This is a case report of congenital (Harlequin) ichthyosis which is also called harlequin fetus, a lethal keratinising disorder. An externally thickened keratin layer of skin and diffuse plate like scales characterize it. Prenatal sonographic diagnosis has been described, with 2D findings of a ...
Harlequin ichthyosis, also known as diffuse fetal keratosis, is an extremely rare and phenotypically severe hereditary skin disorder with autosomal recessi... E Reyna-Villasmil - 《Revista Peruana De Ginecología Y Obstetricia》 被引量: 0发表: 2023年 Harlequin Ichthyosis: Case Report Harlequin ichthy...
Lamellar ichthyosis (LI) is a genetic skin disorder that is present at birth. It is one of the three genetic skin disorders categorized under autosomal recessive congenital ichthyoses (ARCI). The other two skin disorders coming under ARCI are harlequin ichthyosis and congenital ichthyosiform.Muta...
Harlequin ichthyosis (HI) is an extremely severe and usually fatal congenital keratinization disorder whose responsible genes have not yet been identified. For prenatal diagnosis, the fetal skin biopsy is the only available method and has been usually performed at 21 to 22 weeks' estimated ...
harlequin ichthyosisprenatal diagnosissonographyHarlequin ichthyosis (HI) is a rare congenital fetal skin keratinization disorder with an autosomal recessive inheritance. HI has specific sonographic features in the antenatal period. Several reports of prenatal sonographic diagnosis of HI have demonstrated its ...
Harlequin ichthyosis (HI) is a genetic skin disorder characterized by thickening and splitting of the skin. In fetuses presenting with the disorder, the mortality rate is markedly high. A number of fetal HI cases have been documented. The present study reports a case of a pregnant woman who ...
Histological examination results of fetal skin biopsies in three cases showed consistent findings of epidermolytic HI, thus confirming the diagnosis of HI. The histological diagnosis of the remaining two patients was inconclusive. All cases are alive. CONCLUSION: It is advisable to conduct a methodical...
Harlequin Ichthyosis (HI) is an extremely rare genetic skin disorder. It is the most severe type of ichthyosis. It is characterized by thickened, dry, rough and armor like plates of skin with deep cracks in between. Alternative names for HI include- keratosis diffusafetalis, ichthyosis ...
Harlequin ichthyosis, also known as diffuse fetal keratosis, is an extremely rare and phenotypically severe hereditary skin disorder with autosomal recessive inheritance. This disease is caused by mutations in the adenosine triphosphate-binding cassette transporter protein (ABCA12) gene. Prenatal ...
Histological examination results of fetal skin biopsies in three cases showed consistent findings of epidermolytic HI, thus confirming the diagnosis of HI. The histological diagnosis of the remaining two patients was inconclusive. All cases are alive. CONCLUSION: It is advisable to conduct a methodical...