Hyperpigmentation in Chediak-Higashi syndrome

Abstract

We describe a 4 1/2 -year-old Saudi Arabian boy born to consanguineous parents who was initially seen with gradual onset of fever and abdominal distention. The patient was found to have speckled hypopigmentation and hyperpigmentation of the sun-exposed areas. The finding of large cytoplasmic granules in blood and bone marrow leukocytes established the diagnosis of Chediak-Higashi syndrome. We review the literature on this finding, which might be underreported, especially in darkly pigmented races.