Article
Hermansky-Pudlak syndrome with a novel genetic variant in HPS1 and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases.
Thorax - 1 Nov 2018
McElvaney Oliver J, Huizing Marjan, Gahl William A, O'Donovan Paul, Horan Deirdre, Logan P Mark, Reeves Emer P, McElvaney Noel G
Abstract excerpt
The Hermansky-Pudlak syndrome (HPS) is a collection of autosomal-recessive disorders characterised by tyrosinase-positive oculocutaneous albinism (OCA), bleeding diatheses and, in selected individuals, early-onset accelerated pulmonary fibrosis, neutropaenia and granulomatous colitis. We describe a young man who presented following a self-directed literature review prompted by severe bleeding complications...
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