Extremely rare, prevalence less than 0,001%
Etiology
- Postzygotic somatic mutation
Clinical presentation
- Neurofibromas, café-au-lait spots and sometimes lentigenes on a single body segment or even one side of the body or more rarely on several bilateral segments or Lisch nodules
Rule out neurofibromatosis 1 or 2
Genetic counceling
- Few exceptional cases of NF1 inherited from parents with a segmental form
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