Elephant Man

The name “Elephant Man” was used by Englishman Joseph Carey Merrick when, in the late 1800s, he was exhibited as a human curiosity due to his severe physical deformities. His condition began to develop early in his age, starting off as tumors on the face. It quickly worsened from there though as more bulbous growths continued to grow out from his head and body, rendering his right hand and forearm useless.

As Merrick went on to earn a living through exhibiting himself in various sideshows, his condition was explained by a promoter as having been caused due to his mother getting trampled by an elephant while pregnant. Over a century after his death, scientists believe they have finally identified the actual genetic cause behind Merrick’s hideous disfigurement.

An early belief among the scientific community was that Merrick suffered from elephantiasis, a disorder of the lymphatic system, that also causes swelling in various parts of the body. Later on, it was postulated that an extremely severe form of neurofibromatosis might have been to blame instead.

In 1979, a much more rare disease named Proteus Syndrome – named for the shape-shifting Greek sea god – was discovered. X-rays and CAT scans produced at the Royal London Hospital, where Merrick’s remains have been kept, were later used to establish this extremely rare disorder as the culprit behind Merrick’s deformity.

As for the underlying genetic reasons for the disorder, researchers believe they have finally identified the mutation that causes the condition suffered by Merrick. These findings, which were published in the July 27, 2011 edition of the New England Journal of Medicine, cast further light upon this mysterious disorder of which only 500 cases have been reported in the developed world.

The mutation, while genetic, is not inherited. It occurs spontaneously some time after the formation of the embryo, which accounts for the great degree of variation in the condition.  This is due to the understanding of the condition as a “mosaic disorder” in which the person has a mix of both normal and mutated cells.

This means that the condition may be set off by a spontaneous mutation that only occurs in one cell early in the development stage. The earlier this mutation occurs in the embryo, the more widespread the overgrowth in tissue and bones it is expected to cause.

To corroborate these findings, the research team is collaborating with the Royal London Hospital to test Merrick’s skeleton for the mutation.  The discoveries made by the team thus far should not only help doctors in diagnosing suspected Proteus cases, but could also lead to better treatments for those suffering from the condition.