TY - JOUR ID - 98018 TI - Ehlers-Danlos syndrome: type VI A – kyphoscoliosis; a case report JO - Iranian Journal of Dermatology JA - IJD LA - en SN - AU - Vijay, Popat AU - Deval, Vora AU - Pratik, Patel AU - Pratibha, Maan AU - Vinita, Brahmbhatt AD - Y1 - 2012 PY - 2012 VL - 15 IS - 4 SP - 131 EP - 133 KW - collagen disorder KW - Ehlers-Danlos syndrome KW - genetic disorder KW - Kyphoscoliosis DO - N2 - Ehlers-Danlos syndrome (EDS) is a clinically heterogeneous groupof inherited disorders with ten different types, all involving agenetic defect in collagen and connective-tissue synthesis andstructure that affecting the skin, joints, and blood vessels. EDStype VIA, a very rare kyphoscoliotic type, is autosomal recessiveand clinically characterized by soft extensible skin, laxity ofjoints and kyphoscoliosis. We present a case of an adult malepatient complaining of recurrent acne over the chin, axilla andpyoderma in the groin region since he was 14 years of age. Pastmedical history was positive for recurrent pyoderma whichhealed with scarring, bleeding tendency, double vision andbackache. On examination, the patient had hyperextensible skin,joint hypermobility, kyphoscoliosis, easy bruisability, and scleralfragility. Urinary analysis revealed a decrease in the hydroxylysylpyidinolineto lysl-pyridinoline ratio indicative of EDS type VIAwith a severely reduced Lysyl Hydroxylase (LH) activity in theskin fibroblast culture.. UR - https://www.iranjd.ir/article_98018.html L1 - https://www.iranjd.ir/article_98018_76170b94f8867ba30acd0efa4981a7d2.pdf ER -