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Proteus syndrome is a rare congenital condition causing abnormal growth of skin, bone, and fatty tissue. It is unique to each patient and can manifest in a variety of ways. Treatment focuses on managing symptoms, such as removing tumors and using surgical techniques to deal with abnormal growth.
Proteus syndrome is an extremely rare congenital condition that causes abnormal growth of skin, bone, and fatty tissue. Fewer than 200 people worldwide are estimated to be alive at any given time with the condition, although it is possible that more cases go undiagnosed because the symptoms are too mild. This condition is thought to be a type of genetic mosaicism, a condition caused by the development of abnormalities in certain cells of the body, and this explains why Proteus syndrome is unique to each patient, presenting in a wide variety of ways.
One famous Proteus syndrome sufferer was Joseph Merrick, also known as the Elephant Man. His case of the condition was extremely severe and manifested itself in the form of twisted and gnarled bones, skin growths, and large tumors. Many patients with Proteus syndrome develop tumors associated with the condition, along with circulatory problems related to venous malformations. In some cases, the malformation of the blood vessels can lead to serious injury or death of the patient.
This condition was first classified and described in 1979 by Dr. Michael Cohen. It is named after the Greek god Proteus, who was able to shapeshift, to reflect the gradual physical changes that occur in Proteus’ patients. Typically, the patient begins physically normal, and then develops abnormally, showing asymmetric growth that can manifest in a variety of ways, from bone growths to the development of skin flaps.
The severity of Proteus syndrome is quite varied. Some patients are only mildly afflicted and able to live relatively normal lives, while others experience severe pain and health problems due to the changes in their bodies. Diagnosis of the condition typically follows a careful evaluation of the patient that rules out any other potential cause of the condition; because it is associated with mosaicism, Proteus Syndrome cannot always be diagnosed through genetic testing, as some cells in the body will be normal, while others will be mutated.
Proteus syndrome has no cure, but it can be treated. Management of the condition primarily focuses on addressing the symptoms of the disorder. Tumors, for example, will be removed and surgical techniques can be used to deal with the abnormal growth of bone and skin. Some patients also take medications to reduce the pain associated with the condition and to treat inflammation and infections that can arise from Proteus syndrome.
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