New research indicates there are at least two major forms of so-called Elephant Man's disease and that the inherited condition is seldom as severely disfiguring as most people think, a panel of experts said last week.
The specialists, convened by the National Institutes of Health to assess what is known about neurofibromatosis, said the common genetic disorder remains incurable.
However, the panel said, surgery and other treatments can reduce the physical symptoms of the condition, and early diagnosis and counseling can lessen learning disabilities sometimes associated with the disease.
"We are on the brink of some major advances in understanding neurofibromatosis," Dr. David A. Stumpf, the conference chairman, said after a news briefing.
The disease, which afflicts an estimated 100,000 persons in this country, often characterized by disfiguring benign lumps on the skin and nerve-cell tumors, he said. The disfigurement rarely is as bad as that associated with the man for whom the disease commonly is known, he added.
Joseph Merrick, sometimes called John Merrick, a 19th century Englishman who was diagnosed as having severe neurofibromatosis, became known as the Elephant Man when he exhibited himself under that name at side shows.
Stumpf said doctors now believe Merrick's severe disfigurement, including large tumors that gave his skin the appearance of that of an elephant, may have stemmed from a different disease. But his name and appearance remains associated with the original diagnosis of neurofibromatosis.
New genetic research shows that genes on two different chromosomes, repositories of inherited information in cells, are responsible for neurofibromatoses.
Locating the origins of the disorder shows that there are two distinct forms of the disease that should be considered separately and various names for related conditions should be collected under new common names, the panel said.
The group proposed renaming the most common type of the condition neurofibromatosis 1, or NF-1, a classification that would include what was formerly called von Recklinghausen's disease or peripheral neurofibromatosis.
NF-1, estimated to affect one in 4,000 individuals to some degree, is characterized by multiple brown or cafe-au-lait colored spots on the skin, nerve tumors of varying sizes under the skin and curvatures of the spine and other bones.
The panel said the second classification of the disease, termed NF-2, should include what has been called bilateral acoustic or central neurofibromatosis. NF-2, estimated to occur in one of every 50,000 persons, is characterized by head or spinal tumor masses that can involve the auditory nerves, leading to deafness.
Major surgery and radiation therapy should be used sparingly in treating NF-1 and only when it is clear the therapies contribute to the patient's well-being, said the panel in recommendations to doctors.
However, it added, disfigurement and facial deformities that may benefit from reconstructive or plastic surgery are common and doctors should consider this kind of treatment to help patients function better and contribute to psychological well-being.
Asymptomatic NF-1 patients are unlikely to get any benefit from extensive laboratory and brain imaging tests, it said, and they are not recommended.
The panel said NF-2 patients should be advised of the possibility of total hearing loss in the future and referred to treatment centers with experience in long-term preservation of hearing.
Patients with evidence of hearing loss, headaches, balance problems or similar symptoms should be tested for auditory nerve function, it continued, and magnetic resonance imaging, a method of taking brain pictures, should be used to locate and size any tumor.
Auditory tumors, which usually affect both ears in NF-2 patients, are best removed when they are small, the panel said. However, doctors should only try surgery on one ear at a time in case the procedure results in deafness, it said, and only operate on the second ear if the first is successful.