Main criteria Neurofibromatosis type 1 | Neurofibromatosis type 1

Main criteria Neurofibromatosis type 1

Neurofibromatosis exists if at least two of the following main criteria are present:

  • Six or more Café-au-lait stains
  • Axillary (in the armpit) and/or inguinal (in the groin) mottle
  • At least two neurofibromas or at least one plexiform neurofibroma
  • Optic Glioma
  • At least two Lisch nodules of the iris
  • Bone deformities (bone deformation), especially of the sphenoid bone (Os sphenoidale = part of the skull bone)
  • Related first degree with neurofibromatosis type 1

Desire to have children

In principle, nothing stands in the way of the offspring of NF1 (neurofibromatosis type 1) sufferers. Because NF1 is inherited autosomal-dominantly, the risk of having a child with the same disease is 50% if one parent is affected. Modern technical and analytical procedures make it possible to obtain certainty at an early stage.

If the child is also ill, it is not possible to draw conclusions about the course of the child’s illness due to the symptoms of the parent. Pregnant women with neurofibromatosis often report that new neurofibromas form during pregnancy or that already existing neurofibromas begin to grow. Not infrequently, a Caesarean section is necessary if the pelvic region of the pregnant woman is affected by neurofibromas. As a rule, however, the pregnancy proceeds without complications.