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Ehlers-Danlos syndrome
From WikEM
Contents
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
Evaluation
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
