2021 Volume 67 Issue 3 Pages 282-286
Hermansky-Pudlak syndrome (HPS) is genodermatosis, which is one of syndromic oculocutaneous albinism (OCA). OCA categorizes 9 genes, and patients with mutations in HPS1 gene have greater likelihood of pulmonary fibrosis and granulomatous colitis for their 40s.
A 49-year-old man was referred to our hospital as his chest CT image indicated abnormal shadow for his age. At birth, he had white skin, blond hair, and blue iris. And he had not visual power. He was also easy to bleed and had disfunction of platelet. Skin biopsy and genetic test indicated he was diagnosed as HPS definitely and had mutations in HPS1 variation on DNA (c.398+5 G>A, homozygote), which is already known. After 4 months from his hospitalization, his respiratory function became worsen. Otherwise he took pirfenidone, pulmonary fibrosis progressed and he died of dyspnea.
In our university, 39 patients had diagnosed as OCA during past 20 years. Only 5 patients were conducted gene analysis. 3 patients were OCA1B, and 2 patients were HPS1. In OCA patients, there are some gene mutations which onset serious complications. Early detection by gene test and early treatment is important.
