Familial pseudoxanthoma elasticum: Report of three case series in a single family
Keywords:
Pseudoxanthoma elasticum, ABC6 geneAbstract
Pseudoxanthoma elasticum is a rare autosomal recessive skin disease with a slight female preponderance and often presents a therapeutic challenge due to additional risk to eyes and cardiovascular system. Clumping and distortion of elastic fibres in target organ leads to deposition of calcium and impair the function of elastic fibres of mid and deep dermis, media and intima of midsized arteries, Bruch’s membrane in eye. Here we present three cases in the same family who presented with yellowish flat plaques, papules in the front and lateral side of the neck.References
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