Harlequin ichthyosis is a rare and the most severe form of congenital ichthyosis. Although prenatal diagnosis isdifficult for this disorder, recently, this obstacle has markedly improved with the use of DNA-based prenataldiagnosis. Here in, we presented a neonate with harlequin ichthyosis born by assisted reproductive technology(ART). In this case, the diagnosis of harlequin ichthyosis was not ...

harlequin ichthyosis is a rare and the most severe form of congenital ichthyosis. although prenatal diagnosis is difficult for this disorder, recently, this obstacle has markedly improved with the use of dna-based prenatal diagnosis. here in, we presented a neonate with harlequin ichthyosis born by assisted reproductive technology (art). in this case, the diagnosis of harlequin ichthyosis was n...

Harlequin ichthyosis is one of the most severe congenital skin cornification disorders with an incidence rate of about 1 in 300000 births and characteristic clinical features. We report two cases of harlequin ichthyosis (HI) or harlequin fetus (HF), which were products of consanguineous union. Clinical examination showed typical features of harlequin ichthyosis, with the presence of plaques wit...

 Harlequin ichthyosis is a rare and the most severe form of congenital ichthyosis. Although prenatal diagnosis is difficult for this disorder, recently, this obstacle has markedly improved with the use of DNA-based prenatal diagnosis. Here in, we presented a neonate with harlequin ichthyosis born by assisted reproductive technology (ART). In this case, the diagnosis of harlequin ichth...

Harlequin ichthyosis is a rare and exceedingly severe form of congenital ichthyosis with an incidence of approximately 1 in 300,000 births. These patients are at a high risk for neonatalinfection and septicemia. Most affected infants die within the  first days or weeks of life.We report a male baby born with harlequin ichthyosis. There is limited information regarding the course and...

Harlequin ichthyosis is a rare congenital ichthyosis classified under the category of Autosomal Recessive Congenital Ichthyoses, which also include lamellar ichthyosis and congenital ichthyosiform erythroderma. It is caused by functional null mutations in the ABCA12 gene, a keratinocyte lipid transporter associated with lamellar granule formation. Patients have a classic clinical presentation a...

it is an autosomal recessive, and occasionally autosomal dominant mutant extremely rare disorder with only 100 reported case in literature. this fatal disorder occur in both sexes and all races. in most circumstances the newborn die soon after birth also it is known as harlequin fetus, alligator baby or keratosis diffusa fatalis. because of its rarity, we report 2 cases of this disorder, here.

Harlequin ichthyosis is a rare and extremely severe form of congenital ichthyosis. The affected neonates usually do not survive beyond first few days after birth, but several long-term survivals have been noted. The inheritance is thought to be autosomal recessive. It has recently been shown that the vast majority of affected individuals are homozygous for mutations in the ABCA12 gene, which ca...