Hermansky-Pudlak syndrome with colitis and pulmonary fibrosis.
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.
Sandberg-Gertzén
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Pulmonary Dept., Orebro Medical Center Hospital, Sweden.
Eid
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Järnerot
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D000328:Adult; D016115:Albinism, Oculocutaneous / Q000150:complications* / Q000175:diagnosis*; D003093:Colitis, Ulcerative / Q000150:complications* / Q000175:diagnosis; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D011658:Pulmonary Fibrosis / Q000150:complications* / Q000175:diagnosis