Neurofibromatose 1

Letztmals aufdatiert: 2020-06-18

Autor(en): Anzengruber, Navarini

ICD11: LD2D.10

Von Recklinghausen 1882

Periphere Neurofibromatose, Neurofibromatosis generalisata, Morbus Recklinghausen, NF, NF-1.

Autosomal-dominant vererbte neuroektodermale Systemerkrankung.

  • Inzidenz: Ca. 1/3'000 Lebendgeburten.
  • Männer > Frauen.
  • Defekt des NF-1-Gens (17q11.2)
  • Autosomal-dominante Vererbung
  • Fast 100%ige Penetranz
  • Neumutationen kommen in ca. 50% der Fälle vor.
  • Café-au-lait-Flecken
  • Hyperpigmentierungen axillär, inguinal, manchmal auch im Bereich der Mundschleimhaut.
  • Neurofibrome mit Klingelknopfphänomen: Exophytische wachsende, subkutane Hautläsionen lassen sich auf Druck unter das Hautniveau schieben und kommen dann wieder hervor.

≥2 Kriterien müssen für eine Diagnose erfüllt sein:

  1. ≥ 6 Café-au-lait-Flecken
    1. Ø vor der Pubertät ≥ 0,5 cm
    2. Ø nach der Pubertät ≥ 1,5 cm
  2. ≥ 2 Neurofibrome jedes Types oder 1 plexiformes Neurofibrom
  3. Pigmentierungen axillär oder inguinal
  4. ≥ 2 Lisch-Knötchen
  5. Optikusgliom
  6. Ossäre Veränderungen z.B.
    1. Keilbeinflügeldysplasie
    2. Verdünnung der langen Röhrenknochen (Rarefikation) +/- Pseudoarthrose
  7. Verwandter 1. Grades (Eltern, Geschwister oder Kinder) mit NF-1.
  • ZNS:
    • Neurologische Symptomatiken bei Auftreten in Spinal- und Hirnnervenwurzeln
      • Tumore
        • Meningeome
        • Astrozytome
        • Optikusgliom
      • Lernbehinderungen
      • Geistige Retardierung
      • Epilepsie
      • Hirndruck-Symptomatik 
  • Auge
    • Lisch-Knötchen
  • Skelett
    • Skoliose
    • Tibiapseudarthorse
    • Kelbeinflügeldysplasie
  • Endokrine Störungen
    • Selten Phäochromozytom
    • Hypophysen-Tumor
  • Maligne Tumore
    • CML
    • Nervenscheiden-Tumore
  • Chirurgische Exzision von Tumoren
  • Dermatologische Untersuchungen sollten 1x jährlich stattfinden.
  • Genetische Beratung
  • Pränatale Diagnostik
  • Kontrollen in anderen Kliniken
    • Neurologie
    • Augenheilkunde
    • HNO
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