Hermansky-Pudlak Syndrome with Colitis and Pulmonary Fibrosis
- 1 January 1999
- journal article
- Published by Taylor & Francis Ltd in Scandinavian Journal of Gastroenterology
- Vol. 34 (10), 1055-1056
- https://doi.org/10.1080/003655299750025183
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.Keywords
This publication has 2 references indexed in Scilit:
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