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Marfan’s Syndrome High Yield Overview
Autosomal dominant connective tissue disorder, mutation in FBN1 which codes for fibrillin-1(acts as scaffold for elastin)→ weak elastic tissue
Marfan’s Syndrome Exam findings
Lens dislocation(ectopia lentis), arched palate, pectus excavatum, stretchy skin, scoliosis, long bones, tall stature, hyperflexible,stretch marks







Marfan Syndrome Cardiac findings
Mitral valve prolapse, aortic valve insufficiency, aortic root dilatation, aortic dissection/rupture


Stasis Dermatitis
Bilateral prolonged veinous pooling that irritates skin causing blisters and plaques mostly on anterior legs, Seen in patients with DM and vascular disease. Tx with compression socks. Can advance to venous stasis ulcers.


Venous statis ulcers
End point of Stasus Dermatitis→small vessel circulation becomes so poor skin breaksdown and ulcers develop on anterior legs (painful). Tx with compression socks to reduce venous pooling


Arterial Ulcers
Result of occlusion of small arteries that supply the skin, seen in peripheral artery disease, very painful; most common on medial malleoli or dorsal foot


Ehlers-Danlos Syndrome High Yield Overview
Abnormal collagen synthesis, stretchy skin, hypermobility,
Marfan vs EDS
Marfan= fibrillin gene defect=> bad elastin; ectopia lentis (lens dislocation); tall and skinny
Both: high risk for aortic root dilation, aortic dissection; stretchy skin
EDS= impaired collagen synthesis; normal lens; joint hypermobility
EDS Skin exam
Blue sclerae(due to thin soft tissue), Gorlin sign(can touch tip of tongue to nose), easy bruising, skin stretchiness, impaired healing leading to wide atrophic scars(fish mouth scars), hypermobile joints, club foot





EDS (vascular) cardiac findings
Anuerysms, uterine rupture during childbirth/pregnancy


Splinter Hemorrhage
Small non blanching erythematous lines in fingernails/toenails; seen in all types of endocarditis


Janeway Lesions vs Osler Nodes
Janeway lesions= red, flat and painless
Osler nodes= red, raised (nodules), and painful


