title: Mixed hyperpigmentation and hypopigmentation of iris and choroid in Chediak-Higashi syndrome.
abstract: 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.
authors.affiliation: Department of Ophthalmology, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, New Taipei, Taiwan.
authors.forename: Min-Chieh
authors.initials: MC
authors.lastname: Ho
authors.forename: Yi-Ting
authors.initials: YT
authors.lastname: Hsieh
mesh_terms: D002609:Chediak-Higashi Syndrome / Q000473:pathology*; D002648:Child; D015862:Choroid Diseases / Q000473:pathology*; D005260:Female; D006801:Humans; D017495:Hyperpigmentation / Q000473:pathology*; D017496:Hypopigmentation / Q000473:pathology*; D007499:Iris Diseases / Q000473:pathology*