Results 121 to 130 of about 19,609 (184)

Harlequin ichthyosis and ABCA12 [PDF]

, 2012
MD(Res)Harlequin ichthyosis (HI), a rare severe form of congenital ichthyosis is caused by recessive mutations in the ABCA12 gene. At birth, affected neonates have widespread, grossly thickened skin, separated by deep red fissures, bilateral ectropion ...
Rajpopat, Shefali
core  

Harlequin ichthyosis with a diaphragmatic hernia and a new mutation

, 2018
Harlequin ichthyosis (HI) is a rare and severe form of the autosomal recessive congenital ichthyosis. This is a case report of a 30-year-old healthy woman with a pregnancy resulting in preterm birth of a child with severe HI, who did not survive.
Andersen, Lærke Heidam Juul, Kelstrup, Louise, Jørgensen, Finn Stener, Olsen, Tina Elisabeth, Dunø, Morten   +4 more
core   +1 more source

Harlequin ichthyosis from birth to 12 years. [PDF]

BMJ Case Rep, 2020
Heap J, Judge M, Padmakumar B.
europepmc   +1 more source

Correction to: 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]

Pediatr Rheumatol Online J, 2021
Baldo F, Brena M, Carbogno S, Minoia F, Lanni S, Guez S, Petaccia A, Agostoni C, Cimaz R, Filocamo G.   +9 more
europepmc   +1 more source

898 The proteasome inhibitor PTTC restores the lipid barrier in a harlequin ichthyosis in vitro skin model

Journal of Investigative Dermatology, 2023
E. Giusto, J. Arbiser, E. O’Toole
semanticscholar   +1 more source

3D model of harlequin ichthyosis reveals inflammatory therapeutic targets. [PDF]

J Clin Invest, 2020
Enjalbert F, Dewan P, Caley MP, Jones EM, Morse MA, Kelsell DP, Enright AJ, O'Toole EA.   +7 more
europepmc   +1 more source

Treatment of Harlequin Ichthyosis With Acitretin

Actas Dermo-Sifiliográficas (English Edition), 2015
C, Arjona-Aguilera, C, Albarrán-Planelles, D, Jiménez-Gallo   +2 more
openaire   +2 more sources

Colloidion Baby: A Rare Clinical Entity [PDF]

Journal of Clinical and Diagnostic Research, 2016
Rakesh Kumar, Gulnaz Nadri, Vineeta Wadhwa, Rajlaxmi Mundhra   +3 more
doaj   +1 more source

Harlequin Ichthyosis: A Comprehensive Review of Pathogenesis, Diagnosis, and Management

Journal of Exploratory Research in Pharmacology
Falguni Goel, Neha Sharma, Daksh Kumar
semanticscholar   +1 more source

"Fetal clues to Harlequin ichthyosis: Bridging sonography with genetic breakthroughs".

Taiwanese Journal of Obstetrics & Gynecology
Charu Sharma, Abhishek Bhardwaj, T. Rajial, Vaishnavi Verma, Pratibha Singh, Kuldeep Singh   +5 more
semanticscholar   +1 more source