According to Wikipedia, the precise nature of Joseph Merrick's condition (he was called John Merrick in the film) remains uncertain.
Proteus syndrome was only identified in 1979, by the American physician Michael Cohen. In 1986 he suggested, in an article published in the British Medical Journal (of which he was was a co–author) that this was the condition from which Merrick had suffered.
In 1909, the English dermatologist Frederick Charles Weber had suggested that Merrick suffered from von Recklinghausen disease (named after the German pathologist who had first described it in 1882). This diagnosis was quite popular through most of the 20th century, but Wikipedia describes it as "wrong", because café au lait spots (which are characteristic of the disease) were never observed on Merrick's body.
British teacher and Chartered Biologist Paul Spiring speculated in 2001 that Merrick may have suffered from a combination of the two syndromes (Proteus and von Recklinghausen).
A 2003 television documentary entitled The Curse of The Elephant Man (produced for the Discovery Health Channel) set out to test Spiring's theory. DNA samples were taken from a relative of Merrick (the granddaughter of his uncle), and samples of Merrick's own DNA were also tested. But all of these tests proved inconclusive.
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