Thursday, March 19, 2009
PROTEUS SYNDROME
Named after the sea-god Proteus, Proteus syndrome is an extremely rare (200 cases since the disease was isolated in 1979) hereditary disorder that causes uncontrolled growth of bones, muscles, tissues, skin and lymphatic vessels leading to severe disfigurement as the disease progresses.
Victims of Proteus Syndrome are born with a completely normal appearance but as they grow older growths of skin and bone begin to alter their appearance and cause health complications.
Affected individuals may die early due to complications from extraneous tissue and bone growth. Sometimes, the very mass of the tumors can end their lives. For instance, the most famous Proteus Syndrome case, Joseph Merrick (The Elephant Man), died when the weight of his head broke his neck while he was sleeping.
Scientists are still trying to figure out what causes Proteus Syndrome, but there is some evidence that it is linked to the PTEN gene on either chromosome 10 or chromosome 16.
There is no prescribed treatment, but there has been some success treating the illness with Rapamycin.
Due to the horrible disfigurement this disease causes and the fact that it often leads to early death, I give this sick a
4 on my lethality scale (1-10)
and a 10 on my disturbing scale (1-10)
Labels:
congenital,
disease,
elephant man,
elephantitis,
health,
hereditary,
mortality,
proteus,
proteus syndrome,
sick du jour,
sickness
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