title: Chediak-Higashi syndrome - a report of two cases with unusual hyperpigmentation of the face.
abstract: Chediak-Higashi syndrome is a rare autosomal recessive disorder due to a qualitative defect in leucocyte function characterized clinically by partial oculocutaneous albinism, recurrent bacterial infections, photophobia etc. The diagnostic feature is the presence of abnormal giant intracytoplasmic granules in neutrophils and their precursors. Here we report this syndrome in two siblings who presented with an unusual hyperpigmentation of the face and extremities.
authors.affiliation: Department of Pathology, Lady Hardinge Medical College, New Delhi, India. drmuktapujani@gmail.com
authors.forename: Mukta
authors.initials: M
authors.lastname: Pujani
authors.forename: Kiran
authors.initials: K
authors.lastname: Agarwal
authors.forename: Shashi
authors.initials: S
authors.lastname: Bansal
authors.forename: Israr
authors.initials: I
authors.lastname: Ahmad
authors.forename: Vandana
authors.initials: V
authors.lastname: Puri
authors.forename: Deepti
authors.initials: D
authors.lastname: Verma
authors.forename: Meenu
authors.initials: M
authors.lastname: Pujani
mesh_terms: D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D002609:Chediak-Higashi Syndrome / Q000150:complications / Q000175:diagnosis* / Q000473:pathology / Q000628:therapy; D002675:Child, Preschool; D003594:Cytoplasmic Granules / Q000473:pathology*; D017707:Erythrocyte Transfusion; D005121:Extremities; D005145:Face; D006801:Humans; D017495:Hyperpigmentation / Q000175:diagnosis* / Q000209:etiology / Q000473:pathology / Q000628:therapy; D008297:Male; D009504:Neutrophils / Q000473:pathology; D012880:Skin Pigmentation; D016896:Treatment Outcome
chemical_list: D000900:Anti-Bacterial Agents