J Korean Neurol Assoc.
2000 Jul;18(4):515-517.
A Case of Ehlers-Danlos Syndrome Presenting with Neurological Symptoms
- Affiliations
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- 1Department of Neurology, Kosin University College of Medicine.
- 2Department of Dermatology, Kosin University College of Medicine.
Abstract
- Ehlers-Danlos syndrome (EDS) is an inherited connective tissue disorder characterized by fragility of the skin, hyperelasticity of the skin, hyperextensible joints, vascular lesions, easy bruising, and excessive scarring after injuries. Some patients with EDS have neurological symptoms and signs, such as muscular hypotonia, muscular atrophy, spin-ocerebellar tract degeneration, cerebral atrophy, mental retardation, and epilepsy. We report a 16-year-old man who showed mental retardation, hyperelasticity of the skin, joint hypermobility, and muscular atrophy on the bilateral hand muscles. A skin biopsy revealed dermal thickening, a decrease in the density and number of collagen fibrils, distur-bances of the wickerwork pattern, and a disproportional increase in the number of elastic fibers.
