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Ehlers-Danlos Syndrome (EDS), a disorder affecting connective tissue, can be incapacitating in certain instances. This disorder is marked by varying levels of skin hyperextensibility, joint hypermobility, and vascular fragility. These symptoms of EDS stem from abnormal collagen, particularly involving types I, III, and V collagen. Complications include musculoskeletal pain, dislocations, atrophic scars, easy bleeding, vessel or viscera rupture, obstetric complications, and severe scoliosis. Accurate identification of EDS patients is crucial to initiate proper treatment. Herein we report a 5-year-old male with polyarthralgia, skin desquamation, hyperhidrosis, recurrent oral aphthosis, and diffuse abdominal pain. Physical exam showed joint hypermobility (Beighton score 6/9), skin hyperelasticity, and blue sclera, leading to a diagnosis of Ehlers-Danlos syndrome. He is undergoing analgesic treatment and functional rehabilitation.
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Lhamel et al. (2024) studied this question.
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