AbstractHarlequin ichthyosis (HI) is an extremely rare genetic skin disorder and the most severe form of a group of disorders, which includes lamellar ichthyosis and congenital ichthyosiform erythroderma. It consists in an autosomal recessive disorder with the majority of affected individuals being homozygous for mutation in the ABCA12 gene. This condition presents a wide range of severity and symptoms. Affected neonates often do not survive beyond the first few days of life and it was usually considered as being fatal in the past, but, with the improvement of neonatal intensive care, the survival of these patients also improved.
Our report is about a harlequin baby with new variants, which have not been previously described. He presents two variants in heterozygosity in the ABCA12 gene: c.3067del (p.Tyr1023Ilefs * 22) and c.318-2A>G p(.?), inherited from the father and mother.
Several aspects concerning genetics, physiopathology, diagnosis, treatment and prognosis are discussed. An intensive neonatal care and early introduction of oral retinoids improve survival rates in this kind of disorder.