Neurofibromatosis 1

Last Updated: 2021-11-19

Author(s): Anzengruber F., Navarini A.

ICD11: LD2D.10

From Recklinghausen 1882

Peripheral neurofibromatosis, neurofibromatosis generalisata, Recklinghausen's disease, NF, NF-1.

Autosomal-dominantly inherited neuroectodermal systemic disease.

  • Incidence: Approx. 1/3,000 live births.
  • Males > females.

  • Deficiency of the NF-1 gene (17q11.2)
  • Autosomal dominant inheritance
  • Almost 100% penetrance
  • New mutations occur in about 50% of cases

  • Café-au-lait stains
  • Hyperpigmentation axillary, inguinal, sometimes also in the area of the oral mucosa.
  • Neurofibromas with bell-button phenomenon: exophytic growing, subcutaneous skin lesions can be pushed below the skin level when pressure is applied and then emerge again.

≥2 criteria must be met for a diagnosis:

  1. ≥ 6 café-au-lait spots
    1. Ø before puberty ≥ 0.5 cm
    2. Ø after puberty ≥ 1,5 cm
  2. ≥ 2 neurofibromas of any type or 1 plexiform neurofibroma
  3. Pigmentation axillary or inguinal
  4. ≥ 2 Lisch nodules
  5. Opticular glioma
  6. Osseous changes e. g.E.g.
    1. Wedge bone wing dysplasia
    2. Thinning of the long tubular bones (rarefication) +/- pseudoarthrosis
  7. 1st degree relatives (parents, siblings or children) with NF-1.

  • CNS:
    • Neurological symptomatology when occurring in spinal and cranial nerve roots
      • Tumours
        • Meningiomas
        • Astrocytomas
        • Opticular glioma
      • Learning disabilities
      • Mental retardation
      • Epilepsy
      • Brain pressure-.Symptomatology
  • Eye
    • Lisch Nodule
  • Skeletal
    • Scoliosis
    • tibial pseudarthrosis
    • Pelvic wing dysplasia
  • Endocrine disorders
    • Rarely pheochromocytoma
    • Hypopituitarism tumour
  • Malignant tumours
    • CML
    • Nerve sheath tumours

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