MadSci Network: Medicine

Re: Which illness did the Elephant Man have?

Date: Thu Mar 22 12:12:23 2001
Posted By: June M. Wingert , RM(NRM),Associate Scientist
Area of science: Medicine
ID: 984869837.Me

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.

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 
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 
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 

June Wingert
Associate Scientist
Lexicon Genetics

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