2012/06/29 by Eric D. Shirley, Marlene DeMaio, Joanne Bodurtha · 2 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Connective tissue disorders research #Dermatological and Skeletal Disorders #Shoulder Injury and Treatment #Joint hypermobility #Ehlers–Danlos syndrome #Medicine #Scars #Connective tissue #Dermatology #Surgery #Pathology #Physical therapy
paper · doi:10.1177/1941738112452385
openalex publication_date 2012/06/29 · openalex created_date 2016/06/24 · openalex updated_date 2026/07/28
Ehlers-Danlos syndrome is a heterogeneous connective tissue condition characterized by varying degrees of skin hyperextensibility, joint hypermobility, and vascular fragility. Joint dislocations, musculoskeletal pain, atrophic scars, easy bleeding, vessel/viscera rupture, severe scoliosis, and obstetric complications may occur. These manifestations are secondary to abnormal collagen, with specific molecular defects in types I, III, and V collagen; they may also be related to tenascin-X, which has been identified in some patients. Ehlers-Danlos syndrome has been classified into 6 types, with variable degrees of joint instability, skin hyperextensibility, wound healing difficulty, and vascular fragility. Diagnosis begins with recognition of the signs and symptoms of global hypermobility and referring appropriate patients for genetic consultation. It is important to accurately identify patients with Ehlers-Danlos syndrome to initiate appropriate musculoskeletal treatment, optimize anesthetic and postoperative management, perform appropriate vascular screening, and help families address their concerns with other families and advocacy groups.