Results 1 to 10 of about 639 (112)
Harlequin fetus: A mayhem in a consanguineous marriage? [PDF]
Clinical Case Reports, 2021 Ichthyosis fetalis is a very rare and life‐threatening dermatological disorder that is very difficult to treat, especially in low‐resource settings.
Senai Goitom Sereke +2 more
doaj +5 more sources
Prenatal diagnose of a fetus with Harlequin ichthyosis in a Chinese family
Taiwanese Journal of Obstetrics and Gynecology, 2018 Objective: Harlequin ichthyosis (HI) was the most severe form of ichthyoses, which leaded to neonatal death in 50% of cases. It was the result of mutations in ABCA12 gene.
Wei Jian +8 more
exaly +5 more sources
Harlequin fetus: A case report
Indian Journal of Pathology and Microbiology, 2022 Harlequin ichthyosis (HI) is the most severe type of congenital ichthyosis. It is extremely rare with very few cases reported in India. It is inherited in an autosomal recessive fashion. The importance of antenatal diagnosis by ultrasonography, DNA-based
Mangesh Machindra Londhe +2 more
doaj +3 more sources
Frontiers in Genetics, 2021 BackgroundHarlequin ichthyosis (HI) is the most severe form of the keratinizing disorders, and it is characterized by whole-body hard stratum corneum. ABCA12 has been identified as the major disease-causing gene of HI.MethodsA case of HI was prenatally ...
Min-Yue Dong
exaly +3 more sources
A novel variant c.7104 + 6T > A of ABCA12 linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay [PDF]
Frontiers in PediatricsBackgroundAutosomal recessive congenital ichthyosis (ARCI) is a group of genetic skin disorders characterized by abnormal keratinization, leading to significant health issues and reduced quality of life.
Linyan Zhu +7 more
doaj +2 more sources
Indian Journal of Dermatology, 1995 A neonate with deeply fissured skin, polydactily and deformed ears is described.
Sengupta B, Sarker J.N, Sharma M.K
doaj +1 more source
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2004 We report a case of harlequin fetus born to the consanguineous parents. She had the typical skin manifestations of thick armour like scales with fissures, complete ectropion and eclabium, atrophic and crumpled ears and swollen extremities with gangrenous digits. Supportive treatment was given but the neonate died on the 4th day.
Naveed Akhter, Malik +1 more
exaly +4 more sources
Successful treatment of a harlequin fetus. [PDF]
Archives of Disease in Childhood, 1989 We report the prolonged survival of a harlequin fetus who was treated with intensive supportive measures, emollients, and oral etretinate.
P S, Ward, R D, Jones
exaly +3 more sources
Harlequin ichthyosis: A case image from Syria
Clinical Case Reports, 2022 Harlequin ichthyosis is a rare autosomal recessive congenital ichthyosis with a distinct phenotypic appearance. It associated with a high mortality rate and affects both sexes equally.
Jacob Al‐Dabbagh +3 more
doaj +1 more source
Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis [PDF]
Journal of Clinical and Diagnostic Research, 2015 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.
Swati Rathore +4 more
doaj +1 more source