Ichthyosis refers to a comparatively rare group of skin disorders which may present with associated cardiomyopathy. We report a case of an 11-year-old female child who presented with ichthyosis and associated dilated cardiomyopathy. Genetic testing revealed mutation in the RBCK1 gene. She was successfully managed with heart transplantation. The purpose of the case report is to embark on the association between the skin and heart, the role of desmosomes, and the cutaneous manifestations of life-threatening cardiac disease. Cutaneous manifestations should not be escaped, as some of which could be a marker for sudden cardiac death and appropriate corrective actions can potentially save life.
Keywords: Cardiac transplantation; Desmosomes; Dilated cardiomyopathy; Ichthyosis.
© Indian Association of Cardiovascular-Thoracic Surgeons 2021.