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Marfan syndrome

18 February 2015, by CALLEWAERT B. & DE BACKER J.


Marfan syndrome (MFS) is a heritable disease of the connective tissue with multisystemic involvement. Main manifestations include aortic root dilatation and dissection, lens ectopy and skeletal overgrowth. Though the dermatologist is rarely consulted first in the natural history of this disorder, the attentive physician might occasionally diagnose (evolving) MFS in non-obese patients consulting for (extensive) skin striae. Especially horizontal striae in the lumbar region as a result of fast growth should warrant concern. Marfan syndrome follows an autosomal dominant inheritance pattern with high clinical variability and has a prevalence of about 1/5000 to 1/10 000 individuals [43].

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