Journal article

Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia.

Sharmila Kiss, Joy Yaplito Lee, James Pitt, Duncan MacGregor, Jane Wallace, Melanie Marty, Natasha J Brown

JIMD Rep | Published : 2020


Sitosterolemia is an extremely rare autosomal recessive disease caused by mutations in either ABCG5 or ABCG8, which encode for a sterol efflux transporter (sterolin) that pumps sterols out into the intestinal lumen or into bile. This leads to progressive accumulation of plant sterols in blood and tissues. Clinical presentation is variable and may include xanthoma, arthritis, thyroid dysfunction, premature atherosclerotic disease, splenomegaly, and hematologic manifestations. We report a child presented with multiple xanthomas at age 5.5 years, located on the elbow, knee, and toe. Juvenile xanthogranuloma was considered based on histopathologic findings. At 8 years of age, a lipid profile sho..

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