Results 81 to 90 of about 19,609 (184)

ABCA12 Is the Major Harlequin Ichthyosis Gene [PDF]

Journal of Investigative Dermatology, 2006
Harlequin ichthyosis (HI) is the most severe form of autosomal-recessive, congenital ichthyosis. Affected infants have markedly impaired barrier function and are more susceptible to infection. Abnormalities in the localization of epidermal lipids as well as abnormal lamellar granule formation are features of HI skin.
Thomas AC, Cullup T, Norgett EE, Hill T, Barton S, Dale BA, Sprecher E, Sheridan E, Taylor AE, Wilroy RS, DeLozier C, Burrows N, Goodyear H, Fleckman P, Stephens KG, Mehta L, Watson RM, Graham R, Wolf R, Slavotinek A, Martin M, Bourn D, Mein CA, O'Toole EA, Kelsell DP   +24 more
openaire   +3 more sources

Harlequin Ichthyosis: A Rare Case Report

, 2017
Harlequin fetus is a rare and the most severe genetic form of the congenital ichthyosis with an autosomal recessive inheritance. Incidence of the disease is nearly 1 in 3,00,000 live births.
Gallouj S, Lahlou A, Elmahi H, Mernissi FZ   +3 more
core   +1 more source

Harlequin Ichtyosis: A Case Report

Gynecology Obstetrics & Reproductive Medicine, 2009
Harlequin ichthyosis is a severe and usually fatal congenital keratinization disorder. Although it has many characteristic findings on prenatal ultrasound such as a wide gaping mouth, intrauterine growth retardation, short limbs, joint contractures ...
Yetkin Karasu, Tuyan İlhan, Sinan Karadeniz, Orhan Gelişen   +3 more
doaj  

Use of Janus Kinase Inhibitors in the Treatment of Genodermatoses: A Systematic Review

Dermatologic Therapy, Volume 2026, Issue 1, 2026.
Introduction Genodermatoses are rare inherited skin disorders with limited treatment options. Emerging evidence suggests Janus kinase (JAK) inhibitors may offer therapeutic benefits by modulating underlying immune and inflammatory pathways. This study aims to systematically review the efficacy and safety of JAK inhibitors in treating genodermatoses ...
Pin-Chun Chen, Chih-Chiang Chen, Sheng-Hsiang Ma, Tai-Li Chen, Suraiya Saleem   +4 more
wiley   +1 more source

A novel ABCA12 mutation 3270delT causes harlequin ichthyosis [PDF]

, 2006
The article presents a case of a baby girl who had been suffering from harlequin ichthyosis, a severe fatal congenital ichthyosis. Its clinical features include thick, plate-like scales with ectropion and flattened ears. After therapy with oral retinoids
McMillan, J. R., Hausser, Ingrid, Sakai, K., McMillan, J.R., Wolff, G., McMillan, James R., Sakai, Kaori, Wolff, Gerhard E., Sawamura, D., Shimizu, H., Hausser, J. R., Hausser, I., Akiyama, Masashi, Akiyama, M., Shimizu, Hiroyasu, Sawamura, Daisuke   +15 more
core   +1 more source

Harlequin Ichthyosis in a new born in Rwanda: A Case Report

Ethiopian journal of pediatrics and child health
Harlequin Ichthyosis is a rare and most severe congenital disorder of the skin caused by a loss-of-function mutation of ABCA12 gene. Here, we presented a male neonate with hyperkeratotic, tight, armor-like skin separated by a deep erythematous fissure ...
Getachew Yilma Adimaw, Rebecca Gerrity, Nitsuh Addis Tiru, Nkurunziza Boniface   +3 more
semanticscholar   +1 more source

Review of Biological Agents in the Therapeutic Management of Monogenic Genodermatoses

Dermatologic Therapy, Volume 2026, Issue 1, 2026.
Monogenic genodermatoses encompass a diverse group of over 400 distinct disorders, presenting significant therapeutic challenges. Recent advancements in the clinical application of biological agents have heralded a new era in the management of these conditions.
Xueying Wang, Qing Zhao, Hong Liu, Furen Zhang, Zhiqiang Song   +4 more
wiley   +1 more source

Ophthalmomyiasis externa in a child with harlequin ichthyosis

Indian Journal of Ophthalmology - Case Reports
An eight-year-old girl with underlying harlequin ichthyosis presented with a sudden onset of right upper lid swelling for 2 days, without optic nerve function impairment. She was initially treated for preseptal cellulitis until a maggot appeared from her
Jeffrey WK Ong, Hong N. Lee, Salwa Tharek, J. Che-Hamzah   +3 more
semanticscholar   +1 more source

The Concise Guide to PHARMACOLOGY 2025/26: Transporters

British Journal of Pharmacology, Volume 182, Issue S1, Page S404-S496, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Alasdair J. Gibb, Eamonn Kelly, Alistair A. Mathie, Chloe J. Peach, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Laura Amarosi, Catriona M. H. Anderson, Philip M. Beart, Stefan Broer, Paul A. Dawson, Gergely Gyimesi, Bruno Hagenbuch, James R. Hammond, Jules C. Hancox, Michal Hershfinkel, Ken‐ichi Inui, Yoshikatsu Kanai, Stephan Kemp, Edmund R. S. Kunji, Gavin Stewart, Sotiria Tavoulari, David T. Thwaites, Tiziano Verri   +28 more
wiley   +1 more source

Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes

BMC Medical Genomics, 2021
Background Ichthyosis is a heterogeneous group of diseases caused by genetic disorders related to skin formation. They are characterized by generalized dry skin, scaling, hyperkeratosis and frequently associated with erythroderma.
Ruben D. Arias-Pérez, Salomón Gallego-Quintero, Natalia A. Taborda, Jorge E. Restrepo, Renato Zambrano-Cruz, William Tamayo-Agudelo, Patricia Bermúdez, Constanza Duque, Ismael Arroyave, Johanna A. Tejada-Moreno, Andrés Villegas-Lanau, Alejandro Mejía-García, Wildeman Zapata, Juan C. Hernandez, Gina Cuartas-Montoya   +14 more
doaj   +1 more source