Chediak-Higashi syndrome is rare, inherited disease of the immune and nervous systems characterized by pale-colored hair, eyes, and skin.
Overview, Causes, & Risk Factors
Chediak-Higashi is inherited, which means it is passed down through families. It is an autosomal recessive disease. This means that both parents must contribute a faulty gene for the child to show symptoms of the disease.
Mutations have been found in the CHS1 (also called LYST) gene. The primary defect in this disease is found in certain granules normally present in skin cells and certain white blood cells.
For example, in people with this disease, a skin granule that normally contains melanin is not made properly, resulting in decreased skin color (pigmentation). A defect in granules found in certain types of white blood cells causes immune system problems.
Review Date : 8/26/2009
Reviewed By : Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.