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Message: <blockquote data-quote="Ms Southworth" data-source="post: 33793" data-attributes="member: 312">Neurofibromatosis is not made up by the people behind Dallas. It is the condition that "The Elephant Man" had! He lived in England in the late 1800's. I saw a black and white movie about his life many years ago.I found a description of the history of Neurofibromatosis on-line:History/Discovery of NF1 (2) In 1882, Dr. Fredrick von Recklinghausen made the first description of NF1. He published two case reports called " On Multiple Neurofibromas of the Skin and their Relationship to Multiple Neuromas." He correctly identified the pathology of the cutaneous and subcutaneous tumors and conjured up the term "neurofibroma." From this time, the condition was called von Recklinghausen's Disease. (1) It wasn't until 1900 that Thompson discovered the genetic nature of the disorder, demonstrating that the disease was familial in 30/77 reported cases. In 1918, Preiser and Davenport proposed the disease was caused by autosomal dominant inheritance. (3) From the end of the 19th century, a lot of case reports of NF1 appeared in medical literature. The first large, and reasonably accurate surveys of the disease appeared in the 1950's. These studies; however, failed to distinguish between the different forms of Neurofibromatosis. Interest in NF1 was sparked through John Hurt's portrayal of Joseph Merrick in the film "The Elephant Man". (4) Joseph Merrick was a severely disfigured man who lived during the 1800's. People were morbidly fascinated by his grotesque looks . In 1971, based on medical knowledge available to him at the time, Ashley Montagu suggested a connection with NF1 in his book , The Elephant Man. The impact this book had on families with NF1 was immense. Later, it was figured that the disease Merrick had was actually " Proteus Syndrome", which is very similar to NF1. picture Girl with Proteus Syndrome (5) Confusion of the two diseases still exist. Detailed research into this disease has increased in the past 15 years. In 1987, the diagnostics for NF1 & NF2 were proposed, enabling better differentiation between the two of them. IN 1990, the NF1 gene was cloned and its gene product, neurofibromin, was discovered.</blockquote>

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