Ehlers-Danlos syndrome

Background

• Hereditary connective tissue disorder
• Six types: Classic, hypermobility, vascular, kyphoscoliosis, arthrochalasia, dermatosparaxis

Clinical Features

• Hyper-extensible skin, classically "doughy" or "velvety"
• Hypermobile joints
• Tissue fragility and poor wound healing

Increased risk of:

• Thoracic and abdominal aortic aneurysm
• Mitral valve prolapse
• Spontaneous pneumothorax
• Myopia and retinal detachment
• Premature degenerative arthritis

Differential Diagnosis

• Marfan syndrome
• Cutis laxa
• Loeys-Dietz syndrome
• Osteogenesis imperfecta
• Larsen Syndrome
• Stickler syndrome
• Arteria tortuosity syndrome

Management

• Cardiac evaluation to screen for valvular disease, vascular disease, and aortic aneurysm
• Ophthalmologic evaluation to screen for myopia, retinal detachment, and glaucoma
• Monitoring of skin fragility, wound healing, easy bruising

See Also

• Connective tissue disorder