Neurofibromatożi (Neurofibromatosis) hija diżordni umana kumplessa b'ħafna sistemi kkawżata mill-mutazzjoni tan-neurofibromin. neurofibromatożi (neurofibromatosis) tikkawża tumuri tul is-sistema nervuża li jistgħu jikbru kullimkien fuq il-ġisem. neurofibromatożi (neurofibromatosis) hija waħda mill-aktar disturbi ġenetiċi komuni u disturb awtosomali dominanti.
Sintomi komuni ta' neurofibromatożi (neurofibromatosis) jinkludu tikek kannella-aħmar fil-parti kkulurita tal-għajn imsejħa noduli Lisch u neurofibromas. Skoljożi (kurvatura tas-sinsla tad-dahar), diżabilitajiet fit-tagħlim, disturbi fil-vista, diżabilitajiet mentali, spots multipli café au lait u epilessija jistgħu jkunu akkumpanjati wkoll.
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.
Cafe au lait macule tidher fi Neurofibromatosis type 1 (NF-1)
Neurofibromatosi (Neurofibromatosis) hija kundizzjoni li tikkawża tumuri fis‑sistema nervuża u fil‑ġilda. It‑Tip 1 jintiret b'mod dominanti u juri sintomi bħal neurofibromi (neurofibromas), macule café‑au‑lait (café‑au‑lait spots), freckles (freckling), u gliomi ottici (optic gliomas). Id‑dijanjosi hija bbażata fuq sinjali kliniċi. It‑Tip 2, min‑naħa l‑oħra, huwa mmarkat b'schwannomi vestibulari bilaterali (bilateral vestibular schwannomas, VS) u meningiomi (meningiomas), ukoll wkoll b'mod dominanti. Il‑ġestjoni tinvolvi monitoraġġ regolari u trattament mediku kif meħtieġ għaż‑żewġ tipi ta’ neurofibromatosi (Neurofibromatosis). Neurofibromatosis is a neurocutaneous disorder characterized by tumors in the nervous system and skin. Neurofibromatosis types 1 and 2 are the most common and are distinct entities. Neurofibromatosis type 1, or von Recklinghausen disease, is an autosomal dominant disease. Neurofibromatosis type 1 presents with neurofibromas, cafe-au-lait macules, freckling, and optic gliomas. It is a clinical diagnosis. Neurofibromatosis type 2 (NF2) is a disease characterized by bilateral vestibular schwannomas (VS) and meningiomas. It has an autosomal dominant inheritance pattern. Treatment for neurofibromatosis types 1 and 2 is clinical monitoring and medical intervention when appropriate.
Sintomi komuni ta' neurofibromatożi (neurofibromatosis) jinkludu tikek kannella-aħmar fil-parti kkulurita tal-għajn imsejħa noduli Lisch u neurofibromas. Skoljożi (kurvatura tas-sinsla tad-dahar), diżabilitajiet fit-tagħlim, disturbi fil-vista, diżabilitajiet mentali, spots multipli café au lait u epilessija jistgħu jkunu akkumpanjati wkoll.
S'issa m'hemm l-ebda trattament speċifiku.