Anatom3DNeurofibromatosis type 1
Neurofibromatosis typus 1 (morbus Recklinghausen) · Neurofibromatóza 1. typu
What it is
A common single-gene disorder (1 in 3000) that grows benign tumours on nerves, with café-au-lait spots, freckling and learning difficulties.
Symptoms & signs
- Café-au-lait patches
- freckles in the armpits and groin
- soft lumps on or under the skin (neurofibromas)
- small spots on the iris
- learning difficulties
- scoliosis
🚩 Get help if…
- see a doctor soon A lump that grows fast, turns hard or becomes painful
- see a doctor soon Changes in eyesight in a child
- see a doctor soon High blood pressure with headaches or sweating
- see a doctor soon New weakness, numbness or a curving spine
Where it strikes
Medical treatment
- Clinical diagnosis and genetic testing
- yearly checks of eyes, blood pressure, spine
- selumetinib for plexiform neurofibromas
- surgery for troublesome tumours
- watch for malignant change
Natural & lifestyle
- Regular skin and blood-pressure checks
- school support
- genetic counselling
Emerging & experimental
- MEK inhibitors for other tumours
- gene therapy
Alternative, off-label & anecdotal
Approaches used outside the guidelines, with what their supporters report and what testing has found so far.
- Curcumin — a small study reduced neurofibromas early / small studies
- Low-inflammation diets — anecdotal anecdotal / traditional
- Topical vitamin D — a small study on café-au-lait spots early / small studies
ICD codes
- ICD-10 Q85.0
- ICD-11 LD2D.10 Neurofibromatosis type 1