Hermansky-Pudlak syndrome: Case report and clinicopathologic review

J. P. Schachne, N. Glaser, S. Lee, Y. Kress, M. Fisher

Research output: Contribution to journalArticle

12 Scopus citations

Abstract

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 languageEnglish (US)
Pages (from-to)926-932
Number of pages7
JournalJournal of the American Academy of Dermatology
Volume22
Issue number5 II SUPPL.
StatePublished - 1990

ASJC Scopus subject areas

  • Dermatology

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    Schachne, J. P., Glaser, N., Lee, S., Kress, Y., & Fisher, M. (1990). Hermansky-Pudlak syndrome: Case report and clinicopathologic review. Journal of the American Academy of Dermatology, 22(5 II SUPPL.), 926-932.