Results 11 to 20 of about 528,814 (282)

Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs. [PDF]

Front Pharmacol, 2023
Autosomal recessive congenital ichthyoses (ARCI) are a skin pathology due to genetic causes characterized by a variable degree of desquamation, accompanied by erythema.
Peña-Corona SI, Gutiérrez-Ruiz SC, Echeverria MLDC, Cortés H, González-Del Carmen M, Leyva-Gómez G.   +5 more
europepmc   +4 more sources

Dupilumab improves congenital ichthyosis [PDF]

JDDG: Journal der Deutschen Dermatologischen Gesellschaft
Casetti, Federica, Has, Cristina
semanticscholar   +5 more sources

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan [PDF]

Molecular Genetics & Genomic Medicine, 2019
Background Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous skin disease, associated with defects in the skin permeability barrier. Several but not all genes with underlying mutations have been identified,
Ahmad, Jamil, Alabdulkareem, Adnan S., Alakloby, Omar Mohammed, Alawbathani, Salem, Alnutaifi, Kholood Abdulaziz, Altmüller, Janine, Borck, Guntram, Cunha, Dulce Lima, Eckl, Katja, Gruber, Robert, Hennies, Hans Christian, Kakar, Naseebullah, Krabichler, Birgit, Nurnberg, Peter, Plank, Roswitha, Schmuth, Matthias, Zschocke, Johannes   +16 more
core   +7 more sources

Transglutaminase 1 Replacement Therapy Successfully Mitigates the Autosomal Recessive Congenital Ichthyosis Phenotype in Full-Thickness Skin Disease Equivalents [PDF]

, 2019
This is a letter to the ...
Calderón, Marcelo, Cunha, Dulce Lima, Eckl, Katja, Graff, Patrick, Gruber, Robert, Hedtrich, Sarah, Hennies, Hans Christian, Miceli, Enrico, Moosbrugger-Martinz, Verena, Plank, Roswitha, Thomforde, Sari, Yealland, Guy   +11 more
core   +4 more sources

Bullying in Children With Congenital Ichthyosis. [PDF]

Pediatr Dermatol
ABSTRACTBackground/ObjectivesBullying of children with chronic disorders is associated with an increased risk of depression, anxiety, poor self‐esteem, and suicidal ideation. Congenital ichthyoses are genodermatoses with extensive visible scaling and inflammation.
Rustad AM, Soltani H, Yang LJ, McKenney JE, Ren Z, Rangel SM, Paller AS.   +6 more
europepmc   +3 more sources

Phase IIb randomized CONTROL study demonstrates a novel topical isotretinoin formulation, TMB-001, is safe and effective in participants with either recessive X-linked or autosomal recessive lamellar congenital ichthyosis [PDF]

Clincal and Experimental Dermatology, 2023
BACKGROUND In 2 severe congenital ichthyosis (CI) subtypes, autosomal recessive lamellar ichthyosis (ARCI-LI) and X-linked recessive ichthyosis (XLRI), cutaneous manifestations include widespread scaling. Approved topical treatment options are limited to
Dédée F. Murrell, Joyce Teng, Scott Guenthner, Kalyani Marathe, Steven Kempers, Kimmie Eads, Leslie Castelo‐Soccio, Alan M. Mendelsohn, Jessica Raiz, Christopher G. Bunick   +9 more
openalex   +2 more sources

Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis. [PDF]

Front Immunol
Sefer AP, Catak MC, An I, Keser Ozturk N, Baykal Selcuk L, Dincer OS, Benamar M, Getachew F, Schmitz-Abe K, Agrawal PB, Bayram Catak F, Erman B, Bilgic Eltan S, Karakoc Aydiner E, Ozen A, Chatila T, Baris S.   +16 more
europepmc   +2 more sources

Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother [PDF]

SAGE Open Medical Case Reports
We present the cases of two brothers with ichthyosis, born to consanguineous parents, with the eldest having extracutaneous manifestations in the form of microphthalmia and corneal opacities causing complete blindness.
Rachel L Aubry, A. Micheil Innes, Richard M Haber   +2 more
doaj   +2 more sources

Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis. [PDF]

Genes (Basel), 2023
Autosomal recessive congenital ichthyosis (ARCI) is a non-syndromic congenital disorder of cornification characterized by abnormal scaling of the skin.
Hotz A, Kopp J, Bourrat E, Oji V, Süßmuth K, Komlosi K, Bouadjar B, Tantcheva-Poór I, Hellström Pigg M, Betz RC, Giehl K, Schedel F, Weibel L, Schulz S, Stölzl DV, Tadini G, Demiral E, Berggard K, Zimmer AD, Alter S, Fischer J.   +20 more
europepmc   +2 more sources

Eye involvement in a series of 94 young patients with congenital ichthyosis: Importance of early ophthalmological referral [PDF]

JAAD Int
Blanco-Calvo N, Núñez-Reiz A, Vals-Ferrán I, Malhotra R, Hernández-Martín A.   +4 more
europepmc   +2 more sources