Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.539
Abstract: 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, but a clear… read more here.
Keywords: mutations genotype; congenital ichthyosis; unknown mutations; recessive congenital ... See more keywords
Secukinumab responses vary across the spectrum of congenital ichthyosis in adults
Sign Up to like & getrecommendations! Published in 2022 at "Archives of Dermatological Research"
DOI: 10.1007/s00403-022-02325-3
Abstract: Treatment of congenital ichthyoses primarily focuses on reversing skin scaling and is not pathogenesis based. Recent studies showed Th17 immune skewing, as in psoriasis, across the spectrum of ichthyosis, suggesting that targeting this pathway might… read more here.
Keywords: across spectrum; placebo; medicine; congenital ichthyosis ... See more keywords
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.
Sign Up to like & getrecommendations! Published in 2017 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2017.05.007
Abstract: Ichthyoses are a clinically and genetically heterogeneous group of genodermatoses associated with abnormal scaling of the skin over the whole body. Mutations in nine genes are known to cause non-syndromic forms of autosomal-recessive congenital ichthyosis… read more here.
Keywords: cause; congenital ichthyosis; recessive congenital; autosomal recessive ... See more keywords
Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations
Sign Up to like & getrecommendations! Published in 2017 at "British Journal of Dermatology"
DOI: 10.1111/bjd.14860
Abstract: Autosomal recessive congenital ichthyosis (ARCI) caused by mutations in CYP4F22 is very rare. CyP4F22, a protein of the cytochrome‐P450 family 4, encodes an epidermal ω‐hydroxylase decisive in the formation of acylceramides, which is hypothesized to… read more here.
Keywords: congenital ichthyosis; recessive congenital; morphological alterations; autosomal recessive ... See more keywords
Distinct skin microbiome community structures in congenital ichthyosis
Sign Up to like & getrecommendations! Published in 2022 at "British Journal of Dermatology"
DOI: 10.1111/bjd.21687
Abstract: The ichthyoses are rare genetic keratinizing disorders that share the characteristics of an impaired epidermal barrier and increased risk of microbial infections. Although ichthyotic diseases share a T helper (Th) 17 cell immune signature, including… read more here.
Keywords: distinct skin; skin microbiome; congenital ichthyosis; structures congenital ... See more keywords
Patients with congenital ichthyosis and TGM1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response?
Sign Up to like & getrecommendations! Published in 2018 at "Experimental Dermatology"
DOI: 10.1111/exd.13813
Abstract: Autosomal recessive congenital ichthyosis (ARCI) is a group of monogenic skin disorders caused by mutations in any of at least 12 different genes, many of which are involved in the epidermal synthesis of ω‐O‐acylceramides (acylCer).… read more here.
Keywords: barrier; barrier repair; response; tgm1 mutations ... See more keywords
Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Dermatology"
DOI: 10.1111/pde.14944
Abstract: 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. read more here.
Keywords: ichthyosis; india; genotype; recessive congenital ... See more keywords
Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Dermatology"
DOI: 10.1111/pde.15156
Abstract: Autosomal recessive congenital ichthyosis (ARCI) is a heterogenous group of rare keratinization disorders. To date, more than 13 causative genes have been identified. However, data on clinical and molecular characteristics including genotype–phenotype correlation are lacking… read more here.
Keywords: recessive congenital; molecular characteristics; congenital ichthyosis; clinical molecular ... See more keywords
Developmental cataract in congenital ichthyosis
Sign Up to like & getrecommendations! Published in 2023 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-248550
Abstract: A teenage boy who was previously diagnosed to have congenital ichthyosis presented to the eye clinic with complaints of gradually decreasing vision in both eyes since childhood. The best-corrected distance visual acuity was 20/125 in… read more here.
Keywords: ichthyosis; eye; congenital ichthyosis; developmental cataract ... See more keywords
Congenital ichthyosis: a multidisciplinary approach in a neonatal care unit
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DOI: 10.1136/bcr-2022-250077
Abstract: Congenital ichthyoses are a rare group of genetic disorders caused by defects in the two outermost skin layers, resulting in an abnormal barrier function. We report the case of a male preterm neonate presenting at… read more here.
Keywords: ichthyosis multidisciplinary; care; congenital ichthyosis; multidisciplinary approach ... See more keywords
A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs
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DOI: 10.1371/journal.pone.0170708
Abstract: Autosomal recessive congenital ichthyosis in the American bulldog is characterized by generalized scaling and erythema with adherent scale on the glabrous skin. We had previously linked this disorder to NIPAL4, which encodes the protein ichthyin.… read more here.
Keywords: congenital ichthyosis; american bulldogs; recessive congenital; autosomal recessive ... See more keywords