Hermansky-Pudlak syndrome with granulomatous colitis

R. A. Schinella, M. A. Greco, B. L. Cobert, L. W. Denmark, R. P. Cox

Research output: Contribution to journalArticle

123 Scopus citations

Abstract

The Hermansky-Pudlak syndrome consists of tyrosine-positive albinism, a defect in the second phase of platelet aggregation, and widespread accumulation of a ceroid-like pigment in tissue. Pulmonary fibrosis has also been reported. In this paper, we describe two families with documented Hermansky-Pudlak syndrome in which four members, two from each family, developed granulomatous colitis. This adds another disease entity to those associated with this syndrome. We discuss possible connecting links between these disease expressions.

Original languageEnglish (US)
Pages (from-to)20-23
Number of pages4
JournalAnnals of internal medicine
Volume92
Issue number1
DOIs
StatePublished - Jan 1 1980

ASJC Scopus subject areas

  • Internal Medicine

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