Chediak-Higashi syndrome is a rare autosomal recessive disorder of the hematopoietic and pigmentary systems which is invariably fatal, usually before age 10. Most of the affected children are products of consanguineous matings, though this is not always the case. The principal manifestations are oculocutaneous albinism and the occurrence of peculiar large granules in the peripheral leukocytes. The systemic consequences of the disease are recurrent infections, enlargement of the liver and spleen, and death due to overwhelming infection or hemorrhage.
In the past, the few reports of Chediak-Higashi syndrome have been by hematologists who have studied the blood dyscrasia. In the January issue of the Archives of Dermatology,1 Stegmaier and Schneider present a case and the preliminary results of electron-microscopic examinations of skin specimens taken from a patient with this illness.
Awareness of the possibility of Chediak-Higashi syndrome in any albino patient is important to dermatologists. Albinism has heretofore been
CHEDIAK-HIGASHI SYNDROME. JAMA. 1965;191(2):132. doi:10.1001/jama.1965.03080020060022
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