ALLMedicine™ Ichthyosiform Erythroderma Center
Research & Reviews 106 results
https://doi.org/10.1093/bjd/ljac029
The British Journal of Dermatology; Gong Z, Dai S et. al.
Jan 24th, 2023 - Mendelian disorders of cornification (MeDOC) are a group of heterogeneous genodermatoses with different genetic bases. The pathogenesis of a substantial group of MeDOC remains to be elucidated. To identify a new causative gene and the pathogenesis...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10009909
Molecular Genetics & Genomic Medicine; Zhuang J, Luo Q et. al.
Dec 13th, 2022 - Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X-linked dominant, lethal male disorder caused by mutations to the NSDHL (NAD(P)H steroid dehydrogenase-like protein) gene. It primarily exhibits strictl...
https://doi.org/10.1016/j.jlr.2022.100308
Journal of Lipid Research; Takeichi T, Ohno Y et. al.
Nov 5th, 2022 - Self-healing collodion baby (SHCB), also called "self-improving collodion baby", is a rare mild variant of autosomal recessive congenital ichthyosis and is defined as a collodion baby who shows the nearly complete resolution of scaling within the ...
https://doi.org/10.1111/pde.15156
Pediatric Dermatology; Supsrisunjai C, Bunnag T et. al.
Oct 21st, 2022 - 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-pheno...
https://www.mdedge.com/dermatology/article/257826/pediatrics/polycyclic-scaly-eruption
Georgeanne Cornell, DO, Stuart Gildenberg, MD
Sep 14th, 2022 - The Diagnosis: Netherton Syndrome A punch biopsy from the right lower back supported the clinical diagnosis of ichthyosis linearis circumflexa. The patient underwent genetic testing and was found to have a heterozygous mutation in the serine prote.
Clinicaltrials.gov 2 results
https://clinicaltrials.gov/ct2/show/NCT04549792
Apr 20th, 2022 - The ichthyoses are a group of lifelong genetic disorders that share characteristics of generalized skin thickening, scaling and underlying cutaneous inflammation. The vast majority are orphan disorders and are associated with extremely poor qualit...
https://clinicaltrials.gov/ct2/show/NCT03041038
Aug 25th, 2021 - The ichthyoses are a group of lifelong genetic disorders which share characteristics of generalized skin thickening, scaling and underlying cutaneous inflammation. The vast majority are orphan disorders and are associated with extremely poor quali...
News 10 results
https://www.mdedge.com/dermatology/article/257826/pediatrics/polycyclic-scaly-eruption
Georgeanne Cornell, DO, Stuart Gildenberg, MD
Sep 14th, 2022 - The Diagnosis: Netherton Syndrome A punch biopsy from the right lower back supported the clinical diagnosis of ichthyosis linearis circumflexa. The patient underwent genetic testing and was found to have a heterozygous mutation in the serine prote.
https://www.medscape.com/viewarticle/949188
Apr 13th, 2021 - For as many disorders of cornification and types of ichthyosis that have been shown to benefit from retinoids, a seemingly equal number have no data or show no improvement. According to a consensus statement published in the February issue of Pedi...
https://www.mdedge.com/dermatology/article/238473/pediatrics/despite-new-ichthyosis-treatment-recommendations-many
Doug Brunk
Apr 12th, 2021 - For as many disorders of cornification and types of ichthyosis that have been shown to benefit from retinoids, a seemingly equal number have no data or show no improvement. Dr.
https://www.medscape.com/viewarticle/945212
Feb 3rd, 2021 - Clinicians using systemic retinoids for treating ichthyosis and other disorders of cornification (DOC) in children and adolescents should aim for the lowest dose possible to balance therapeutic goals with acceptable toxicity levels, advised the au...
https://www.mdedge.com/dermatology/article/235419/pediatrics/consensus-statement-issued-retinoids-ichthyosis-disorders
Jennifer Lubell
Feb 2nd, 2021 - Clinicians using systemic retinoids for treating ichthyosis and other disorders of cornification (DOC) in children and adolescents should aim for the lowest dose possible to balance therapeutic goals with acceptable toxicity levels, advised the au.