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Scand J Gastroenterol. 1999 Oct;34(10):1055-6.

Hermansky-Pudlak syndrome with colitis and pulmonary fibrosis.

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  • 1Pulmonary Dept., Orebro Medical Center Hospital, Sweden.

Abstract

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessively inherited disease with oculocutaneous albinism, hemorrhagic diathesis, and multisystemic deposition of ceroid lipofuscin. We report a case with all symptoms characteristic of HPS. The patient was a mentally retarded albino with mild bleeding diathesis, and her course was complicated by granulomatous colitis refractory to medical treatment and progressive, fatal pulmonary fibrosis.

PMID:
10563678
[PubMed - indexed for MEDLINE]
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