Results 31 to 40 of about 19,609 (184)
Harlequin Ichthyosis: Navigating the Challenges of a Rare Case
GAIMS Journal of Medical SciencesIchthyosis, derived from the Greek word "ichthys" meaning fish, encompasses various skin disorders characterized by dry, scaly, and thickened skin, often inherited through autosomal or X-linked modes.
Kamleshkumar G Rathod +2 more
doaj +2 more sources
Juvenile idiopathic arthritis in Harlequin ichthyosis, a rare combination or the clinical spectrum of the disease? Report of a child treated with etanercept and review of the literature [PDF]
Pediatric Rheumatology Online Journal, 2021 Background Harlequin ichthyosis (HI) is the most severe phenotype of autosomal recessive congenital ichthyosis. Juvenile Idiopathic Arthritis (JIA) represents a heterogenous group of disorders all sharing the clinical manifestation of chronic arthritis ...
Francesco Baldo +9 more
doaj +2 more sources
Abnormal Lamellar Granules in Harlequin Ichthyosis [PDF]
Journal of Investigative Dermatology, 1992 Lamellar granules are specialized lipid-rich organelles present in epidermal granular cells. They fuse with the apical cell surface and discharge their contents into the intercellular space forming lamellar sheets. It was previously shown by electron microscopy that lamellar granules in biopsies of infants affected with harlequin ichthyosis are either ...
Milner, Martha E +3 more
openaire +3 more sources
Prenatal diagnosis of congenital harlequin ichthyosis with fetal MRI [PDF]
Indian Journal of Radiology and Imaging, 2019 Most of the fetal deformities are caused due to genetic abnormalities. Although magnetic resonance imaging (MRI) may be used to accurately diagnose these deformities, it has been reported that gene analysis is a more accurate diagnostic method. Harlequin
Kiran A Kale, Nitin P Ghonge, Anita Kaul
doaj +2 more sources
Harlequin Ichthyosis in a Preterm Neonate: A Rare Case Report. [PDF]
Clin Case RepABSTRACT A condition known as harlequin ichthyosis appears rarely, marked by intense abnormalities in skin development due to inherited changes in the ABCA12 gene. This leads to major issues with the outer layer of skin, forming hard, plate‐like coverings split by wide cracks.
Ali T +8 more
europepmc +2 more sources
Journal of the American Academy of Dermatology, 2015 Harlequin ichthyosis is a rare, severe formof ichthyosis, which presents at birth. The neonate is encased in an \u27\u27armor\u27\u27 of thick scaly plates separated by deep fissures.
M J, Olmos Jiménez +3 more
core +6 more sources
Harlequin Ichthyosis in a Preterm Neonate: A Case Report. [PDF]
CureusHarlequin ichthyosis is a rare autosomal recessive disorder characterized by severe hyperkeratosis and impaired skin barrier function, often associated with high neonatal mortality.
Ulmeanu AM +3 more
europepmc +2 more sources
Ophthalmic Review on Neonatal Harlequin Ichthyosis. [PDF]
Cureus, 2023 Harlequin ichthyosis is a rare congenital autosomal recessive disorder that causes hyperkeratosis or plate-like keratosis. Hyperkeratosis affects both upper and lower eyelids and causes defective eyelids.
Yeoh BJ, Nanthini S.
europepmc +2 more sources
Assessing the Use of Ustekinumab in a Pediatric Patient With Harlequin Ichthyosis. [PDF]
Cureus, 2023 Harlequin ichthyosis (HI) is a rare, life-threatening genodermatosis that is characterized by thick, scaly, hyperkeratotic plaques throughout the skin and is typically associated with severe ectropion, eclabium, flexion contractures, and dysplastic ears.
Almuhanna N +4 more
europepmc +2 more sources