Proteus Syndrome

Proteus Syndrome Proteus syndrome is a rare disorder that affects the normal growth of the bones progressively. It causes abnormal growth of the skin adipose and central nervous system. The baby with Proteus syndrome would have normal bone growth during birth but when it reaches 1 year or 2 the bones of hands and feet would grow abnormal in size. It would have unequal growth of bones in his hands or feet. The growth of skeleton can be mild or very severe progressing as the child grows.

In addition to the abnormal growth of skeleton, some of the organs and tissues can grow disproportionately. The overall growth of the bones may not he symmetric on right and left sides of the body causing distorted and bizarre shape. However Proteus syndrome is a very rare disorder affecting 1 out of million births.

Symptoms :

There are 3 categories of symptoms for the child with Proteus syndrome. The disease would progress over time and it would be sporadic (random or erratic) in occurrence. There would be mosaic distribution pattern in the body.

• First Category :

There would be cerebriform connective tissue nevus. It is nothing but abnormal growth of skin that develops as a raised thick lesion on the body. It is seen on the feet of the child.

• Second Category :

There would be asymmetric or dissimilar growth on the limbs or skull or auditory canal and there can be tumors in specific parts during the first 3 years of the child.

• Category 3 :

It can cause lung bullea and vascular malformations in capillary or venous or lymphatic system. Blood vessels may grow abnormally in size in some parts with extra fat deposits called adipose tissue.

The child may develop deep vein thrombosis or pulmonary embolism (swelling of lungs) in future. A child would have combination of 2 categories for the minimum. Some children may develop neurological issues like seizures and low intelligence as they grow due to Proteus syndrome. And there is no evidence to prove that the second child would develop Proteus syndrome, if you have already one child with this disorder.

Causes :

Mosaic alteration is the causative factor for Proteus syndrome. The gene AKT1 undergoes mutation causing changes in the genetic code. Parents of the affected child would have normal genes and chromosomes and this disorder is not caused during pregnancy or any other factor.

Every cell in the body has its own copy of genes. During genetic or mosaic alteration some of the genetic codes remain changed and others are not. This leads to asymmetric growth of bone size in different parts of the body. In other words, some parts of the body would remain normal and others would be abnormal. And interestingly, Proteus syndrome will not cause similar abnormality in all the affected individuals.

AKT1 gene is responsible for causing this syndrome. During the early stages of development inside the mother’s womb AKT1 gene undergoes random mutation. During cell division some of the cells would undergo mutation and others do not. This is known as mosaic distribution (random) of problematic genes in the body. Again this particular AKT1 gene is responsible for cell division and cell death. But this specific gene undergoes repeated mutation and division accumulating on the dead cells causing fatty deposits.

Diagnosis :

Proteus syndrome can be identified by looking at the following 3 criteria in the affected child.

 There should be mosaic distribution in the body, meaning the growth would be normal in some parts and abnormal in other parts.

Sporadic occurrence would be there in the body indicating this overgrowth is random or erratic. Father and mother would not have such abnormality or no other sister/brother would have similar growth in the family.

The child would appear normal during birth and overgrowth would be progressive. The body parts would overgrow as the child grows and one can find new areas of the body appears to be overgrown. Excess of growth progresses over time.

A child having all the 3 features given above is considered to have Proteus syndrome.

Images, Pics, Photos and Pictures of Proteus Syndrome :

Treatment :

• Treatment of Proteus syndrome requires expertise from various fields of medical discipline.


• The disorder cannot be cured and treated fully but the overgrowth can be prevented further by medical intervention.


• In most of the cases, surgery is needed to amputate the overgrown bones in the hands or feet.


• Any abnormal growth of lesions on the skin can be treated by cryotherapy.


• Orthopedic surgery can be done to stop the overgrowth of bones. Skin doctor is consulted to treat dermatological infections and lesions overgrowth on the body.


• Physiotherapy is given for children having mobility problems. Physiotherapy is effective for the child that has irregular size of hands or fingers. The child having asymmetric growth of foot can wear specially designed footwear.


• For children or adults having lung infections, pulmonologist is to be consulted.


• Prolonged medical care and regular checkups are needed until complete repair has been done.


• Generally prognosis of children affected with Proteus syndrome is good but if the symptoms are very severe not much repair can be done.