Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.

J AAPOS. 2013 Jun;17(3):334-6. Epub 2013 Apr 19

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摘要

Hermansky-Pudlak syndrome (HPS) is an autosomal-recessive disorder clinically characterized by oculocutaneous albinism, bleeding diatheses, and lysosomal accumulation of ceroid lipofuscin, which in some cases may cause granulomatous colitis and pulmonary fibrosis. Any of these complications could result in a shortened life span for patients with HPS. We report a 92-year-old man with HPS 5 who, to our knowledge, is the oldest patient with HPS documented in the literature. This report highlights the importance of typing HPS to counsel patients regarding disease prognosis.

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Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.

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