X-Linked Ichthyosis, Dextrocardia And Septal Defect In A Pair Of Dizygotic Twin

The ichthyosis may be found isolated or in association with other genetic defects. A two-month-old in a pair of dizygotic twin boy with ichthyosiform dermatosis; dyspnea, a pansystolic precordial murmur at the right sternal border was referred to our clinics. On physical examination the infant showed ichthyosis, situs inversus totalis, lung diseases, cryptorchidism, and inguinal hernia. An echocardiographic study revealed mirror-image dextrocardia; a large perimembranous outlet ventricular septal defect, subvalvular aortic stenosis and pulmonary hypertension. The other pair of twin girl had no skin changes. We believe this patient represents a new manifestation of ichthyosis with a unique appearance.