Early Diagnosis of Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis Syndrome: A Case Report

This case report described a neonate diagnosed with ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome (ILVASC), a rare inherited condition. The study emphasized the importance of early recognition and an interdisciplinary approach in altering the clinical course of this disease. Early diagnosis allowed for prompt assessment, confirmation of the genetic diagnosis, and management of potential complications, which are crucial due to the risk of significant comorbidities and mortality associated with impaired barrier function in congenital ichthyosis.