Prepared by Deepak Kumar, MD, Resident, Joshua E. Lane, MD, Clinical Assistant Professor, and
David E. Kent, MD, Clinical Assistant Professor, Division of Dermatology, Department of Medicine,
Mercer University School of Medicine, Macon, Ga
An otherwise healthy 28-year-old man has had easily stretchable skin and hypermobile joints since early childhood. He did not bruise easily and had no family history of similar abnormalities. Physical examination showed extreme distensibility of his skin (Figure 1) and striking hypermobility of many joints, especially evident in the hands (Figure 2). These findings are diagnostic of Ehlers-Danlos syndrome.
Points to remember: Ehlers-Danlos syndrome represents a group of heritable disorders of connective tissue, most of which are autosomal dominant. Its characteristic features are easily stretchable skin, hypermobile joints, and spontaneous bleeding. Vessel walls become fragile, which can lead to easy bruisability, arterial aneurysms or dissection, arteriovenous malformations, and varicose veins. Diagnosis is made clinically, and treatment is symptomatic.
Diagnosis: Ehlers-Danlos syndrome.