ArticleClinical, cosmetic and investigational dermatology2025
From Xanthomas to Genetic Diagnosis: A Case Report of Sitosterolemia in an Infant with a Homozygous ABCG5 c.1166G>A (p.Arg389His) Variant.
Article in Clinical, cosmetic and investigational dermatology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Abstract
Introduction: Sitosterolemia is a rare autosomal recessive disorder characterized by disrupted lipid metabolism and elevated plasma plant sterol levels. Clinical manifestations often include cutaneous and tendon xanthomas and hypercholesterolemia; delayed diagnosis can lead to cardiovascular disease and hematological abnormalities. This case report describes an 11-month-old female infant with sitosterolemia who presented with xanthomas appearing around 6 months of age. Genetic sequencing identified a homozygous Case and Methods: Clinical data of a pediatric patient with sitosterolemia caused by a homozygous Results: An 11-month-old female infant developed linear xanthomas in the skin folds of her ankles at approximately 6 months of age, which progressively worsened. Blood tests revealed significantly elevated total cholesterol and low-density lipoprotein cholesterol (LDL-C) levels. Sequencing of coding regions for genes associated with familial hypercholesterolemia and sitosterolemia identified a homozygous Conclusion: Sitosterolemia should be suspected in patients presenting with cutaneous xanthomas, prompting thorough investigation including lipid profiling, genetic testing, and plasma plant sterol quantification to avoid misdiagnosis as familial hypercholesterolemia (FH).
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