A case study of a 10-year-old child with Ehlers Danlos syndrome alongside hematoma and cellulitis at the left lower limb

Abstract

A 10-year-old child was admitted with a soft, non-tender, fluctuant swelling over the left lower limb following minimal trauma at school, complicated by overlying cellulitis. The patient had a history of joint hypermobility for one year and easy bruising for six years after trivial injuries. Examination revealed numerous atrophic scars, skin hyperextensibility of 1.5 cm, and a Brighton hypermobility score of 9/9, confirming generalized joint hypermobility. Classical features included elbow and knee hyperextension >10°, fifth metacarpophalangeal joint extension >90°, thumb-to-forearm opposition, and positive Gorlin’s sign. Growth parameters were normal, with an arm span-to-height ratio of 0.95 and upper-to-lower segment ratio of 0.85. A diagnosis of Ehlers-Danlos syndrome (EDS) with secondary hematoma and cellulitis was made. Laboratory tests, including blood counts and coagulation profiles, excluded bleeding disorders, while chest X-ray and echocardiography were performed to assess systemic involvement. Management was multidisciplinary: physiotherapy for joint stabilization, hydrotherapy for muscle strengthening, vitamin C supplementation to enhance collagen synthesis, and psychological and genetic counseling. Due to risks of aortic root dilatation and mitral valve disease, regular cardiac monitoring was initiated. The patient improved with conservative therapy, cellulitis resolved, and functional status improved. Long-term follow-up included annual echocardiography, orthopedic review, and genetic counseling. This case highlights the importance of recognizing connective tissue disorders like EDS in children presenting with unexplained bruising, poor wound healing, and skin changes, as early diagnosis and comprehensive management are essential to improve outcomes and prevent complications.