EEruptive Xanthomas as a Cutaneous Manifestation of Alagille Syndrome

Abstract

Alagille syndrome is an autosomal dominant hereditary disease. It is defined by hypoplasia of the bile ducts and associated with other malformations. We present a one-year-old male patient, followed by cardiology, immunology, and gastroenterology since the first weeks of life. He exhibits characteristic facial features and bright, yellowish papular lesions, disseminated, with intense pruritus. Histopathology confirms the clinical diagnosis. Recognition of eruptive xanthomas is crucial, as these lesions constitute a visible marker of multisystem diseases. In this case, the dermatological lesions allowed a definitive diagnosis and the implementation of an appropriate therapeutic approach.