Ehlers-Danlos syndrome: type VI A - kyphoscoliosis; a case report

Ehlers-Danlos syndrome (EDS) is a clinically heterogeneous group of inherited disorders with ten different types, all involving a genetic defect in collagen and connective-tissue synthesis and structure that affecting the skin, joints, and blood vessels. EDS type VIA, a very rare kyphoscoliotic type, is autosomal recessive and clinically characterized by soft extensible skin, laxity of joints and kyphoscoliosis. We present a case of an adult male patient complaining of recurrent acne over the chin, axilla and pyoderma in the groin region since he was 14 years of age. Past medical history was positive for recurrent pyoderma which healed with scarring, bleeding tendency, double vision and backache. On examination, the patient had hyperextensible skin, joint hypermobility, kyphoscoliosis, easy bruisability, and scleral fragility. Urinary analysis revealed a decrease in the hydroxylysylpyidinoline to lysl-pyridinoline ratio indicative of EDS type VIA with a severely reduced Lysyl Hydroxylase (LH) activity in the skin fibroblast culture..