The Hermansky-Puklak syndrome is an autosomal recessive disorder consisting of the triad of albinism, a bleeding diathesis, and ceroid deposition within the reticuloendothelial system. In this study of a patient with Hermansky-Pudlak syndrome, we demonstrate the presence of ceroid within dermal macrophages. Electron microscopic studies suggest that melanosomes may be a substrate for the formation of ceroid in the skin. A review of the clinical and pathophysiologic features of this disorder is presented.
|Original language||English (US)|
|Number of pages||7|
|Journal||Journal of the American Academy of Dermatology|
|Issue number||5 II SUPPL.|
|State||Published - 1990|
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