FOP in China and Japan: An overview from domestic literatures

摘要

FOP is an autosomal dominant disorder, characterized by progressive ectopic ossification leading to devastating physical disabilities and malformation of the great toe and occasionally of the thumb. It is known that an activating mutation of ACVR1 is responsible for FOP. FOP is a rare disorder with incidence of 1/2,000,000 [Connor and Evans, 1982a,b]. China has a population of more than 1.3 billion, and Japan has about 0.13 billion people. Although the FOP case reports published in China and Japan might provide valuable information for this rare disease considering their large populations, most cases were published in medical journals of their own respective languages. In order to obtain the information of FOP patients reported in Chinese and Japanese, we summarized the FOP case reports published in China and Japan and analyzed the similarities and differences of the Chinese and Japanese patients to compare their characteristics with those of reports published in international journals.