CHEDIAK-HIGASHI SYNDROME.

Abstract

Chediak-Higashi syndrome is a lethal systemic disease associated with oculocutaneous albinism, which means that we must revise our concept of albinism as a benign affliction. A search of the literature reveals that 32 out of 34 patients reported probably were true albinos. Our histopathologic examinations of skin taken from the case presented give results which are compatible with albinism—ie, a negative stain for melanin with hematoxylin and eosin and silver nitrate, but with an occasional dihydroxyphenylalanine (dopa)-positive or tyrosinase-positive cell. Electron microscopic examination of the epithelial cells showed vacuolar and mitochondrial degeneration consistent with a picture of tissue injury due to trauma. It is apparent, then, that some cases of albinism are associated with a lethal granular leukocytic disease, a homozygous state transmitted as an autosomal recessive genetic defect. For this reason, blood smears taken from albino infants and children should be examined carefully for these peculiar granulations.