The irony of neurofibromatosis, or elephant man's disease, as it is widely known, is that the Elephant Man may not have even had it.
John Merrick, who lived in London in the late 1800s, was called the Elephant Man because of the tumors that distorted his body and made his face grotesque. Taken under the wing of a doctor and a London actress, he is known today through a play and film that show that a beautiful and sensitive inner person can lie beneath a hideous exterior.
But modern scientists think it is just as likely that John Merrick had Proteus syndrome, a condition that is similar to neurofibromatosis but much more disfiguring.
"Most people with NF are not that severely disfigured, although some are," said Dr. Karen Hofman, a Johns Hopkins pediatric geneticist who treats NF patients. "The majority of people with NF live quite normal lives, and some never know they have it."
Symptoms of the disorder vary from the mild to the severe. The most common indicators are circles under the eyes and armpits, cafe-au-lait spots on the skin, lumps and bumps under the skin, learning disabilities and brain disorders. It is a genetic disorder, and a parent carrying the gene has a 50-50 chance of passing it on to offspring. Studies indicate, however, that about half of NF cases have no family history and appear because of a mutated gene.
There is no cure for neurofibromatosis. Treatment is for symptoms as they appear. Surgery is often successful to remove the tumors, but tumors frequently recur. When the tumors occur on vital organs, it can be fatal, but life expectancy for NF patients "is an individual thing," Dr. Hofman said.
"A major concern about NF is that not enough people know about it," she added. "A lot of people are going undetected and passing on the condition."
Public education is one of the main goals of Neurofibromatosis Inc., a national organization that also provides support for NF patients and their families, medical referral and support for research.
"The public perception of this disorder is that it is a very frightening thing," said Mary Ann Wilson, administrative director of the mid-Atlantic chapter of Neurofibromatosis Inc.
Ms. Wilson, whose 20-year-old son has a mild form of NF that has never required medical treatment, explained, "People think it's contagious, which it definitely is not. They hear tumor, and they think cancer, although NF tumors are rarely malignant. And they think disfigurement."
"There are two views of 'The Elephant Man.' The guy really is quite heroic, [and it] shows how people with NF can overcome the odds against them," Dr. Hofman said.
"On the other hand, it is certainly misleading in terms of people being repulsed by this condition."
To contact the mid-Atlantic chapter of Neurofibromatosis Inc., write 3401 Woodridge Court, Mitchellville, Md. 20721, or call (301) 577-8984.