Joseph Cary Merrick, better known as the Elephant Man,
probably suffered from an unusual disfiguring disease–but not
the one bearing his nickname. X-ray studies and
three-dimensional computed tomography scans of the
skeletal remains of Victorian England’s celebrity back a
theory that he suffered from an extremely rare disorder called
Proteus syndrome, scientists announced today in Chicago at
the annual meeting of the Radiological Society of North
America.


For years, it was assumed that Merrick suffered from
neurofibromatosis, which is still commonly called Elephant
Man disease. People with mild forms of this genetic disorder,
which occurs in about one of 4000 births, sometimes have
brownish spots on their faces or bodies–which Merrick did
not have. However, he did have the disfigurement, caused by
nervous system tumors, seen in people with the severe form
of the disease.

Recently, however, some physicians have speculated that
Merrick suffered from the far more rare Proteus syndrome,
of which only 100 cases have been reported worldwide. The
noninherited disease, first identified just 20 years ago, is
triggered by proliferating cells that cause abnormal bone
growth in the skull and in some body tissues.

A group led by Amita Sharma of the Royal London
Hospital was given access to Merrick’s skeletal remains,
which have been kept at the hospital since his death in 1890.
“We saw a combination of symptoms mainly on the right side
of the body,” says Sharma, including increased bone density,
an enlarged skull, and multiple bony outgrowths. Sharma
acknowledges that her study won’t lay to rest the notion, still
held by some scientists, that Merrick suffered from
neurofibromatosis. However, she says, “our findings support
the theory of Proteus syndrome.”