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Australas J Dermatol. 2004 Nov;45(4):226-8.

Homozygous familial hypercholesterolaemia presenting with cutaneous xanthomas: response to liver transplantation.

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Skin and Cancer Foundation, Carlton South, Victoria, Australia.


A 19-month-old girl with cutaneous xanthomas was diagnosed with homozygous familial hypercholesterolaemia, treated with atorvastatin, plasma exchange and finally at the age of 3.5 years, with liver transplantation. Her serum cholesterol levels fell to normal and the xanthomas regressed following liver transplantation. She remains well 17 months post transplant.

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