๐ ็ธฝ็ฎ้ ๏ฝ ๐ ่ฑๆๅๆ๏ผๆฌ็ฏ๏ผ ๏ฝ ๐ ๅฎๆด็ฟป่ญฏ ๏ฝ โญ ็ฒพ่ฏ็ญ่จ
Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome
Pathogenesis Affected individuals are tyrosinase positive. The disease is caused by mutations in the tyrosinase-related protein 1 (TRP1), an important enzyme in melanin synthesis.30 The mutation results in delayed maturation and early degradation of tyrosinase. Electron microscopy examination reveals smaller melanosomes, aggregates of melanosomes within keratinocytes, and increase in pheomelanin synthesis.31