Mixed hyperpigmentation and hypopigmentation of iris and choroid in Chediak-Higashi syndrome.

An 8-year-old Taiwanese girl presented with hyperpigmentation and scattered hypopigmentation in her irides and choroids. Her skin showed hyperpigmentation with speckled hypopigmentation over cheeks and sun-exposed areas. Medical history was remarkable for frequent infectious episodes and lower extremity bruising. A peripheral blood smear revealed large inclusion bodies in the cytoplasm of neutrophils. The patient was diagnosed with Chediak-Higashi syndrome and continues to be monitored closely.