ISSN: 2574-7800
Authors: Da Wang and Marinus CG van Praag*
Introduction: Ehlers-Danlos syndrome (EDS) of the hypermobility type is characterized by hyperextensibility of the skin, hypermobility of joints and skin fragility leading to easy bruising and delayed wound healing with atrophic scarring. Unfortunately, EDS remains often unrecognized. Case Report: We report a 54-year old Caucasian woman who presented at our clinic with bruises on both legs without any trauma in advance. Careful anamnesis revealed a tendency to bruising, delayed wound healing, hypermobility of the joints, myalgia and arthralgia. As a child she often dislocated her joints after which she was able to reposition them herself. She had a slow motoric development. In the past, she had multiple rib contusions and a rib fracture after minor physical activities. Physical examination showed a normal posture. The skin was soft and mild stretchable with stretch marks and hypertrophic scarring in certain areas of the body. On both upper legs there are signs of hematomas. She has a Beighton score of 6/9. After reviewing the guidelines of diagnosing EDS of the hypermobility type, she met all the criteria. DNA tests for other types of EDS and connective tissue related diseases were negative. We referred her to the rehabilitation specialist for guidance. Conclusion: A huge delay in the diagnosis of EDS of the hypermobility type is often seen. By reporting this case, we would like to raise awareness for this disease in order to shorten the delay in diagnosis and in consequence offering patients the adequate treatment.
Keywords: Ehlers-danlos syndrome; Hypermobilitiy
