Results 71 to 80 of about 19,609 (184)

FINDINGS IN A CASE OF HARLEQUIN ICHTHYOSIS IN A NEONATE: A CASE REPORT AND REVIEW OF DIGNOSTIC CRITERIA

The Egyptian Journal of Forensic Sciences and Applied Toxicology
: Introduction: Harlequin ichthyosis (HI) is a rare autosomal recessive congenital disorder caused by mutations in the ABCA12 gene, which is crucial for lipid transport and skin barrier function.
Haidy M. Megahed, Hisham Zein-Elabdin, Maha Ghanem   +2 more
semanticscholar   +1 more source

ABCA12 Frameshift Deletion in Domestic Cats With Ichthyosis Fetalis

Veterinary Dermatology, Volume 37, Issue 3, Page 365-374, June 2026.
ABSTRACT Background Ichthyosis fetalis (IF), also known as harlequin ichthyosis, is a rare and often fatal autosomal recessive congenital skin disorder. It is characterized by thickened, hard skin plaques and deep skin fissures that limit mobility and cause malformations of the eyes, lips and ears.
Jeanna M. Blake, Melissa P. Swan, Kari J. Ekenstedt   +2 more
wiley   +1 more source

Twin Neonates with Harlequin Ichthyosis in a Rare Monochorionic Dizygotic Pregnancy: A Medical Enigma [PDF]

The condition Harlequin ichthyosis (HI) is a severe but rare form of congenital ichthyosis. It is due to mutation in the ABCA12 gene. Harlequin ichthyosis is an inherited, autosomal recessive disorder. Our case study reports the first-ever birth of twins
Saba Ayoub, Muhammad Rehan, Khan, Arshad, Sajjad, Hamza, Ahsan Raza Khan, Khan, Muhammad Shais   +5 more
core   +1 more source

Congenital harlequin ichthyosis: A rare case report and literature review [PDF]

, 1970
Harlequin ichthyosis is an extremely rare congenital genetic disorder. One of the most prominent features is the severe thickening and scales of newborn skin covering the whole body surface.
Kawilarang, Bertha
core   +1 more source

Harlequin Ichthyosis: A Fatal Disease

Jalalabad Medical Journal
Harlequin ichthyosis (HI) is a rare and severe form of congenital ichthyosis that is inherited in an autosomal recessive manner. Affected newborns are frequently premature, and this illness may be fatal at birth.
Z. Rahman, Archana Dev, Tofayel Ahmed, Rabaka Sultana, Joyoshree Paul, Nahidur Rahman   +5 more
semanticscholar   +1 more source

HARLEQUIN BABY

Pakistan Armed Forces Medical Journal, 2018
Harlequin ichthyosis is a severe and very rare erythrodermic ichthyosis listed as Disorder of Cornification DOC -7 [1, 2]. It heralds clinically as distinct monstrous appearance of baby at birth.
Naeem Raza, Asif Naseer
doaj   +2 more sources

Harlequin Ichthyosis: Experience with a short-course Oral Vitamin A as a potential adjunct therapy in low-resource settings

Pediatric Academic Case Reports
Harlequin Ichthyosis (HI), the most severe form of congenital ichthyosis, has evolved in management, leading to improved outcomes. However, these outcomes may be impacted by resource availability.
Abraham Kwadzo Ahiakpa, Elorm Kwaku Kpofo-Tetteh, Gerald Amprofi, Precious Akosua Raphaelson, Magdalene Dede Appiah, Dorothy Sackey   +5 more
semanticscholar   +1 more source

Dysregulated proteolytic cascades in Netherton syndrome: from molecular pathology to preclinical drug testing

The Journal of Pathology, Volume 268, Issue 3, Page 249-262, March 2026.
Abstract Netherton syndrome (NS) is a rare, severe, and often life‐threatening disease for which current therapeutic approaches are limited and show variable effectiveness. NS is characterized by excessive epidermal desquamation that results in a highly defective epidermal barrier, constitutive skin inflammation, allergies, and hair abnormalities.
Eleni Zingkou, Evangelos Bisyris, Georgios Pampalakis, Georgia Sotiropoulou   +3 more
wiley   +1 more source

The human cystatin M/E gene (CST6): exclusion candidate gene for harlequin ichthyosis. [PDF]

, 2003
Cystatin M/E is a recently discovered cysteine proteinase inhibitor whose expression is largely confined to cutaneous epithelia. In human skin it is expressed in sweat glands, hair follicles, and stratum granulosum of the epidermis where it presumably ...
Schalkwijk, J., Vlijmen-Willems, I.M.J.J. van, Zeeuwen, P.L.J.M., Stephens, K., Kimball, J.R., Dale, B.A., Fleckman, P., Jongh, G.J. de   +7 more
core   +2 more sources

New variants of ABCA12 in harlequin ichthyosis baby

Journal of Pediatric and Neonatal Individualized Medicine, 2018
Harlequin ichthyosis (HI) is an extremely rare genetic skin disorder and the most severe form of a group of disorders, which includes lamellar ichthyosis and congenital ichthyosiform erythroderma.
Sara Peixoto, Joana Amaral, Dolores Faria, Cristina Resende, Gabriela Mimoso, Lina Ramos   +5 more
doaj   +1 more source