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Hermansky-Pudlak syndrome: case report and clinicopathologic review.

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.
AuthorsJ P Schachne, N Glaser, S H Lee, Y Kress, M Fisher
JournalJournal of the American Academy of Dermatology (J Am Acad Dermatol) Vol. 22 Issue 5 Pt 2 Pg. 926-32 (May 1990) ISSN: 0190-9622 [Print] United States
PMID2186061 (Publication Type: Case Reports, Journal Article, Review)
Chemical References
  • Ceroid
Topics
  • Albinism (pathology)
  • Ceroid
  • Female
  • Fibrosis
  • Hemorrhagic Disorders (pathology)
  • Humans
  • Macrophages (ultrastructure)
  • Middle Aged
  • Mononuclear Phagocyte System (ultrastructure)
  • Puerto Rico
  • Skin (ultrastructure)
  • Syndrome

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