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Neurofibromatosis

This is an autosomal dominant, neurocutaneous disorder that affects the bone, soft tissue, skin, and nervous system. There are 2 types of it:

  • Type 1 NF - This presents with:

    • Café-au-lait macules - flat light brown birthmarks

      • These are characteristic of Type 1 Neurofibromatosis

    • Lisch nodules - tiny tumours in the iris of the eye

    • Multiple neurofibromas - tumours that hang off the skin

    • Freckling in skin folds - called Crowe sign when in armpits

      • N.B. Lisch nodules don’t cause issues clinically, but are useful for the diagnosis.

“Main symptoms and other features of neurofibromatosis type 1. In addition to the annotated signs, the girl in the center image also displays diastasis recti, which is a less common presentation.” © Mikael Häggström, M.D. CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/)

  • Type 2 NF - This presents with:

    • Multiple tumours and lesions on the brain and spinal cord

    • The first symptom is usually hearing loss due to a tumour growing on the auditory nerves. Often this is not apparent until the late teens or early 20s.

“Figure of various morbidities associated with neurofibromatosis type II.” © Ikumi Kayama CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/)

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