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Article in Japanese
Abstract
Case Report
A case of Hermansky-Pudlak syndrome with repeated intractable pneumothorax
Saori Kirishi Takehiro Izumo Miyuki Nagaoka Etsuko Tagaya Jun Tamaoki Atsushi Nagai
First Department of Medicine, School of Medicine, Tokyo Women’s Medical University
ABSTRACT
A 59-year-old man had suffered from oculocutaneous albinism along with a bleeding disorder since childhood, and he was diagnosed with interstitial lung disease at the age of 55. He was referred to this hospital for consultation. Steroid treatment was initiated at the age of 57. Subsequently, the patient was in and out of the hospital 4 times with pneumothorax, and upon his fifth admission to the hospital he was diagnosed with Hermansky-Pudlak syndrome (HPS) as a result of his bleeding disorder, oculocutaneous albinism, and pulmonary disease. HPS is a disease involving the triad of oculocutaneous albinism, a bleeding disorder caused by secondary inhibition of platelet aggregation and deposition of ceroid-like lipofuscin to reticuloendothelial cells, with approximately 100 cases having been reported in Japan. Of these, only 2 cases have been reported as having repeated pneumothorax, and so this was believed to be a rare case.
KEYWORDS
Hermansky-Pudlak syndrome Intractable pneumothorax Oculocutaneous albinism Storage pool deficiency
Received 21 Jun 2011 ／ Accepted 26 Sep 2011
AJRS, 1(2): 146-150, 2012
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