USMLE (Fach) / Biochemistry - Molecular, Cellular, Techniques (Lektion)
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Ehlers-Danlos syndrome
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Faulty collagen synthesis causing hyperextensible skin, tendency to bleed (easy bruising), and hypermobile joints.- Multiple types.- Inheritance and severity vary.- Can be autosomal dominant or recessive.
- May be associated with joint dislocation, berry and aortic aneurysms, organ rupture.
- Hypermobility type (joint instability): most common type.- Classical type (joint and skin symptoms): caused by a mutation in type V collagen (eg, COL5A1, COL5A2).- Vascular type (fragile tissues including vessels, muscles, and organs that are prone to rupture): deficient type III procollagen.
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