Dermatology online journal
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Dermatol. Online J. · Jul 2018
Retracted PublicationEhlers-Danlos syndrome caused by the c.934C>T, p. Arg312Cys mutation in COL1A1 gene: an Italian family without cardiovascular events.
Classic Ehlers-Danlos syndrome (cEDS) is characterized by skin hyperelasticity, joint hypermobility, increased tendency to bruise, and abnormal scarring. Mutations in type V collagen, a regulator of type I collagen fibrillogenesis, underlie this type of EDS. In this article we report a genetic and clinical analysis of an Italian family that carried missense mutation c.934 C>T (p. ⋯ Genetic screening conducted on Italian family members, revealed that vascular events are absent. In conclusion, genetic and clinical data confirm the extreme heterogeneity of EDS. Nevertheless, vascular events could be a risk factor and periodical clinical evaluation could be relevant.