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Hermansky-Pudlak syndrome: Case report and clinicopathologic review

Authors
Journal
Journal of the American Academy of Dermatology
0190-9622
Publisher
Elsevier
Publication Date
Volume
22
Issue
5
Identifiers
DOI: 10.1016/0190-9622(90)70128-5
Disciplines
  • Biology

Abstract

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.

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