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  • Joseph Carey Merrick, known as the Elephant Man, was originally diagnosed as having Elephantiasis--which has since been discredited. While the symptoms of "Elephant Man" disease have prompted many diagnoses over the years, all diagnoses remain in dispute at present.

    Symptoms of the Elephant Man

    When Merrick was a child, skin growths began to appear that were dark, discolored, rough and bumpy; lumps and tumors began to form under the skin, particularly on his neck, chest and the back of his head, according to a Wiley Interscience article on Diagnosing the Elephant Man.

    Later Symptoms

    By the time he was 12, according to the same article, there were hypergrowths on the right side of his head and on his right hand and arm, so he could not use his hand. Eventually, the bones of his face were distorted by the growths on his head; a fleshy tumor near his nose also grew, prompting the name "The Elephant Man."

    What the Symptoms Indicate

    The symptoms of "Elephant Man" disease, according to the Proteus Syndrome Foundation website, indicate possible Neurofibromatosis Type I (NF-1) or Proteus Syndrome. Merrick had symptoms of both NF-I and Proteus Syndrome, making a posthumous diagnosis difficult.

    Neurofibromatosis Type I

    Neurofibromatosis Type I (NF-I), also known as von Recklinghausen Disease, is a progressive inherited disease, according to a Genetics Home Reference on Neurofibromatosis. Symptoms include flat pale-brown skin lesions; pigmented birthmarks; soft tissue abnormalities; and tumors of the head, eye, spine and central nervous system.

    Proteus Syndrome

    First identified in 1979 by Dr. Michael Cohen Jr., DMD, PhD, Proteus Syndrome is a genetic condition characterized by symptoms that include atypical growth of bones, skin and head, formation of benign tumors, raised rough skin and gigantism of the limbs, according to the Proteus Syndrome Foundation website.

    Source:

    ghr.nlm.nih.gov: Genetics Home Reference: Neurofibromatosis Type I

    emedicine.medscape.com: Proteus Syndrome

    proteus-syndrome.org: Proteus Syndrome Foundation

    More Information:

    interscience.wiley.com: Diagnosing the Elephant Man

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