Proteus syndrome is a congenital disorder which results in the atypical development of the bones and excessive growth of skin, muscles, blood and lymphatic vessels, and fatty tissues. This very complex and progressive condition is also known as Wiedemann’s syndrome, and some of the main symptoms are vascular malformation, lipoma, cutaneous and subcutaneous lesions, hyperpigmentation and mental retardation. Tumors make up over half of the body very frequently follow these symptoms. The deformity is more than visible in such cases, and it is often the reason why people who suffer from this disorder are socially inactive, isolated and withdrawn from the public.
Proteus syndrome is a very rare disorder, and according to the statistics, only about 200 cases have been reported since it has been diagnosed, or, more precisely over the last 30 years. Speaking of statistics, regardless of racial or ethnic differences, males are practically twice as more affected than females. As for the cause, even though it is related to the genetic mutation, the real cause is still unknown. The diagnosis is possible very soon after the moment of the conception, even though it is a fact that the majority of the children with this syndrome are born without a single visible deformity. The visible symptoms usually appear later in childhood.
It is possible to treat some of the symptoms, and it means that different kinds of surgeries (craniofacial, orthopedic, plastic, neurosurgery and others) can help in fixing a significant number of deformities, but the great majority of the surgeries are very complex, and some of them can even be life-threatening. With or without surgeries, there are many complications which are possible and not a small number of them may lead to the premature death. Some of such complications are scoliosis, macrocephaly, cranial or auditory canal hyperostosis, connective tissue nevi, vascular malformations, deep vein thrombosis, so the attention should be paid to the first symptoms, and they should not be neglected or simply attributed to the condition.
However, the exact cure for it has not been found yet. Research is constantly being done, and a team of the doctors from Australia believes to have found an effective cure, but officially, it has not been approved yet. One more important thing related to Proteus syndrome is the fact that people who carry this gene can transmit it to their children, and there is a 50 % chance for something like that to happen, which is why it is important to consult a geneticist.
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