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Updated: Jan 25 2019


  • Snapshot
    • A 10-year-old boy presents to his pediatrician's office for the first time since birth. His mom is concerned about how easily he gets sunburned. On physical exam, he has several healing sunburns on his face, neck, and arms. He has blue eyes, strabismus, and white hair. His skin is white with a tinge of pink.
  • Introduction
    • Clinical definition
      • hereditary defect in pigmentation
    • Pathogenesis
      • normal number of melanocytes with ↓ production of melanin
      • ↓ tyrosinase activity or defective tyrosine transport
        • recall that melanin is formed from tyrosine
    • Genetics
      • inheritance pattern
        • autosomal recessive
    • Associated conditions
      • skin cancer
      • Chediak-Higashi syndrome
    • Prognosis
      • patients generally live normal lives but are at increased risk for skin cancer
  • Presentation
    • Symptoms
      • may have ocular symptoms, such as photophobia or blurry vision
    • Physical exam
      • skin
        • white hair without any pigment
        • white or pink skin color
        • blue eyes
        • pink-red nevi
        • solar keratosis
      • ocular
        • impaired visual acuity
        • nystagmus
        • strabismus
  • Studies
    • Labs
      • genetic testing to confirm diagnosis
  • Differential
    • Vitiligo
  • Treatment
    • Conservative
      • sunscreen, sunglasses, and avoid sun exposure
        • indication
          • for all patients in an attempt to prevent skin cancer or sunburns
    • Operative
      • vision correction surgery
        • may be indicated in cases of severe nystagmus
  • Complications
    • Skin cancer
    • Severe sunburns
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