Von Recklinghausen disease of the skin, also known as neurofibromatosis type 1 (NF1), is a genetic disorder that causes tumors to grow on the nerves. These tumors, called neurofibromas, can appear on the skin, in the brain, and in other parts of the body.
Symptoms of Von Recklinghausen disease:
- Skin lesions: Café-au-lait spots (light brown birthmarks), freckling in the armpits or groin, and neurofibromas (soft, fleshy tumors) are common symptoms.
- Bone deformities: Scoliosis (curvature of the spine), bone thinning, and bone fractures can occur.
- Learning disabilities: Some individuals with NF1 may have learning disabilities or attention-deficit/hyperactivity disorder (ADHD).
- Vision problems: Optic nerve gliomas (tumors on the optic nerve) can cause vision problems.
- Hearing loss: Acoustic neuroma (tumor on the acoustic nerve) can cause hearing loss.
Causes of Von Recklinghausen disease:
NF1 is caused by a mutation in the NF1 gene. This gene provides instructions for making a protein that helps regulate cell growth. A mutation in this gene can lead to uncontrolled cell growth and the development of neurofibromas.
Treatment of Von Recklinghausen disease:
There is no cure for NF1, but treatment focuses on managing symptoms. Treatment options may include:
- Surgery: To remove neurofibromas or correct bone deformities.
- Radiation therapy: To shrink or destroy tumors.
- Chemotherapy: To shrink or destroy tumors.
- Physical therapy: To improve mobility and strength.
- Occupational therapy: To improve daily living skills.
- Speech therapy: To improve communication skills.
- Psychological therapy: To help individuals cope with the emotional and social challenges of NF1.
Living with Von Recklinghausen disease:
Living with NF1 can be challenging, but there are many resources available to help individuals and their families. Support groups, online communities, and healthcare professionals can provide information, guidance, and support.
