Neurofibromatosis type I
Bildnummer 12637889
| Neurofibromatosis type I (NF-1) is a tumour disorder that is caused by the mutation of a gene on chromosome 17 that is responsible for control of cell division. NF-1 causes tumours along the nervous system and can grow anywhere on the body. Common symptoms of NF-1 include brownish-red spots in the coloured part of the eye called Lisch nodules, benign skin tumours called neurofibromas, and larger benign tumours of nerves called plexiform neurofibromas, scoliosis (curvature of the spine), learning disabilities, vision disorders, mental disabilities, multiple cafe au lait (TCL, name of specifics spots) spots and epilepsy. NF-1 is a developmental syndrome caused by germline mutations in neurofibromin, a gene that is involved in the RAS pathway (RASopathy). Due to its rarity and to the fact that genetic diagnosis has been used only in recent years, in the past NF-1 was in some cases confused with another syndrome with vaguely similar symptoms, the Legius syndrome. | |
| Lizenzart: | Lizenzpflichtig |
| Credit: | Science Photo Library / Clinical Photography |
| Bildgröße: | 2131 px × 3183 px |
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| Eigentums-Rechte: | nicht erforderlich |
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