Neurofibromatosishttps://en.wikipedia.org/wiki/Neurofibromatosis_type_I
Neurofibromatosis nyaéta gangguan multi‑sistem manusa kompléks disababkeun ku mutasi neurofibromin. Neurofibromatosis ngabalukarkeun tumor sapanjang sistim saraf nu bisa tumuwuh di mana waé dina awak. Neurofibromatosis nyaéta salah sahiji gangguan genetik anu paling umum sareng gangguan dominan autosomal.

Gejala umum tina neurofibromatosis ngawengku bintik beureum‑coklat dina iris anu disebut nodul Lisch sareng neurofibroma. Scoliosis (curvature tina tulang tonggong), cacad diajar, gangguan visi, cacad méntal, macule café‑au‑lait (café‑au‑lait macules) jeung epilepsy bisa ogé dibarengan.

Henteu aya perlakuan khusus dugi ka ayeuna.

☆ AI Dermatology — Free Service
Dina hasil Stiftung Warentest 2022 ti Jerman, kapuasan konsumen sareng ModelDerm ngan ukur langkung handap tibatan konsultasi telemedicine anu mayar.
  • Cafe au lait macule katingal dina Neurofibromatosis type 1 (NF-1)
  • Multiple Neurofibromas (Von Recklinghausen disease)
  • Neurofibroma
  • Sababaraha neurofibroma leutik.
  • NF-1 ― Balik pasien manula.
  • Manifestasi has NF-1. Sajumlah neurofibroma dititénan kalayan pigmentasi bintik.
  • Pasén kalawan raray angiofibroma disababkeun ku tuberous sclerosis
References Neurofibromatosis 29083784 
NIH
Neurofibromatosis mangrupikeun kaayaan anu nyababkeun tumor dina sistem saraf sareng kulit. Neurofibromatosis tipe 1 (Neurofibromatosis type I) diwariskeun sacara dominan sareng nunjukkeun gejala sapertos neurofibroma, bintik café‑au‑lait (café‑au‑lait spots), bintik‑bintik (freckling), sareng glioma optik (optic gliomas). Diagnosis dumasar kana tanda klinis. Neurofibromatosis tipe 2 (Neurofibromatosis type II), di sisi séjén, ditandaan ku schwannoma vestibular (vestibular schwannomas) (VS) sareng meningioma (meningiomas), ogé diwariskeun sacara dominan. Manajemén ngalibatkeun pangawasan rutin sareng perawatan médis upami diperyogikeun pikeun duanana jinis 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.