[Malignant keratoma: Harlequin fetus].

[harlequin ichthyosis]

Harlequin fetus , with an incidence of about 1 in 300 .000 births , is an extremely severe form of congenital ichtyosis . We report a case of malignant keratoma : a male infant was born at 40 weeks ' gestational age . The parents were first cousins . This infant was covered with massive thick , waxy , plate-like scales and deep fissures . There was striking facial distortion including severe eclabium and ectropion . The baby was transferred to the Neonatal Intensive Care Unit but he died at 2 days of age . There is limited information regarding the course and prognosis of neonates affected with Harlequin ichthyosis because most affected patients die within the first days or weeks of life . However , it is now evident that these infants , may have extended survival potential with intensive supportive measures as well as the addition of retinoids . Prenatal diagnosis for malignant keratoma had been performed by fetal skin biopsy and electron microscopic observation at 19 -23 weeks estimated gestational age . In 2005 , ABCA 12 was identified as the causative gene for this disease . It has now become possible to make DNA-based prenatal diagnosis for Harlequin ichthyosis by chorionic villus or amniotic fluid sampling procedures in the earlier stages of pregnancy with a lower risk to fetal health and with a reduced burden on the mothers .