Proteus syndrome is a very rare disorder causing uncontrolled and abnormal changes in the patient’s body. Possibility of occurrence of this disease is less than 1 in million.
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. It is accompanied by development of tumors over the entire body.
Studies 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. It 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.
This syndrome is known to be caused due to a mutation in the AKT1 gene. It is not genetically inherited from the parent. The AKT1 gene helps to regulate cell growth and division. If a mutaion occurs in this gene, the ability of the cell to regulate its own growth is hampered, thus, it grows abnormally. Increased cell division leads to abnormal growth characteristics in a person.
This is what causes Proteus syndrome. Certain reports suggest that the PTEN gene mutation can also lead to this disease, however, researchers today confirm that the PTEN gene mutation and related asymmetric growth do not lead to the aforementioned syndrome. Instead, they are believed to lead to some other growth-related disorders.
- 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 the body and skin thickening
- Abnormalities of the skull
- Vascular disorder
- Cystiform pulmonary abnormalities
- Pelvic and abdominal lipomatosis and blood clotting, which may get deposited in the lungs (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.
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 during dignosis.
General criteria involves 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, 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.
Unfortunately, no cure exists for this disorder. However, there are some drugs under trial considered to be very effective in curing this syndrome. Doctors mostly use symptom-based treatment, which can help in soothing and reducing the problems associated.
Problems Associated with the Disorder
This syndrome is not considered fatal, but other conditions associated with it may lead to a very problematic life for the patient. 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 it.
Disclaimer: This HealthHearty article is for informative purposes only, and should not be used as a replacement for expert medical advice.