Pathology - Ehlers-Danlos Syndrome (EDS)
A condition that has ten distinct variations, all of which are linked to improper collagen synthesis. Autosomal dominant (types I–IV, VIIA–B, VIII), autosomal recessive (types VI, VIIC, X), and X-linked recessive (types V, IX) are the three different modes of inheritance. Pathophysiology: When collagen is mutated, the structures it makes up become weaker. This can result in hyperextensible joints due to weak tendons, skeletal abnormalities due to aberrant bone development, and a weakened skin and vascular wall that makes an organ vulnerable to injury. Skin: A disorganized, twisted mass of differently sized collagen strands. Depending on the version, presentations change. Thin, hyperextensible skin, easily bruised, hypermobile joints worsened by dislocation, weak muscles, atypical teeth, and prolapsed mitral valve are common symptoms. Treatment: symptomatic treatment for osteoarthritis; vitamin C supplements (involved in collagen formation).
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