Friedrich daniel von recklinghausen neurofibromatosis anatomia

  • La neurofibromatosi tipus I, neurofibromatosi perifèrica o malaltia de Von Recklinghausen, és el tipus més freqüent de neurofibromatosi i va ser descrita.
  • Neurofibromatosis type 1 (NF1) is one of the most common genetic tumor predisposition syndrome, caused by mutations in the NF1.
  • Neurofibromatosis type 1 or Von Recklinghausen's disease is a genetic disorder characterized by the development of multiple benign tumors of nerves and skin .

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    Neurofibromatosi tipus 1

    La neurofibromatosi tipus I, neurofibromatosi perifèrica o malaltia de Von Recklinghausen,[1] és el tipus més freqüent de neurofibromatosi i va ser descrita per primera vegada el 1882 per Friedrich Daniel von Recklinghausen, un patòleg alemany.[2]

    Epidemiologia

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    Des de llavors, és clar no tan sols que les neurofibromatosis I són una de les malalties genètiques més freqüents (1/3.500 naixements), sinó també que hi ha diferents expressions de la malaltia que tenen trets diversos.[3] Afecta a totes les races i als dos sexes per igual. La meitat dels casos tenen antecedents familiars de la malaltia i l'altra meitat, aproximadament, es deu a mutacions de novo. Es creu que, com a mínim, un milió d'individus arreu del món la pateixen.[4] La forma descrita per Von Recklinghausen és, amb diferència, la més comuna de totes les neurofibromatosis, arribant aproximadament al 85% dels casos.

    Clínica

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  • Imatinib mesylate (Glivec) inhibits Schwann cell viability and reduces the storlek of human plexiform neurofibroma in a xenograft model.

    PubMed

    Demestre, Maria; Herzberg, Jan; Holtkamp, Nikola; Hagel, Christian; Reuss, David; Friedrich, Reinhard E; Kluwe, Lan; Von Deimling, Andreas; Mautner, Victor-F; Kurtz, Andreas

    2010-05-01

    Plexiform neurofibromas (PNF), one of the major features of neurofibromatosis type 1 (NF1), are characterized bygd complex cellular composition and mostly slow but variabel growth patterns. In this study, we examined the effect of imatinib mesylate, a receptor tyrosine kinase inhibitor, on PNF-derived Schwann cells and PNF tumour growth in vitro and in vivo. In vitro, PNF-derived primary Schwann cells express platelet-derived growth factors receptors (PDGFR) alpha and beta, both targets of imatinib, and cell viability was reduced by imatinib mesylate, with 50% inhibition concentration (IC(50)) of 10 microM. For in vivo studies, PNF tumour fragments xenografted

  • friedrich daniel von recklinghausen neurofibromatosis anatomia

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    OCULO-CUTANEOUS MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE – I: A CASE REPORT

    CASE REPORTS OCULO-CUTANEOUS MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE – I: A CASE REPORT Rajendra P Maurya1,*, Ishan yadav2, Virendra P. Singh3, Mahendra K. Singh4, Mohan Kumar5 1Assistant Professor, 2Senior Resident, 3,4Professor, Department of Ophthalmology, 4Professor, Department of Pathology, Institute of Medical Sciences, Banaras Hindu University, Varanasi-221005 UP, India *Corresponding Author: E-mail: editor.ijceo@gmail.com ABSTRACT Background: Neurofibromatosis (NF) is one of the most common genetic disorders with variable expression. It is characterized by neuroectodermal tumors arising within multiple organs. Case Report: We report an interesting case of 14 year old girl who presented with swelling and mild mechanical ptosis of right eye upper lid which was associated with multiple cutaneous abnormalities and fibromatosis of external genitalia. Complete excision of lid mass was done and histopatho