Chediak-Higashi syndrome in a black child

Chediak-Higashi syndrome (CHS) is an uncommon genetic disorder with a constellation of clinical, pathologic, and immunologic manifestations. It is rarely reported in blacks. Pathognomonic intracellular inclusions in white blood cells are well recognized; however, characteristic abnormal melanin aggregation into giant melanosomes also occurs, as can be readily seen by histologic evaluation of hair. We present a case of CHS in a black child.