Congenital heart disease in harlequin ichthyosis: Case series

Abstract

Harlequin ichthyosis (HI) is the most severe form of congenital ichthyosis and inherited in an autosomal recessive manner. The disease is marked by severe thickened and scaly skin on the entire body. It is a lethal disease, but patients can rarely survive for several months or years with treatment. We present here seven cases of HI, where cardiac evaluation was done by echocardiography. To our knowledge, this is the first study to report associated cardiac abnormalities in such patients.

Keywords

• Atrial septal defect
• cardiac abnormalities
• echocardiography
• patent ductus arteriosus
• ventricular septal defect