Proteus Syndrome - Causes, Symptoms and Treatments

What is Proteus syndrome?
Have you ever seen a person with abnormally developed hands or legs, skin carrying huge lumps of meat all over the body including the face? Believe me, it’s a very scary sight. Unfortunately, it’s a cruel joke by Mother Nature on those who live with such a condition. Proteus syndrome is a very rare but complex medical condition (hamartomatous disorder) characterized by uncontrolled and abnormal skin overgrowth and atypical bone development. As mentioned earlier, it is accompanied by development of tumors over the entire body.

Studies till now have shown that this disease may not be related to inheritance and can occur in people of any race, sex, living in any geographical area on earth. Proteus syndrome was initially confused with some other disorders such as neurofibromatosis, Maffucci’s syndrome, Klippel-Trenaunay-Weber syndrome and Von Recklinghausen disease. Children born with no deformity or abnormality may develop this disorder as they grow.

What are the symptoms of Proteus syndrome?
The symptoms of proteus syndrome include partial gigantism of hands and/or legs or disproportionate growth and asymmetry of half body, nevi (connective tissue nevi and epidermal nevi), cutaneous and sub-cutaneous tumors on body and skin thickening, hemihypertrophy, abnormalities of skull, vascular disorder, macrodactyly, abnormalities of cystiform pulmonary, pelvic and abdominal lipomatosis and blood clotting which may get deposited in the lungs, and can be life threatening for the patient. During the initial years, the patient experiences uncontrolled and accelerated growth of masses on the body. Local/surface growth of lipomas as well as internal fat growth are prominent symptoms of this disorder.

How is Proteus syndrome diagnosed?
Physical examination, biopsy of tissues, blood test, medical imaging such as CT scan, MRI scan and Ultrasound etc. are used to diagnose this disorder.

There are general and specific criteria used to diagnose this syndrome. General criteria of this syndrome involve physical distortion/disproportion, progressive course and sporadic occurrences (these are mandatory criteria and existence of all three conditions under general criteria helps to diagnose the disorder).

In order to completely diagnose the disorder, any of the specified criteria (special clinical symptoms) should be identified. These special symptoms are: connective tissue nevi, which is a common symptom in all the occurrences of this disorder in different people, existence/identification of anyone/combination of the following symptoms: dysregulated adipose tissue that includes lipomas and regional absence of fat, development of epidermal nevus, disproportionate overgrowth of limbs, skull, vertebrae and/or viscera, vascular malformations and facial phenotype.

Treatments available:
Unfortunately, no cure exists for this disorder. However, there are some drugs under trial considered to be very effective and help in curing this syndrome. Doctors mostly use symptom based treatment which can help in soothing and reducing the problems associated with the disorder.

Problems associated with Proteus disorder:
Proteus syndrome is not considered fatal but other conditions associated with this disorder may lead to a very problematic life for the person suffering from this syndrome. A patient’s nervous system may get affected due to overgrowth of the tissues, blood, and disproportionate changes in body and they may become sluggish, in some cases it may affect their learning ability (in cases such as skull disproportion). As this disorder is exceedingly rare, it makes it hard to find out how many other types of disorders/medical problems are associated with this syndrome.