Neurofibromatosis, aka von Recklinghausen disease, refers to a group of genetic disorders that cause multiple soft tumors to grow in peripheral nerve tissue, aka neurofibromas. This disorder causes a nerve tumor to begin in your nerve’s supporting cells and myelin sheath, rather than nerve transmitting cells themselves.
A nerve tumor feels rubbery and overlying skin may appear purplish. As a neurofibroma grows under your skin or along your nervous system, it can cause functioning issues and malformations to surrounding tissue.
Most von Recklinghausen disease caused nerve tumors are benign. Yet, a small percentage will become cancerous.
Neurofibromatosis is primarily an inherited disease, but a spontaneous genetic mutation is a cause as well. And then this mutant gene can be passed to the next generation.
One key sign of neurofibrmatoisis is the presence of multiple patches of tan or light brown skin spots, aka café au lait spots. Also, freckling in the armpit or groin area is an indication too.
Some symptoms or complications of neurofibrmatoisis may include:
- seizures
- speech impairment
- high blood pressure
- early, delayed puberty
- scoliosis, humpback, bowed legs
- optic nerve tumors causing vision problems, blindness
Symptoms are often noticeable at birth or during infancy.
Certain cancers are more prevalent in those with von Recklinghausen disease, like:
Standard treatment involves surgical removal of your nerve tumor symptom. Presently, there’s no treatment available that prevents a neurofibroma from developing in the first place.