Innehållsförteckning
Vad är neurofibromatos typ 1?
Den vanligaste formen bland neurofibromatoserna är neurofibromatos typ 1, även kallad von Recklinghausens sjukdom, som kan ge symtom från hud, ögon, skelett och nervsystem. Neurofibrom är bindvävstumörer som uppstår kring nerver och de presenterar sig ofta som tumörer i huden.
What is neurofibromatosis type I?
Neurofibromatosis type I ( NF-1) is a complex multi-system human disorder caused by the mutation of a gene on chromosome 17 that is responsible for production of a protein called neurofibromin which is needed for normal function in many human cell types. NF-1 causes tumors along the nervous system which can grow anywhere on the body.
What is Nene neurofibromatosis type 1?
Neurofibromatosis type I. Neurofibromatosis type I (NF-1) is a complex multi-system human disorder caused by the mutation of a gene on chromosome 17 that is responsible for production of a protein called neurofibromin which is needed for normal function in many human cell types.
What are the symptoms of neurofibromatosis type 1 (NF1)?
In many cases, the first symptom of neurofibromatosis type 1 (NF1) is multiple small dark colored birth marks known as café-au-lait spots. As they grow older, people with NF1 develop neurofibromas, benign tumorsthat can affect nearly any nerve in the body.
How common are Freckles in neurofibromatosis type 1?
More than 5 café-au-lait macules are found in 1.8% of newborns, 25–40% of children, and 14% of adults with NF1. Freckling in the armpits, known as Crowe sign, is characteristic of neurofibromatosis type 1. The freckles appear during puberty, after the development of café-au-lait macules and before neurofibromas.
What is neurofibromatosis type 1?
Neurofibromatosis type 1 (NF1) is a genetic condition that affects the skin, the skeleton and the part of the nervous system outside the brain and spinal cord peripheral nervous system).
What are neurofibromas?
Two or more soft, pea-sized bumps involving the skin (cutaneous neurofibromas), or one larger neurofibroma that involves multiple nerves ( plexiform neurofibroma ). Neurofibromas are tumors that originate from nerve cells. Plexiform neurofibromas are nerve-associated tumors involving nerves outside of the brain and spinal cord.
How common is neurofibromatosis 2 (NF2)?
Neurofibromatosis 2 (NF2) is less common than NF1. Approximately 50 percent of affected people inherit the abnormal gene (familial); in others the condition is caused by a spontaneous genetic mutation in the NF2 gene. Each child of an affected parent has a 50 percent chance inheriting the abnormal NF2 gene.
Can neurofibromatosis 1 be cured?
Curvature of the spine can be more common and more aggressive in people with NF1. NF1 cannot be cured, but treatments can help manage signs and symptoms. manifestation (disease signs or development) during their lives. People with