Updated: 9/2/2018

Neurofibromatosis Type 1 (Von Recklinghausen Disease)

Review Topic
  • A 3-year-old boy presents to his pediatrician for multiple hyperpigmented lesions on his skin. Family history is significant for a genetic disorder in which his father to have similar skin lesions that are much larger. Medical history is otherwise unremarkable. On physical exam, there are 7 café au lait macules about 6 mm in size throughout the body along with axillary freckling.
  • Definition
    • an autosomal dominant disorder that can present with
      • café au lait macules
      • neurofibromas
      • Lisch nodules
      • axillary and inguinal freckling
      • pheochromocytoma
      • optic glioma
  • Etiology
    • autosomal dominant mutation in NF1 gene on chromosome 17
      • complete penetrance but variable expression
  • Pathophysiology
    • mutated NF1 gene insufficiently creates neurofibromin, a tumor suppressor
      • this, in turn, dysregulates cell growth and development
  • Prognosis
    • associated with increased mortality
  • Physical exam
    • café au lait macules
      • typically by age 2
    • axillary or inguinal freckling
      • typically by age 3-5
    • cutaneous neurofibromas
    • Lisch nodules
  • Making the diagnosis
    • clinical diagnosis typically made in children
    • genetic counseling
  • Preventative
    • prenatal testing
  • Neurofibromatosis type 2
    • differentiating factors
      • mutation in NF2 gene on chromosome 22
      • findings include
        • bilateral acoustic schwannomas
        • juvenile cataracts
        • meningiomas
        • ependymomas
  • Treatment is targeted to the clinical manifestations
    • e.g., surgical removal with discrete neurofibromas
  • Increased risk of malignancy

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