Results 91 to 100 of about 363,235 (161)

Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1-deficient Jack Russell Terriers and response to topical ceramide. [PDF]

BACKGROUND Autosomal recessive ichthyosis leads to structural or biochemical changes that impair skin barrier function. HYPOTHESIS/OBJECTIVES To assess (1) the phenotype and genotype in a litter of Jack Russell Terriers with autosomal recessive ...
Mauldin, Elizabeth, Crumrine, Debra, Casal, Margret, Elias, Peter M, Kiener, Sarah, Leeb, Tosso, Bradley, Charles, Meyer, Jason   +7 more
core   +2 more sources

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source

Comèl–Netherton's syndrome in siblings

Indian Journal of Paediatric Dermatology, 2016
The syndrome is characterized by the association of two classical clinical presentations:“Trichorrhexis invaginata”, reported by Netherton and the“Ichthyosis linearis circumflexa”, described by Comel.
Asha Gowrappala Shanmukhappa, Priyadarshini Kharge, Bhumika Shivaram, Leelavathy Budamakuntala   +3 more
doaj   +1 more source

Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal.

, 2013
Autosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous group of cornification disorders characterized by generalized scaling of the skin.
Gouveia C, De Falco F, Sousa AB, Neri I, Graziano C, Toschi B, AURICCHIO, LUIGI, Salvatore F., ESPOSITO, GABRIELLA   +8 more
core   +1 more source

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

Front Pharmacol, 2023
Peña-Corona SI, Gutiérrez-Ruiz SC, Echeverria MLDC, Cortés H, González-Del Carmen M, Leyva-Gómez G.   +5 more
europepmc   +1 more source

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
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   +1 more source

CYP4F22-Related Autosomal Recessive Congenital Ichthyosis: Clinical Presentation. [PDF]

Cureus, 2022
Dumenigo A, Rusk A, Marathe K.
europepmc   +1 more source

Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype

, 2008
Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a mutation in the
Basel-Vanagaite, L., Shohat, M., Maas, S., Avrahami, L., Smitt, J. H. S., van Marle, J., Pasmanik-Chor, M., Magal, N., Rainshtein, L.   +8 more
core   +1 more source

Rapid Publications Elevated n-Alkanes in Congenital lchthyosiform Erythroderma Phenotypic Differentiation of Two Types of Autosomal Recessive Ichthyosis

, 2014
. Previously considered to represent a single genetic disorder, autosomal recessive ichthyosis was examined in clinical and lipid biochemical studies of 18 patients with this condition and instead disclosed to be two distinct diseases.
Peter M. Elias, Mary L. Williams
core  

Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families

, 2019
Autosomal recessive congenital ichthyosis (ARCI), a phenotypically heterogeneous group of non-syndromic Mendelian disorders of keratinization, is caused by mutations in as many as 13 distinct genes.
Hesari K. K., Vahidnezhad H., Saeidian A. H., Fortina P., Sotoudeh S., Aghazadeh N., Kumar G., Zeinali S., Uitto J., Youssefian L., Daneshpazhooh M., Basiri M., Mahmoudi H., Londin E., Mansouri P., Touati A.   +15 more
core   +1 more source