A case of Ehlers–Danlos syndrome presenting with widened atrophic scars of forehead elbow knee and pretibial area

摘要

Rational:Ehlers–Danlos syndrome (EDS) is a heritable connective tissue disorder. Currently, the genotype-phenotype correlations of classical EDS (cEDS) are still controversial. Hence, this study reported a case of cEDS with both clinical manifestations and COL5A2 gene mutation.