Iranian Journal of Dermatology

   
 
Vol. 15, No. 62, Winter 2012
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Ehlers-Danlos syndrome: type VI A – kyphoscoliosis; a case report
Vijay Popat, Deval Vora, Pratik Patel, Pratibha Maan,Vinita Brahmbhatt

Contact Info: Vijay Popat, MD Department of Pathology, Shah Medical College, Jamnagar, India Email:drvijaypopat@yahoo.co.in


Date Received: 2011 / Dec / 02 Date Revised: 2011 / Dec / 02 Date Accepted: 2012 / Oct / 19

Abstract:
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..

Keywords: collagen disorder, Ehlers-Danlos syndrome, genetic disorder, kyphoscoliosis


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