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

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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
StatePublished - 1980

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Hermanski-Pudlak Syndrome
Crohn Disease
Ceroid
Albinism
Pulmonary Fibrosis
Platelet Aggregation
Tyrosine

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Schinella, R. A., Greco, M. A., Cobert, B. L., Denmark, L. W., & Cox, R. P. (1980). Hermansky-Pudlak syndrome with granulomatous colitis. Annals of Internal Medicine, 92(1), 20-23.

Hermansky-Pudlak syndrome with granulomatous colitis. / Schinella, R. A.; Greco, M. A.; Cobert, B. L.; Denmark, L. W.; Cox, R. P.

In: Annals of Internal Medicine, Vol. 92, No. 1, 1980, p. 20-23.

Research output: Contribution to journalArticle

Schinella, RA, Greco, MA, Cobert, BL, Denmark, LW & Cox, RP 1980, 'Hermansky-Pudlak syndrome with granulomatous colitis', Annals of Internal Medicine, vol. 92, no. 1, pp. 20-23.
Schinella RA, Greco MA, Cobert BL, Denmark LW, Cox RP. Hermansky-Pudlak syndrome with granulomatous colitis. Annals of Internal Medicine. 1980;92(1):20-23.
Schinella, R. A. ; Greco, M. A. ; Cobert, B. L. ; Denmark, L. W. ; Cox, R. P. / Hermansky-Pudlak syndrome with granulomatous colitis. In: Annals of Internal Medicine. 1980 ; Vol. 92, No. 1. pp. 20-23.
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