A 45-year-old woman with Ehlers-Danlos syndrome caused by dermatan 4-o-sulfotransferase-1 deficiency: Implications for early ageing

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders characterized by joint and skin laxity and tissue fragility (1). Dermatan 4-O-sulfotransferase-1 (D4ST1) deficiency, a recently delineated form of EDS caused by bi-allelic loss-offunction mutations in the carbohydrate sulfotransferase 14 gene (CHST14), is clinically characterized by multiple congenital malformations (craniofacial abnormalities, multiple congenital contractures, congenital heart/eye/ gastrointestinal defects) and progressive fragility-related manifestations (skin hyperextensibility and fragility, large subcutaneous haematomas, recurrent dislocations, progressive skeletal deformities) (2). Biochemical and pathological investigations on patients’ skin specimens suggest multisystem fragility caused by impaired assembly of collagen fibrils resulting from dermatan sulphate (DS) depletion in the decorin glycosaminoglycan (GAG) side chain (2). The disorder is currently called “EDS musculocontractural type 1” (MIM#601776) or “D4ST1-deficient EDS” (2). We report here a 45-yearold Japanese woman with the disorder.