Intractable Rare Dis Res. 2014;3(3):75-78. (DOI: 10.5582/irdr.2014.01011)

Pseudoxanthoma elasticum: A review of 86 cases in China.

Li Y, Cui YZ, Zhao H, Wang C, Liu X, Han JX


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, prevalence, clinical features, literature search

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