What Is Neurofibromatosis

What is mosaicism or modulatesconversion Neurofibromatosis? segmental of guanosine hyperexpression of the triphosphate (GTP) to Neurofibromatosis is condition. Loss of guanosine diphosphate an autosomal heterozygosity may (GDP). The gene for dominant disorder that create the clinical NF-2 is on band affects the bone, the impression of 22q11.3Less is known nervous system, soft segmental lesions. about the action of the tissue, and the skin. At protein encoded at this least 8 different clinical location; however, loss phenotypes of What causes of heterozygosity at neurofibromatosis Neurofibromatosis? this region has been have been identified reported in cases of and are linked to at Neurofibromatosis is acoustic neuromas, least 2 genetic an autosomal neurofibromas, and disorders. dominant neurogenetic meningiomas. Neurofibromatosis is a disorder. Increased neurocutaneous concentrations of condition that can nerve growth Is there treatment? involve almost any stimulating activity organ system. have been linked with There is no specific Therefore, the the development of treatment for presenting signs and neurofibromatosis. NF- neurofibromatosis. An symptoms may vary 1 is a disorder with eye specialist widely. Two major variable phenotypic (ophthalmologist) may subtypes exist: expression. Some examine the eyes with a neurofibromatosis 1 patients may primarily slit-lamp microscope to (NF-1), which is the have cutaneous detect benign lesions on most common subtype expression, while the iris (Lisch nodules), and is referred to as others may have life- which may be caused by peripheral NF, and threatening or severely optic gliomas. Tumors neurofibromatosis 2 disfiguring that cause pain or loss of (NF-2), which is complications. The function may be referred to as central variation of this removed. Tumors that NF. These descriptions disease is even have grown quickly are not especially demonstrated within should be removed accurate because NF-1 families. NF-I is linked promptly as they may often has central to a large gene on band become cancerous features. A third 17q11.2. It encodes a (malignant). variant is known as protein termed Experimental treatments segmental NF; this neurofibromin, which for severe tumors are term is used to has a guanosine under investigation. describe disease triphosphatase Some children with limited to a single body (GTPase) region that learning disorders may need special schooling. region. Segmental NF binds to Ras and may be related to positively Sources: 1. http://emedicin e.medscape.com /article/11120 01-overview

2. http://www.nl m.nih.gov/medl ineplus/ency/a rticle/000795.h tm

3. http://www.ne urologychannel. com/neurofibro matosis/diagno sis.shtml

4. http://orthoinf o.aaos.org/topic .cfm? topic=A00050

5. http://www.nfi nc.org/what.sht ml