Hermansky-Pudlak Syndrome and Genetic Diagnosis

Hermansky-Pudlak Syndrome (HPS) is genodermatosis, which is one of syndromic Oculo-Cutaneous 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. In Juntendo university hospital, 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 diagnosis by genetic test and early treatment is important.