Chediak-Higashi syndrome: hereditary gigantism of cytoplasmic organelles.
In the Chediak-Higashi syndrome, an anomalous hypopigmentation is associated with large lysosomal granules in the blood leukocytes. Since the inheritance pattern is that of an autosomal recessive trait, we postulated a common mechanism for these two primary features of the disease. Electron microscopy of melanocytes revealed that the pigmentary anomaly is indeed based on giant melanosomes. Since both types of granules, leukocytic and melanosomal, are characterized by limiting membranes, Chediak-Higashi disease may be a genetic disease of membranes.
D002648:Child; D003594:Cytoplasmic Granules; D005260:Female; D006197:Hair / Q000473:pathology; D006801:Humans; D007962:Leukocytes / Q000473:pathology; D008854:Microscopy, Electron; D010859:Pigmentation Disorders / Q000235:genetics* / Q000473:pathology*