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Dermatological features

Authoring team

The dermatological manifestations of type I neurofibromatosis include:

  • cafe-au-lait spots:
    • six or more of 0.5 cm in diameter is characteristic
    • usually develop during the first year of life but may be present from birth

  • Crowe's sign:
    • bilateral axillary and inguinal freckling

  • cutaneous neurofibromas:
    • develop in late childhood
    • soft, sometimes pedunculated
    • appear to be "button holed" through the skin
    • may progress to become plexiform neurofibroma, mollusca fibrosa or elephantiasis neurofibromatosa.
    • Some lesions may become very large.

 

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