Multiple xanthomas in a patient with Alagille syndrome
DOI:
https://doi.org/10.47196/da.v26i3.2103Keywords:
Alagille syndrome, cholestasis, hypercholesterolemia, JAG1, xanthomaAbstract
Alagille syndrome (ALGS) is characterized by the presence of chronic cholestasis caused by bile duct hypoplasia, vertebral, ophthalmic and cardiac abnormalities, as well as a characteristic facial phenotype. Its inheritance is autosomal dominant, most frequently caused by a mutation in the JAG1 gene. We present a 3-year-old boy with ALGS who, presented with widespread pruritic xanthomas localized on the face, trunk, and limbs due to the associated hypercholesterolemia.
The aim of this publication is to describe a patient with ALGS and multiple skin lesions associated with intense refractory pruritus. We emphasize the importance of monitoring serum cholesterol levels and liver disease in patients with cutaneous xanthomas.
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