A novel variant of Ehlers‐Danlos‐syndrome with <i>COL1A2</i> mutation

A 22-year-old woman presented with translucent skin and prominently visible vessels (Figure 1). The patient had a history of morphea diagnosed in childhood. Genetic testing revealed a novel, heterozygous variant in the COL1A2 gene (HGVS c.:NM_000089.4:c.3676G>A), with predicted consequence on protein level as substitution of valine to isoleucine (HGVS p.:NP_000080.2:p.Val1226Ile). While classical vascular Ehlers-Danlos syndrome (EDS) is caused by COL3A1 mutations, a diagnosis of vascular EDS was established based on combination of the detected mutation and characteristic clinical presentation. A thorough work-up showed minimal left ventricular hypertrophy but no other signs of cardiac or vascular pathology. A potential connection between morphea and the detected COL1A2 variant is unknown. Genetic testing of first-grade relatives is ongoing, and the patient remains closely monitored. Prominently visible vessels of the upper part of the body, in particular in young patients, should raise the suspicion of vascular EDS. Open Access funding provided by Medizinische Universitat Wien/KEMÖ. The authors have nothing to report. The authors declare no conflicts of interest. The authors have nothing to report. Data sharing is not applicable to this article as no datasets were generated or analysed during the current study.