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- Title
Hermansky-Pudlak syndrome with colitis and pulmonary fibrosis.
- Authors
Sandberg-Gertzén, H; Eid, R; Järnerot, G
- 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.
- Publication
Scandinavian journal of gastroenterology, 1999, Vol 34, Issue 10, p1055
- ISSN
0036-5521
- Publication type
Journal Article
- DOI
10.1080/003655299750025183