|MadSci Network: Medicine|
Neurofibromatosis is the name of the disease that plagued the elephant man. It is also known as von Recklinghausen . the following links will give you more information about Joseph Merrick who was also known as the Elephant Man. I have also included an article from the Key West Citizen Newspaper in florida , the article is how the same disease that caused the Elephant Man's deformities is attacking the mangrove snapper fish. http://www.zoraski ngdom.freeserve.co.uk/frame.htm http://www.elephant-house.fsnet.co.uk/ Neurofibromatosis is a multisystemic neurocutaneous disorder involving both neuroectodermal and mesenchymal derivatives. Of the eight subtypes, at least eighty-five percent are represented by Type I (von Recklinghausen or classic peripheral neurofibromatosis, with a prevalence of 1:4000 live births) and an additional ten percent by Type II (acoustic or central neurofibromatosis, with a prevalence of 1:50000 live births). Our discussion centers on the former, classic, form. Peripheral neurofibromatosis can be diagnosed in almost all affected patients within the first year of life. Systemic compromise typically develops before the age of twenty years. The expression of this disease is highly variable, even within an affected family, ranging from mild inconvenience with normal lifespan to serious and progressive manifestations leading to death as early as the perinatal period. Some of the life-threatening complications of this disorder are amenable to treatment. Therefore, alertness to the common clinical manifestations, a low index of suspicion, a thorough evaluation of potentially affected individuals and their families, close follow-up, and thoughtful genetic counseling are well warranted in this disease. Clinical Signs and Symptoms: Multisystemic involvement is common, and a variety of problems may present in childhood, including hyperpigmentation changes (classically, cafˇ-au-lait spots, as well as axillary freckling or diffuse duskiness), neurofibromas, melanocytic hamartomas of the iris (Lisch nodules), seizures and intellectual compromise, optic and acoustic involvement, intracranial and spinal tumors, an increased incidence of malignancies, osseous defects and congenital dislocations, oral pathology, endocrine disorders, autonomic involvement, gastrointestinal involvement, hypertension, and vascular anomalies. Diagnostic criteria are published by the National Neurofibromatosis Foundation. Etiology/Pathophysiology: Cellular differentiation and expression of matrix genes in type I neurofibromatosis are abnormal, with changes in the amount of type III and type IV collagen and fibronectin. The affected gene product appears to be involved in regulation of growth, development, and differentiation, but the specific mechanisms and causal relationships have not been well characterized. Pathology: Neurofibromas are typically multicellular in origin, typically composed of Schwann cells, but also containing fibroblasts, mast cells, and macrophages. The common lesion of malignant degeneration (neurofibrosarcoma) is, however, monoclonal. Vascular histologic changes in neurofibromatosis are commonly described in six types (intimal, advanced intimal, nodular-aneurysmal, periarterial, epithelioid-cell, and pericapillary). · Immunohistochemical and electron microscopic observations suggest a smooth-muscle-cell origin of proliferating spindle-shaped cells. The vasculopathic lesions produced may be separate from other lesions in neurofibromatosis, which have been associated with DDx: The differential diagnosis of neurofibromatosis is extensive, depending upon the specific manifestations of disease in the affected individual. Keywords: von RecklinhausenÕs disease, neurocutaneous disorders, hyperpigmentation, cafˇ-au-lait, neurofibroma, Lisch nodule, renovascular hypertension 1 Reeder MM, Felson B. Gamuts in Radiology. Cincinnati: Audiovisual Radiology of Cinncinati, Inc., 1975. Elephant Man Disease Stikes Snappers Key West Citizen, February 22, 1998 Tallahassee (AP) The same disease that caused the Elephant Man's deformities is attacking a tasty fish in the Florida Keys. Gray snappers, also known as mangrove snappers, are turning up with neurofibromatosis. The 3-foot fish get ugly tumors and eventually die. "This is the same thing as the Elephant Man had," said Florida State University research Robert Werner, referring to the man in Victorian England whose plight inspired the Academy Award-winning movie. No evidence suggests people can catch the disease by eating infected fish. But one look at a tumor-covered fish, researchers said, will likely convince anglers to leave it off the menu. "We can't make a recommendation on something like that but, personally, I would not eat it," said Ann Forstchen of the Department of Environmental Protection's Aquatic Health section. Werner and FSU researcher Gregg Stanton have tracked the disease in the fish. Commercially, the snappers have generated about $880,000 each of the last five years in Florida. The fish, also popular with recreational anglers, are found around estuaries, mangrove swamps and coral reefs in the Gulf of Mexico, Bermuda and the Caribbean. Researchers don't know whether the tumors are caused by pollution, rising temperatures around the Keys, genetic factors, or if this illness is spread fish to fish. The percentage of infected gray snappers found varies by area, from none in some areas to 5 percent in the Dry Tortugas. Thanks for taking the time to send in a question to the Mad Scientists Network. June Wingert Associate Scientist Lexicon Genetics Texas
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