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by vivianrosaline37
Last updated 8 years ago

Health & Fitness

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Description- Also called Von Recklinghausen disease.- Most common type of neurofibromatosis (neurofibromatosis II andschwannomatosis).- Genetic disorders that cause tumors to grow in the nervous system.- Occured in 1 of 3,000 to 4,000 people in the U.S.- Most cases are from inheritance.- 30-50% of new cases are spontaneous genetic mutation of unknown cause.

Neurofibromatosis 1 Gene and the Effect of Its Mutation- Neurofibromatosis 1 gene is located on chromosome 17 & produces neurofibromin (acts as a “tumor suppressor,” which means that it helps to keep cells from growing and dividing too quickly and it promotes cell death. This protein functions by “turning off” a second protein that stimulates cell growth and division.).- The deletion mutation of the NF1 gene causes a loss of neurofibromin, therefore, allows the cells to grow uncontrollably.

Signs and Symptoms - Flat, light brown spots on the skin. “Café-au-lait” spots; usually present at birth or 1st years of life & stabilize; diameter measuring more than 5 mm in diameter in children or 15 mm in adolescents and adults.-Freckling in the armpits or groin area. Usually 4-5 yrs. old.- Soft bumps on or under the skin (neurofibromas).- Tiny bumps on the iris of your eye. Lisch nodules or iris hemartomas- Bone deformities. Abnormal development of the spine (scoliosis), the temple (sphenoid) bone of the skull, or the tibia.- Learning disabilities. ADHD is most common.- Hydrocephalus. Larger circumference than average head size.- Short stature. Below avergae in height.- Tumor on the optic nerve (optic nerve glioma). - A parent, sibling, or child with NF1.

Diagnosis - Physical examination and medical history. Checking for the characteristics of NF1 & may use a special lamp to check your skin for light-colored ("cafe au lait") spots.- Eye Exam. Ophthalmologist detect tiny bumps on the iris of your eye (Lisch nodules) and cataracts.- Imaging Tests. X-rays, CT scans and MRIs can help to identify bone abnormalities (deep tumors in the brain/spinal cord), very small tumors. An MRI can also help identify optic pathway gliomas in your eye.- Genetic Tests.

Treatments- NF1 can't be cured & scientists have not able to prevent neurofibromas from growing.- Doctors will monitor you for complications and treat your symptoms. - Surgery is often recommended to remove tumors that become symptomatic, cancerous, or cause significant cosmetic disfigurement.- Treatment for neurofibromas that become malignant may include surgery, radiation, or chemotherapy & may also be used to control or reduce the size of optic nerve gliomas when vision is threatened. - Some bone malformations, such as scoliosis, can be corrected surgically.

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An Indonesian woman whose body is covered by hundreds of tumours has been forced to flee her village leaving her children behind after her family disowned her. She has suffered from NF1 for approximately for three years without treatment due to her finacial availability.


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