Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations

Manuela Loredana Asztalos*, Kristian T Schafernak, Jayla Gray, Adam Berry, Amy S. Paller, Anthony J. Mancini

*Corresponding author for this work

Research output: Contribution to journalReview article

5 Scopus citations

Abstract

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder caused by mutations in one of nine genes involved in the packaging and formation of specialized lysosomes, including melanosomes and platelet-dense granules. The cardinal features are pigmentary dilution, bleeding diathesis, and accumulation of ceroid-like material in reticuloendothelial cells. Pulmonary fibrosis induced by tissue damage is seen in the most severe forms, and one subtype is characterized by immunodeficiency. We describe two patients with HPS type 1 and review the updated gene-based classification, clinical features, and recommendations for evaluation and follow-up.

Original languageEnglish (US)
Pages (from-to)638-646
Number of pages9
JournalPediatric Dermatology
Volume34
Issue number6
DOIs
StatePublished - Nov 1 2017

Keywords

  • adaptor protein 3
  • beta 1 subunit
  • biogenesis of lysosome-related organelles complex
  • chediak-higashi syndrome
  • dystrobrevin binding protein 1
  • griscelli syndrome
  • Hermansky-Pudlak syndrome
  • lysosome-related organelles
  • oculocutaneous albinism
  • platelet dense granules

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Dermatology

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