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 Citations (Scopus)

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

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Hermanski-Pudlak Syndrome
Ceroid
Albinism
Melanosomes
Skin
Mononuclear Phagocyte System
Disease Susceptibility
Macrophages
Electrons
Hemorrhage

ASJC Scopus subject areas

  • Dermatology

Cite this

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.

Hermansky-Pudlak syndrome : Case report and clinicopathologic review. / Schachne, J. P.; Glaser, N.; Lee, S.; Kress, Y.; Fisher, M.

In: Journal of the American Academy of Dermatology, Vol. 22, No. 5 II SUPPL., 1990, p. 926-932.

Research output: Contribution to journalArticle

Schachne, JP, Glaser, N, Lee, S, Kress, Y & Fisher, M 1990, 'Hermansky-Pudlak syndrome: Case report and clinicopathologic review', Journal of the American Academy of Dermatology, vol. 22, no. 5 II SUPPL., pp. 926-932.
Schachne JP, Glaser N, Lee S, Kress Y, Fisher M. Hermansky-Pudlak syndrome: Case report and clinicopathologic review. Journal of the American Academy of Dermatology. 1990;22(5 II SUPPL.):926-932.
Schachne, J. P. ; Glaser, N. ; Lee, S. ; Kress, Y. ; Fisher, M. / Hermansky-Pudlak syndrome : Case report and clinicopathologic review. In: Journal of the American Academy of Dermatology. 1990 ; Vol. 22, No. 5 II SUPPL. pp. 926-932.
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