Results 61 to 70 of about 19,609 (184)

Harlequin Ichthyosis in a HanWoo Calf

Journal of Veterinary Medical Science, 2007
Ichthyosis (fish scale disease) is a rare hereditary disease and characterized by excessive cutaneous scale formation. A male HanWoo calf born by natural service was found with fissures and thickened, scaly, cutaneous plates covering over 90% of its body.
CHO, Jong-Ki, SON, Jung-Min, LEE, Doo-Soo, PARK, Seong-Jun, CHO, Sung-Whan, SHIN, Sang Tae   +5 more
openaire   +3 more sources

Case Report: A newborn in western Nepal with Harlequin ichthyosis

F1000Research, 2023
Harlequin ichthyosis(HI) is a rare autosomal recessive congenital ichthyosis with an incidence of 1 in 300,000 live births. It is lethal in 44% of cases and the baby is usually prematurely born. These babies have thick, highly keratinized armor-like skin,
P. S. Rajput, S. Basnet, Pradip kumar Paudel, Bibek Devkota, R. Prasad, K. Amgain   +5 more
semanticscholar   +1 more source

A Neonate with Diamond-Shaped Yellowish Scaling of the Skin: A Case Report on Harlequin Ichthyosis

Asian Journal of Pediatric Research, 2023
Harlequin Ichthyosis is an extremely rare genetic disorder of the skin with a mortality rate of 44%. It is inherited in an autosomal recessive pattern, pointing towards the role of consanguinity among parents as a contributing factor. We present a unique
Maheen Kalwar, Samrah Inam Siddiqui, Zaiya Waseem, Oam Parkash   +3 more
semanticscholar   +1 more source

A Case of Harlequin Ichthyosis: Improvement Survival Rate with Early Isotretinoin Therapy

OBM Genetics
Harlequin ichthyosis (HI) is among the most severe hereditary skin conditions of autosomal recessive congenital ichthyosis (ARCI) in newborns, associated with a mutation of the ABCA12 gene. Patients have a typical clinical appearance at birth.
Hanny Tanasal, Iline Michaela, Retno Danarti   +2 more
semanticscholar   +1 more source

Recurrent Harlequin Ichthyosis in a Family: A Case Report

Apollo Medicine, 2023
Introduction: Harlequin ichthyosis is a severe form of erythrodermic ichthyosis that manifests in a distinctive and distressing appearance at birth. The newborn baby is covered in thick, plate-like scales with distorted surface features, resulting in ...
Meghana Somasundara, Srinivasa Somasundara   +1 more
semanticscholar   +1 more source

Self‐Assembled Skin Equivalents with Monoclonal CRISPR/Cas9‐Modified N/TERT‐1 Keratinocytes: A Cutting‐Edge Model for Human Skin and its Diseases

Advanced Healthcare Materials, Volume 15, Issue 25, 3 July 2026.
Self‐assembled, scaffold‐free full‐thickness skin equivalents with monoclonal, genetically modified N/TERT‐1 keratinocytes represent a novel in vitro model of human skin and skin diseases. The model is highly robust, reproducible, physiologically relevant, and suitable for high‐throughput applications.
Marta Slaufova, Tugay Karakaya, Michela Di Filippo, Thomas Kündig, Hans‐Dietmar Beer   +4 more
wiley   +1 more source

Genetic Counselling and Prenatal Diagnosis in a Case of Harlequin Ichthyosis: A Novel ABCA12 Gene Mutation

Journal of Clinical and Diagnostic Research
Hereditary diseases are disorders that mainly result from mutations or changes in Deoxyribonulciec Acid (DNA), Ribonucleic Acid (RNA), or chromosomes, which impact the overall and physical welfare of an individual.
Shreya Singh, Bhagyesh Sapkale, D. Chandi, Kamlesh Chaudhari   +3 more
semanticscholar   +1 more source

Harlequin Ichthyosis: A Rare Skin Disorder

Journal of Advances in Medical and Pharmaceutical Sciences, 2023
Harlequin ichthyosis, an exceptionally rare and severe genetic skin disorder, presents a unique intersection of genetics, skin biology, and clinical manifestation.
Pooja Palandurkar, D. Jain, Pavan P. Wankhade   +2 more
semanticscholar   +1 more source

Potential of 3D Skin Models and N/TERT‐2G Cell Line in Genetic Research on Autosomal Recessive Nonsyndromic Epidermal Differentiation Disorders

Experimental Dermatology, Volume 35, Issue 6, June 2026.
ABSTRACT Autosomal recessive nonsyndromic epidermal differentiation disorders (AR‐nEDDs), also known as autosomal recessive congenital ichthyosis (ARCI), are rare genetic skin diseases that lack curative treatments and can only be managed symptomatically.
Hao‐Hsiang Hsu‐Rehder, Cristina Glocker, Christine Aldrian, Ezgi Dikici, Gesa Sophie Wilde, Mariana Stavila, Nathalie Jonca, Branislav Kollár, Steffen Ulrich Eisenhardt, Judith Fischer   +9 more
wiley   +1 more source

Harlequin Ichthyosis

, 2022
I will be doing research on a rare skin disease called Harlequin Ichthyosis which is a genetic disorder characterized by thickening of the skin all over most of the body at birth.
Berger, Natalie
core