Hermansky-Pudlak syndrome: case report and clinicopathologic review

J Am Acad Dermatol. 1990 May;22(5 Pt 2):926-32. doi: 10.1016/0190-9622(90)70128-5.

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Albinism / pathology*
  • Ceroid
  • Female
  • Fibrosis
  • Hemorrhagic Disorders / pathology*
  • Humans
  • Macrophages / ultrastructure
  • Middle Aged
  • Mononuclear Phagocyte System / ultrastructure*
  • Puerto Rico
  • Skin / ultrastructure
  • Syndrome

Substances

  • Ceroid