Elephant man disease is the common name of the genetic condition neurofibromatosis (NF). According to Neurofibromatosis, Inc., a person's nervous system will cause the body to grow grotesque tumors on the nerves anywhere on the body. The most famous victim of NF was thought to be Joseph Merrick (1862--1890), nicknamed "The Elephant Man" (pictured), but it is now thought that he actually suffered from Proteus Syndrome. However, the nickname has stuck.
There are two types of neurofibromatosis: NF-1 and NF-2. NF-1 is more common. NF-2 is generally considered to be more severe. According to the National Institute of Neurological Disorders and Stroke (NINDS), although many patients inherit the gene that causes the tumor growths, 30 percent to 50 percent of patients get symptoms due to spontaneous mutation from the person's genes. Why they mutate is unknown.
Symptoms of NF are usually not apparent at childbirth. Huang Chuncai ("China's Elephant Man," see resources) did not start showing any symptoms until he was 4 years old. Until then, he looked like any normal child. Once the tumors begin to grow, they grow throughout the rest of the victim's life. According to The Centre for Genetics Education, some victims of NF-2 do not begin tumor growth until they are in their 40s or 50s.
NINDS states that sometimes the earliest symptoms are unusual skin growths, but people can feel varying symptoms because tumors too small to see are pressing down on nerves. These tumors can cause symptoms such as tinnitus, which is the perception of sound in the ears or head; vision problems; balance problems; numbness on the face; and headaches.
According to Neurofibromatosis, Inc., symptoms of NF-1 include at least six coffee-colored spots at least 1.5 cm long in adults (0.5 cm in children), freckling in the groin or armpits, two or more large skin growths called neurofibromas, a tumor around or inside one eye or both eyes (especially in the iris), a bony growth, or other growing deformities of the skeleton.
Symptoms of NF-2 vary widely for each individual, but some of the most common are vision problems such as cataracts, spinal tumors, hearing loss, severe balance problems, brain tumors, and two or more skin tumors of various sizes. Eventually, the tumors grow so large that they can block vital organs from functioning and cause death.