However, it is now generally believed that Merrick suffered from the very rare Proteus syndrome. Joseph Merrick, the Elephant Man, was once considered to have been affected with either elephantiasis or neurofibromatosis type I. He wrote on it and published it in Hämochromatose, Tageblatt der Naturforschenden Versammlung. Neurofibromatosis was discovered in 1882 by the German pathologist Friedrich Daniel von Recklinghausen. Moreover, in around half of cases there is no other affected family member because a new mutation has occurred. Disease severity in affected individuals, however, can vary (this is called variable expressivity). Therefore, if only one parent has neurofibromatosis, his or her children have a 50% chance of developing the condition as well. Neurofibromatosis is autosomal dominant, which means that it affects males and females equally and is dominant (only one copy of the affected gene is needed to get the disorder).
#Type 3 neurofibromatosis skin
Cellular elements from these cell types proliferate excessively throughout the body forming tumors and the melanocytes function abnormally resulting in disordered skin pigmentation.The tumors may cause bumps under the skin, colored spots, skeletal problems, pressure on spinal nerve roots, and other neurological problems. The disorder affects all neural crest cells ( Schwann cells, melanocytes, endoneurial fibroblasts). neurofibromas) that may be harmless or may cause serious damage by compressing nerves and other tissues. Neurofibromatosis is a genetically-inherited disease in which nerve tissue grows tumors (e.g.