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J Am Acad Dermatol. 1990 May;22(5 Pt 2):926-32.

Hermansky-Pudlak syndrome: case report and clinicopathologic review.

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1
Division of Dermatology, Albert Einstein College of Medicine, Bronx, NY 10461.

Abstract

The Hermansky-Pudlak 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.

PMID:
2186061
[Indexed for MEDLINE]
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