Proteus syndrome

Joseph Merrick, 'The Elephant Man' is probably the most famous case of this syndrome. The disease causes bone growth and skin with excessive frequent incidence of tumors. Only 200 cases have been confirmed worldwide since the disease was officially discovered in 1979. Who suffers from this disease have normal mental function and capacity.
Genetic profile
The specific cause of Proteus syndrome is clear. Proteus syndrome appears to occur at random, suggesting that it is not inherited. Research suggests that the results of a Proteus syndrome is that an unknown gene that is altered (mutant) in some cells, but in other normal body cells. This is called mosaicism.
Organs and tissues that are affected in Proteus syndrome and severity of the effects probably depends on how many cells contain the mutated gene, and what kind of cells they contain. Someone with many cells containing the altered gene Proteus are more likely to have more serious effects. Someone with lots of altered cells in a particular part of the body, like the hand, are more likely to have excess growth in this area.
The Proteus altered gene will affect cell growth, even after the baby is fully developed, since cell division continues to occur and is necessary for the growth of tissues and organs to replace damaged cells. The altered gene Proteus mainly results from excessive growth of cells and tissues, from early childhood through adolescence.
Effects
Individuals with Proteus syndrome can have a variety of manifestations. The effects can also vary from mild to severe. The most common manifestations of Proteus syndrome include:
* Excessive growth on one side of the limbs, face or body (hemihypertrophy) * Increased tissue on the soles of the feet or palms of hands or, less commonly, the abdomen or nose (connective tissue nevi) * Dark, colorless and often rough spots and skin (skin surface moles) * Benign tumors on the skin surface and under the skin * Benign tumors of fat cells (lipoma), or areas of reduced or increased body fat * abnormalities of the skull, resulting in a large or asymmetrical head * Growths Benign bone sticking out of the end of the bone (exostosis)