Amongst the many innate disorders that are severely disfiguring , Proteus Syndrome is one of the most serious I . However , it is highly rarified and only about 200 pillowcase of this upset are found to be record . The disorder was globally recognised , when the movie “ The Elephant Man ” was released in the year 1980 , made on the life of Joseph Merrick , who suffered from Proteus Syndrome . The name Proteus Syndrome is associate with the Greek god of variety , namely Proteus as it change the shape and show of the eubstance .
What is Proteus Syndrome?
Proteus Syndrome is a rare genetic disorder , induce by mutant genes . The skin , osseous tissue and tissue paper disorderliness is asymmetrical . The overgrowths that are do by Proteus Syndrome are abnormal and unusual . The various portion of the dead body produce and appear dissimilar and do not represent to each other in term of growth .
Symptoms of Proteus Syndrome
Proteus Syndrome comes with a phone number of symptoms . However , none of these are obvious one . The Proteus Syndrome patient may grow just as normal and fine as any other child during their childhood . As they grow adult , this progressive consideration formulate other problems . Usually , the areas that are affected in Proteus Syndrome are the key uneasy system , bones , fat tissue , connective tissue and hide . Various intragroup variety meat are also affected . The usual symptoms are –
These signs vary from soul to person to a with child extent .
How Many People are Affected by Proteus Syndrome?
Proteus syndrome is a very rarified disorderliness and only 200 cases are registered and reported till date . People from any racial and ethnic grouping can be affected with Proteus Syndrome . What makes it further more difficult is the diagnosis . In about less than 100 case , the patients really met the symptomatic criteria for this upset .
In many cases , it is greatly unmanageable to diagnose the patient role as there are very minimal symptoms that can be diagnosed . In fact , Proteus Syndrome is often misdiagnosed . This makes it extremely difficult to treat the Proteus Syndrome patient . It was in 1979 that the first report of this disorder was registered in the aesculapian literature .
Causes of Proteus Syndrome
genus Proteus syndrome is not have by anything . It has no impact of what the parent do before or during maternity . Even environmental conditions and exposure have nothing to do with this disorderliness . The syndrome pass off , when the AKT1 gene undergoes mutation and modification .
Pathophysiology and Mechanism of the Gene Alteration in Proteus Syndrome
Our bodies comprise of millions of cells and there is a transcript of transmissible computer code in each cadre that acts as the manual of arms for these cell . One of these gene is the AKT1 gene which is responsible for cell increment , class as well as cell destruction . In people with proteus syndrome , this AKT1 gene experiences or undergoes modification and this is what causes the disorder . Research studies have proven that the adjustment in these AKT1 genes is the causa behind this disorderliness . However , the radiation pattern of this adjustment greatly vary from somebody to somebody and has no specific convention and this is why , it is called the mosaic alteration . This alteration occurs only in some cells of the body and not in all the cellular phone and hence , the asymmetric growth is encountered .
Diagnosis of Proteus Syndrome
unnatural growth is a very soft and obvious measure of this disorder . However , to help doctors name this condition without any postponement , a list of symptomatic criteria has been prepared . This list focuses on 3 diagnostic characteristic . These are –
Diagnosis of Proteus Syndrome is carried out by means of Molecular diagnosing where the causative cistron alteration in AKT1 is identified . As the gene alteration is seldom present in the pedigree , it is therefore , imperative to execute the DNA tests on the biopsy of the affected tissues . Radiography , CT Scans for detection of skull wound , pulmonic cyst , MRI of the brain , pelvis , belly and branch are some of the other trial that can be done for proper diagnosing .
Treatment of Proteus Syndrome
There are no try on and tested therapeutic for Proteus Syndrome . The hereditary disorder can only be controlled after diagnosis of the unnatural growing as early as possible and by substance of cautionary and symptomatic treatment pick . There are however , certain precautions that need to be carry for control the skin anomaly .
Apart from the symptomatic intervention and mastery and the adoption of precautionary step , affected role could also opt for orthopaedic surgeries in an attempt to curb the speedy giantism link with the disorder . This kind of surgery becomes a necessity when this growth becomes a hindrance in the functioning of the stick , becomes a causative divisor for scoliosis or angular deformities , etc . Prevention and discussion of skeletal giantism may be achieved by mean of Epiphysiodesis . Patients undergo surgical treatment must be cautiously monitored as they are probable to be affected by deep vein thrombosis . Prophylaxis should also be considered during surgical operation so as to prevent the constitution of profligate clots .
