Ehlers-Danlos syndrome presenting as rheumatic manifestations in the child.
Nine patients with Ehlers-Danlos syndrome (EDS) presented with joint complaints. This represented 5% of the new pediatric arthritis patients seen over a 6-month period. All 9 patients had a history of double-jointedness, and 7 had arthralgias associated with increased physical activity. On physical examination all had hypermobile joints, 7 had joint tenderness, but none had joint swelling. Based on the presence of other features including hyperextensible skin, widened scars, and cardiac clicks and murmurs, 8 were categorized as EDS Type II and 1 as EDS Type III. It posed a significant problem because the diagnosis had not been previously entertained before consultation and erroneous diagnosis had been made. Therefore, EDS should be included in the differential diagnosis of polyarthralgia in the child.
D000293:Adolescent; D000328:Adult; D001171:Arthritis, Juvenile / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis* / Q000473:pathology; D005260:Female; D006801:Humans; D007592:Joint Diseases / Q000175:diagnosis; D008297:Male