Joseph Merrick - Medical Condition

Medical Condition

Ever since Joseph Merrick's days as a novelty exhibit on Whitechapel Road, his condition has been a source of curiosity for medical professionals. His appearance at the meeting of the Pathological Society of London in 1884 drew interest from the doctors present, but none of the answers nor the attention that Treves had hoped for. The case received only a brief mention in the British Medical Journal and the Lancet declined to mention it at all. Four months later, in 1885, Treves brought the case before the meeting for a second time. By then, Tom Norman's shop on Whitechapel Road had been closed, and the Elephant Man had moved on. Without Merrick, Treves made do with the photographs he had taken during his examinations. One of the doctors present at the meeting was Henry Radcliffe Crocker, a dermatologist who was an authority on skin diseases. After hearing Treves' description of Merrick, and viewing the photographs, Crocker proposed that Merrick's condition might be a combination of dermatolysis, pachydermatocele and an unnamed bone deformity, all caused by changes in the nervous system. Crocker wrote about Merrick's case in his 1888 book Diseases of the Skin: their Description, Pathology, Diagnosis and Treatment.

In 1909, dermatologist Frederick Parkes Weber wrote an article about von Recklinghausen disease (now known as neurofibromatosis type I) in the British Journal of Dermatology. He gave Merrick as an example of the disease, which German pathologist Friedrich Daniel von Recklinghausen had described in 1882. Symptoms of this genetic disorder include tumours of the nervous tissue and bones, and small warty growths on the skin. One characteristic of neurofibromatosis is the presence of light brown pigmentation on the skin called café au lait spots. These were never observed on Merrick's body. Neurofibromatosis type I was the accepted diagnosis through most of the 20th century, although other suggestions included Maffucci syndrome and polyostotic fibrous dysplasia (Albright's disease).

In a 1986 article in the British Medical Journal, Michael Cohen and J. A. R. Tibbles put forward the theory that Merrick had suffered from Proteus syndrome, a congenital disorder identified by Cohen in 1979. They cited Merrick's lack of reported café au lait spots and the absence of any histological proof that he had suffered from neurofibromatosis type I. Unlike neurofibromatosis, Proteus syndrome affects tissue other than nerves, and it is a sporadic disorder rather than a genetically transmitted disease. Cohen and Tibbles said that Merrick showed the following signs of Proteus syndrome: "macrocephaly; hyperostosis of the skull; hypertrophy of long bones; and thickened skin and subcutaneous tissues, particularly of the hands and feet, including plantar hyperplasia, lipomas, and other unspecified subcutaneous masses."

In a letter to Biologist in June 2001, British teacher Paul Spiring speculated that Merrick might have suffered from a combination of neurofibromatosis type I and Proteus syndrome. This hypothesis was reported by Robert Matthews, a correspondent for The Sunday Telegraph. The possibility that Merrick had both conditions formed the basis for a 2003 documentary film entitled The Curse of The Elephant Man that was produced for the Discovery Health Channel by Natural History New Zealand. During 2002, genealogical research for the film led to a BBC appeal to trace Merrick's maternal family line. In response to the appeal, a Leicester resident named Pat Selby was discovered to be the granddaughter of Merrick's uncle George Potterton. A research team took DNA samples from Selby in an unsuccessful attempt to diagnose Merrick's condition. During 2003, the filmmakers commissioned further diagnostic tests using DNA that was extracted from Merrick's hair and bone. However, the results of these tests proved inconclusive and therefore the precise cause of Merrick's medical condition remains unknown.