Pseudoxanthoma elasticum: A review of 86 cases in China

Yan Li; Yazhou Cui; Heng Zhao; Chao Wang; Xiao Liu; Jinxiang Han

doi:10.5582/irdr.2014.01011

Pseudoxanthoma elasticum: A review of 86 cases in China

Intractable Rare Dis Res. 2014 Aug;3(3):75-8. doi: 10.5582/irdr.2014.01011.

Authors

Yan Li¹, Yazhou Cui², Heng Zhao¹, Chao Wang¹, Xiao Liu¹, Jinxiang Han²

Affiliations

¹ Key Laboratory for Biotech Drugs of the Ministry of Health, Key Laboratory for Rare Disease of Shandong Province, Shandong Medicinal Biotechnology Center, Shandong Academy of Medical Sciences, Ji'nan, Shandong, China; ; School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Science, Ji'nan, Shandong, China.
² Key Laboratory for Biotech Drugs of the Ministry of Health, Key Laboratory for Rare Disease of Shandong Province, Shandong Medicinal Biotechnology Center, Shandong Academy of Medical Sciences, Ji'nan, Shandong, China;

Abstract

Pseudoxanthoma elasticum (PXE) is a type of rare hereditary disease that affects connective tissue. PXE is found around the world, and its epidemiology in China is still unclear. A database search revealed that 86 patients in total were reported in China from 1985 to 2013. The vast majority of these reports concern single, sporadic cases. This review summarizes the clinical characteristics of PXE and its treatment in China. The hope is to provide a reliable basis for studies on the incidence of PXE and for formulation of relevant policies in the future.

Keywords: Rare diseases; clinical features; literature search; prevalence.

Publication types

Review