Results 151 to 160 of about 19,609 (184)

PA15 Harlequin ichthyosis: a multidisciplinary journey from antenatal to neonatal care

British Journal of Dermatology
Harlequin ichthyosis is a very rare genodermatosis with a birth incidence of 1 in 300 000 births and a high mortality rate of 50% (Ahmed H, O’Toole E. Recent advances in the genetics and management of harlequin ichthyosis.
Oluwamayowa Aboluwarin, S. Alexander, Esther Burden-Teh, Simone Bruschi, Shaimaa Lashin, Lleona C. L. Lee, S. Meghji, Celia Moss, Emmanuel Odega, G. Petrof, J. Srinivasan, Ting-Seng Tang, N. Yerlett, Anna E. Martinez, J. Ravenscroft   +14 more
semanticscholar   +1 more source

Harlequin ichthyosis: An ultrastructural study

Journal of the American Academy of Dermatology, 1989
The clinical, electron microscopic, and freeze-fracture features of the skin of a harlequin fetus are described. Ultrastructural findings included large, concentric lamellar bodies, focal absence of intercellular stratum corneum lipid, and an increase in the size of desmosomes and the number of tight junctions. Although the cause of this genodermatosis
R M, Fleck, M, Barnadas, W W, Schulz, L J, Roberts, R G, Freeman   +4 more
openaire   +2 more sources

Harlequin Ichthyosis

Archives of Dermatology, 1993
Background: Harlequin ichthyosis is an inherited skin disorder that usually results in death shortly after birth. Although the clinical features of this disorder are well described, the underlying molecular basis is not understood. In this article, we discuss the results of the latest histologic, immunochemical, and Western immunoblotting studies done
openaire   +1 more source

HI-MobileNet: A Lightweight Deep Learning Framework for Automated Diagnosis of Harlequin Ichthyosis

IEEE Recent Advances in Intelligent Computational Systems
Harlequin Ichthyosis (HI) is a hereditary condition characterized by severe skin defects. Early and accurate diagnosis is crucial for improving neonatal outcomes.
Athul Joe Joseph Palliparambil, Anandhu P Shaji, R. Rajan   +2 more
semanticscholar   +1 more source

Congenital ichthyosiform erythroderma and harlequin ichthyosis

The Indian Journal of Pediatrics, 1983
Five cases of congenital ichthyosiform erythroderma are being reported of these three were harleauin babies and two were collodion babies. The harlequin ichthyosis is a rare and dramatic manifestation of severe congenital ichthyosis, the longest reported suruival being 6 wk.
P M, Nair, K, Sabarinath, V G, Chellam
openaire   +2 more sources

Prenatal sonographic diagnosis of harlequin ichthyosis

American Journal of Roentgenology, 1989
Harlequin ichthyosis is a rare congenital disorder with high perinatal lethality. The skin is thickened and fissured, often dividing into polygonal plaques. This abnormality has been diagnosed by fetoscopy and fetal skin biopsy in two cases with a family history of the disorder, but to our knowledge prenatal sonographic diagnosis of harlequin ...
M, Mihalko, K K, Lindfors, A W, Grix, W E, Brant, J P, McGahan   +4 more
openaire   +2 more sources

Ichthyosis Congenital Fetalis (Harlequin Fetus)

International Journal of Dermatology, 1982
A male fetus which was the product of full-term pregnancy and normal delivery with no family history is presented. The skin was hard and thick, waxy, yellowish in color, and was crossed by horizontal and or perpendicular red fissures. The eyelids were semiclosed, hard, and stiff resulting in ectropion and the conjunctivae were red.
C, Kouskoukis, A, Minas, D, Tousimis
openaire   +2 more sources

P10 Janus kinase inhibitors to restore skin barrier function in a mouse model of Harlequin ichthyosis

British Journal of Dermatology
The autosomal recessive congenital ichthyoses (ARCIs) are a group of chronic conditions where there is unmet therapeutic need. Harlequin ichthyosis (HI) is the most severe form of ARCI with aberrant differentiation of the epidermis leading to a ...
E. Giusto, E. Jones, F. Enjalbert, Abubkr Ahmed, M. Caley, E. Rognoni, E. O'Toole   +6 more
semanticscholar   +1 more source

Prenatal sonographic diagnosis of Harlequin ichthyosis

Journal of Clinical Ultrasound, 2018
AbstractHarlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyoses. So far, there are only a few reports of prenatal diagnosis in the literature, as prenatal sonographic features are quite subtle. We report a case of prenatal diagnosis of Harlequin ichthyosis on third‐trimester sonographic examination in a consanguineous ...
Pedro Brandão, Sandra Seco, Teresa Loureiro, Carla Ramalho   +3 more
openaire   +2 more sources

Prenatal sonographic features of Harlequin ichthyosis

Archives of Gynecology and Obstetrics, 2003
Harlequin ichthyosis (HI) is a severe and usually fatal congenital keratinization disorder with autosomal recessive inheritance. For over a decade, prenatal diagnosis of HI relied on fetoscopic or sonographically guided skin biopsies, and, therefore, was limited to previously affected families.
C, Berg, A, Geipel, M, Kohl, M, Krokowski, A A, Baschat, U, Germer, U, Gembruch   +6 more
openaire   +2 more sources