Thursday, May 1, 2008

Best Post of December '07

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.


h2m said...

proteus syndrome is an inherited disorder?
The neurofibromatosis predispose the risk of getting the proteus syndrome?

Brian E. Moore, MD (middle) said...

Hi H2M:
My understanding is that Proteus Syndrome is a sporadic disorder, with only something like 500 cases known. As for neurofibromatosis predisposing someone to get Proteus Syndrome, I don't think that has been described. The Elephant Man may have just been a unique case. Thanks for reading the blog! I hope you can do a "guest post" about medical education in Moscow when you get a chance! Best, Brian.

JD said...

You've got a neurofibromatosis ad now! (Plus Tufts Medical School neurosurgery.)