Health knowledge made personal
Join this community!
› Share page:
Go
Search posts:

Best Post of December '07

Posted Aug 24 2008 5:24pm
This post was an answer to a quiz question posed on the previous day:



From what disease did "the Elephant Man" suffer?



Joseph Merrick was originally thought to be suffering from neurofibromatosis type I, a genetic disorder also known as von Recklinghausen's disease. However, it was postulated in 1986 that Merrick actually suffered from Proteus syndrome (a condition which had been identified by Michael Cohen seven years earlier). Unlike neurofibromatosis, Proteus syndrome (named for the shape-shifting god Proteus) affects tissue other than nerves, and is a sporadic rather than familially transmitted disorder. In July 2003, Dr. Charis Eng announced that as a result of DNA tests on samples of Merrick's hair and bone, she had determined that Merrick certainly suffered Proteus syndrome, and may have had neurofibromatosis type I as well. (The above information is adapted from the wikipedia article. But citations are provided.)



The clinical manifestations of Proteus syndrome are, as the name implies, protean. They include: partial gigantism of hands or feet; hemihypertrophy; subcutaneous lipomas; multiple nevi; areas of thickened skin and subcutaneous tissue; macrocephaly; skull anomalies; and accelerated growth in long bones. Mentation can be normal or retarded.
Post a comment
Write a comment: