Hermansky-Pudlak syndrome with colitis and pulmonary fibrosis

Authors
Sandberg-Gertzen, H Eid, R Jarnerot, G
Citation
H. Sandberg-gertzen et al., Hermansky-Pudlak syndrome with colitis and pulmonary fibrosis, SC J GASTR, 34(10), 1999, pp. 1055-1056
Citations number
6
Categorie Soggetti
Gastroenerology and Hepatology","da verificare
Journal title
SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY
ISSN journal
00365521 → ACNP
Volume
34
Issue
10
Year of publication
1999
Pages
1055 - 1056
Database
ISI
SICI code
0036-5521(199910)34:10<1055:HSWCAP>2.0.ZU;2-T
Abstract
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessively inherited d isease with oculocutaneous albinism, hemorrhagic diathesis, and multisystem ic deposition of ceroid lipofuscin. We report a case with all symptoms char acteristic of HPS. The patient was a mentally retarded albino with mild ble eding diathesis, and her course was complicated by granulomatous colitis re fractory to medical treatment and progressive, fatal pulmonary fibrosis.