Hermansky-Pudlak syndrome with granulomatous colitis
RA SCHINELLA, MA GRECO, BL COBERT… - Annals of internal …, 1980 - acpjournals.org
RA SCHINELLA, MA GRECO, BL COBERT, LW DENMARK, RP COX
Annals of internal medicine, 1980•acpjournals.orgThe Hermansky-Pudlak syndrome consists of tyrosine-positive albinism, a defect in the
second phase of platelet aggregation, and widespread accumulation of a ceroidlike 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 …
second phase of platelet aggregation, and widespread accumulation of a ceroidlike 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 …
The Hermansky-Pudlak syndrome consists of tyrosine-positive albinism, a defect in the second phase of platelet aggregation, and widespread accumulation of a ceroidlike 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.
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