Hermansky-Pudlak syndrome (HPS5) in a nonagenarian

Alexander L. Ringeisen, Lisa A. Schimmenti, James G. White, Cheri Schoonveld, C. Gail Summers

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)334-336
Number of pages3
JournalJournal of AAPOS
Volume17
Issue number3
DOIs
StatePublished - Jun 2013

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