A Rare Familial Case of Harlequin Ichthyosis in an Infant of a Diabetic Mother: A Diagnostic and Management Challenge in Low and Middle Income Settings. [PDF]
Clin Case RepABSTRACT Harlequin Ichthyosis (HI) is an extremely rare, autosomal recessive, and highly fatal condition in neonates. It is especially difficult to control in the low‐ and middle‐income countries (LMICs) due to the low rate of prenatal screening, cultural reluctance, and lack of access to neonatal intensive care.
Zaeem M +6 more
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Prenatal diagnosis of a fetal harlequin ichthyosis. [PDF]
Arch Gynecol Obstet, 2023 Spingler T +3 more
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A fatal case of Harlequin ichthyosis: Experience from low-resource setting. [PDF]
Narra J, 2023 Harlequin ichthyosis is a severe and fatal presentation of ichthyosis with an autosomal recessive inheritance. Infants with Harlequin ichthyosis have a high mortality rate, and a dismal prognosis; therefore the majority of neonates die shortly after ...
Vella V +9 more
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Newborn with Harlequin Ichthyosis and the Nursing Care [PDF]
Journal of Pediatric Emergency and Intensive Care Medicine, 2018 Harlequin ichthyosis is the severest form of non-bullous ichthyosis, which is quite uncommon in newborns, and is usually characterized by fatal extreme keratinization of the skin.
Serap Torun, Handan Demiroğlu
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Juvenile idiopathic arthritis in infants with Harlequin Ichthyosis: two cases report and literature review [PDF]
Italian Journal of Pediatrics, 2020 Background Harlequin Ichthyosis is the most severe variant of congenital autosomal recessive ichthyosis, associated with severe morbidity and potentially lethal in early life.
Cinzia Auriti +8 more
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Prenatal diagnosis of a rare variant of harlequin ichthyosis with literature review [PDF]
BMC Medical Imaging, 2021 Background Harlequin ichthyosis (HI) is a rare and severe genetic skin disorder that occurs within the developing foetus. Due to the extremely poor prognosis, prenatal diagnosis becomes very important, especially for foetuses with no family history ...
Yi Zhou +3 more
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A case of harlequin ichthyosis treated with isotretinoin [PDF]
Dermatology Online Journal, 2014 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 ...
Chang, Laura M, Reyes, Melissa
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Epidemiology and Clinical Characteristics of Harlequin Ichthyosis: A Systematic Review and Meta-Analysis of Case Reports [PDF]
Dermatology Practical & ConceptualIntroduction: Harlequin ichthyosis (HI) is considered one of the rarest and most severe congenital disorders, characterized by the development of thick, plate-like scales, ectropion, eclabium, and multisystem complications that mainly cause high ...
Ahmed Kurdi +7 more
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Prenatal diagnosis of harlequin ichthyosis: a case report [PDF]
Obstetrics & Gynecology Science, 2020 Harlequin ichthyosis (HI) is a rare and severe form of ichthyosis and is characterized by thickened, hard, armor-like plates of skin that cover the entire body.
Mudunuri Vijayakumari +4 more
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Harlequin ichthyosis: A rare case. [PDF]
Turk J Obstet Gynecol, 2017 Harlequin ichthyosis is a very rare condition that affects the skin of newborns. It is associated with poor barrier function of the skin leading to dehydration and leaves newborns prone to infections. It is due to mutations in adenosine triphosphate binding cassette A12 gene transmitted as an autosomal recessive disorder.
Shruthi B +3 more
europepmc +3 more sources