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