Results 221 to 230 of about 517,181 (258)

Congenital Ichthyosis

Journal of Cutaneous Medicine and Surgery
F. Joseph, Otaru Muhammedtahir
semanticscholar   +2 more sources

Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India

Pediatric dermatology, 2022
Autosomal recessive congenital ichthyosis (ARCI) refers to non‐syndromic ichthyosis caused by mutations in one of the 13 identified genes. There are limited data on the genotype of ARCI and its phenotypic correlation from India.
M. Chiramel, Lydia Mathew, Rekha Athirayath, A. Chapla, D. Sathishkumar, T. Mani, S. Danda, R. George   +7 more
semanticscholar   +1 more source

Secukinumab significantly reduces inflammation but only mildly improves scaling in four cases of autosomal recessive congenital ichthyosis

Clincal and Experimental Dermatology, 2022
Using the psoriasis regimen, administration of secukinumab 150 mg led to a significant reduction in inflammation and some reduction in scaling in four paediatric cases of autosomal recessive congenital ichthyosis.
Dharshini Subramani, Gitika Sardana, R. Kothari, Aayush Gupta   +3 more
semanticscholar   +1 more source

Whole‐exome sequencing identified a novel pathogenic mutation of the CYP4F22 gene in a Chinese patient with autosomal recessive congenital ichthyosis and in vitro study of the mutant CYP4F22 protein

Journal of dermatology (Print), 2022
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare cornification disorders. Of the 14 genes already known to cause ARCI, CYP4F22 is a relatively new genetic etiology, the mutation spectrum of which has yet to be profiled ...
Lina Zhao, Caixia Wang, Yaning Zhang, Jinyun Li, Huize Liu, Dairong Feng   +5 more
semanticscholar   +1 more source

Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand

Pediatric dermatology, 2022
Autosomal recessive congenital ichthyosis (ARCI) is a heterogenous group of rare keratinization disorders. To date, more than 13 causative genes have been identified.
C. Supsrisunjai, T. Bunnag, P. Chaowalit, Niorn Boonpuen, T. Kootiratrakarn, V. Wessagowit   +5 more
semanticscholar   +1 more source

Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1

American Journal of Medical Genetics. Part A, 2022
Autosomal recessive congenital ichthyosis (ARCI) refers to a large and genetically heterogenous group of non‐syndromic disorders of cornification featuring diffuse scaling.
J. Mohamad, L. Samuelov, S. Assaf, L. Malki, K. Malovitski, O. Meijers, N. Adir, E. Granot, M. Pavlovsky, O. Sarig, E. Sprecher   +10 more
semanticscholar   +1 more source

Precision medicine approach in a rare case of autosomal recessive congenital ichthyosis

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG, 2022
genodermatoses are a group of rare inherited disorders with skin manifestations, often chronic and progressive with high morbidity and mortality [1]. Despite elucidation of the genetic basis for most genodermatoses, the underlying molecular mechanisms ...
M. Ettinger, T. Burner, Angelika Lackner, Leonie C. Schoeftner, Julia Holzgruber, Robert W. Gruber, Emmanuella Guenova, Martina Schuetz‐Bergmayr, Tobias Fischer, Iris K. Gratz, S. Kimeswenger, W. Hoetzenecker   +11 more
semanticscholar   +1 more source

Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle‐Eastern population

Experimental Dermatology, 2021
Autosomal recessive congenital ichthyosis (ARCI) is a rare and heterogeneous skin cornification disorder presenting with generalized scaling and varying degrees of erythema.
J. Mohamad, L. Samuelov, N. Malchin, T. Rabinowitz, S. Assaf, L. Malki, K. Malovitski, S. Israeli, M. Grafi-Cohen, O. Bitterman-Deutsch, V. Molho-Pessach, E. Cohen‐Barak, G. Bach, Ben Zion Garty, R. Bergman, A. Harel, A. Nanda, G. Lestringant, J. McGrath, S. Shalev, N. Shomron, J. Mashiah, M. Eskin-Schwartz, E. Sprecher, O. Sarig   +24 more
semanticscholar   +1 more source

Congenital Unilateral Ichthyosis in a Newborn

Archives of Pediatrics & Adolescent Medicine, 1979
Ichthyosiform erythroderma is a rare phenomenon occurring in about 1/300,000 live births. Congenital unilateral ichthyosis, described in this case report, is a clinical variant of ichthyosis. Only five previous cases have been reported. In the patient described in this report, superimposed infection of the affected skin developed.
Philip J Lipsitz, Samuel Weinberg, Frederic Suser, Elsa Valderrama   +3 more
openaire   +3 more sources

Secukinumab therapy for paediatric patients with various phenotypes of congenital ichthyosis.

Clincal and Experimental Dermatology
This case series demonstrate that secukinumab therapy for for paediatric patients with congenital ichthyosis is safe and have variable efficacy, similar to results from clinical trial in adult patients.
H. Albela, Ting Ingrid Pao Lin, Tyan Shin Lee, Deirdre Ooi, Kin Fon Leong   +4 more
semanticscholar   +1 more source