Neurofibromatosis commonly abbreviated NF , a genetically inherited disease that causes tumors to grow on nerve tissue producing skin and bone abnormalities, affects an estimated , Americans. Neurofibromatosis was first described in by the German pathologist, Friedrich Daniel von Recklinghausen. Neurofibromatosis is considered a member of the neurocutaneous syndromes phakomatoses.
The other phakomatoses include tuberous sclerosis, Sturge-Weber syndrome and von Hippel-Lindau disease. These distinctive spots are non-itchy and painless. They can be found anywhere on the body. Tiny ones, freckles, may be seen under the arms or in the groin area. The neurofibromas often first appear in childhood, especially during puberty, as brown, pink, or skin-colored nodules. They may be soft or firm to the touch, and disappear into the skin when pressed with a finger.
Plexiform neurofibromas are noncircumscribed, thick and irregular and they can cause disfigurement by entwining important supportive structures. The plexiform subtype is specific for NF-1, described below.
NF-1 โ More common, occurring in approximately 1 of live births. The diagnosis requires any two of the following seven criteria:. Two or more skin neurofibromas and one plexiform neurofibroma.
Freckling of the groin or the axilla arm pit by years of age. Skeletal abnormalities, such as sphenoid dysplasia or bowing of the long bones of the body and mild scoliosis, may occur.
