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Updated: Mar 6 2022

Neurofibromatosis Type 1 (Von Recklinghausen Disease)

  • Snapshot
    • 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.
  • Introduction
    • Definition
      • an autosomal dominant disorder that can present with
        • café au lait macules
        • neurofibromas
        • Lisch nodules
        • axillary and inguinal freckling
        • pheochromocytoma
        • optic glioma 
  • Etiology
    • Pathophysiology
      • mutated NF1 gene insufficiently creates neurofibromin, a tumor suppressor
        • this, in turn, dysregulates cell growth and development
    • Genetics
      • autosomal dominant mutation in NF1 gene on chromosome 17
        • complete penetrance but variable expression
  • Presentation
    • Physical exam
      • café au lait macules
        • typically by age 2
      • axillary or inguinal freckling
        • typically by age 3-5
      • cutaneous neurofibromas
      • Lisch nodules
  • Studies
    • Preventative
      • prenatal testing
  • Differential
    • Neurofibromatosis type 2
      • differentiating factors
        • mutation in NF2 gene on chromosome 22
        • findings include
          • bilateral acoustic schwannomas
          • juvenile cataracts
          • meningiomas
          • ependymomas
    • Making the diagnosis
      • clinical diagnosis typically made in children
      • genetic counseling
  • Treatment
    • Treatment is targeted to the clinical manifestations
      • e.g., surgical removal with discrete neurofibromas
  • Complications
    • Increased risk of malignancy
  • Prognosis
    • Associated with increased mortality
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