is not symmetric, which means that the parallel parts of the body are not of the corresponding length of the other. For instance, one hand may be longer or wider than the other.

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The syndrome is caused due to mutations or mosaic changes in a gene known as AKT1. It is believed that such genetic errors occur shortly after conception. The different bodily defects can be noticed and diagnosed during later toddler-hood or early childhood. The accompanying symptoms begin to appear at this age, which is quite late. Proteus syndrome is also referred to as ‘elattoproteus syndrome’ and ‘elephant man disease.’


Some of the symptoms of proteus syndrome include:

  • Overgrowth of fingers, toes, skull, and limbs.Abnormal growth is mostly not proportionate or symmetric.
  • Enlarged back of the head
  • Scoliosis due to abnormal vertebral growth
  • Drooping eyelids
  • Abnormal overgrowth and wasting away of the upper limb muscles and neck, giving a curved or bent look
  • Long and thin face
  • Raised or even rough skin
  • Abnormal growth of soft tissue on the soles of the feet and deep lines
  • Open mouth when resting
  • Low nasal bridge with open, reversed nostrils
  • Overgrowth of lymphatic vessels that can produce vascular lesions like lymphatic malformation and port wine stains
  • Presence of café au lait macules

Any portion of the body can be affected by Proteus syndrome.However, it mostly affects the skin and bones.Abnormal growth of bone may lead to many problems such as anomalous growth of skin, and orthopedic diseases.All these cause concern about the look and can result in low self-esteem.

Some other uncommon problems associated with lungs may also occur, which has to be monitored properly.

People suffering from this syndrome have good health and mental power, but have a high chance of getting a blood clot known as ‘deep vein thrombosis’ or DVT. This leads to severe issues such as pulmonary embolism. It is very important that medical experts taking care of such patients should be alerted of this possibility.


Proteus syndrome is neither caused due to exposure to environmental factors during pregnancy, nor any hereditary reason. It does not arise due to things that either parent does or does not do.

Research reports from NIH indicate that Proteus syndrome is caused due to changes in a gene known as AKT1. Such changes can be mosaic alterations, errors, etc. A ‘mosaic gene alteration’ means change in the varied codes and instructions occurring in genes which affects only some cells in the body, and not all.

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Experts analyzing this syndrome have come to the conclusion that alterations in the genetic code of Proteus syndrome patients are usually mosaic mutations. This is because the syndrome tends to affectonly some parts of the body, and not the entire body. Only certain areas appear abnormal, whereas other parts of the body do not elicit any anomalies.

It is necessary to keep in mind that each person affected by Proteus syndrome experiences defects that can be different from the symptoms elicited by other patients. Two affected individuals may not have similar malformations, and their conditions, signs and symptoms, and treatments will also vary from each other.


Medical experts have a list of various features exhibited by a person suffering from Proteus syndrome. This helps in easy detection of the abnormal growth. This type of list is known as the diagnostic criteria and it aids doctors in fast and accurate diagnosis of the syndrome. There are 3 common features which assist physicians in diagnosis of Proteus syndrome, as listed below:

  • Sporadic occurrence; in this no member of the family is suffering from the same abnormal condition.
  • Mosaic distribution; in this only few areas are affected by abnormal growth whereas other parts of the body appear to be normal.
  • Progressive course; in this the abnormal growth has changed the affected parts of the body considerably and/or fresh abnormal growth is appearing.

If all the above given features are noticed in a person including few other special features, then the doctor can diagnose it as Proteus syndrome. The additional peculiar features are set into 3 categories namely A, B, and C. To detect Proteus syndrome all the three common characteristics are required to be present in a person.


There is no known cure for Proteus syndrome. It can be controlled by diagnosing the abnormal growth as soon as possible and using symptomatic and prophylactic treatments. A group of medical experts are needed to control this syndrome. This comprises of plastic surgeon, neurosurgeon, psychiatrist, dental expert, orthopedist, craniofacial surgeon, geneticist, and skin specialist.

To control and manage the accompanying skin anomalies, following precautions can be taken:

  • Periodically evaluating the condition of lesion, so as to make certain that vascular abnormality and lipomas do not cause problems.
  • Removal of lesions through surgeries in case it interferes with carrying out daily functions, or for cosmetic reasons.
  • Elimination of vascular markings through laser therapy.
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