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About 295 results

ALLMedicine™ Ichthyosiform Erythroderma Center

Research & Reviews  106 results

Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11...
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...

Etiological identification of recurrent male fatality due to a novel NSDHL gene mutatio...
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...

Ceramide Analysis in Combination With Genetic Testing May Provide a Precise Diagnosis f...
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 ...

Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in ...
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...

Polycyclic Scaly Eruption
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.

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Clinicaltrials.gov  2 results

An Open-Label and Long-Term Extension Study to Evaluate the Efficacy and Safety of Ustekinumab in the Treatment of Patients With Ichthyoses
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...

The Efficacy and Safety of Secukinumab in Patients With Ichthyoses
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...

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News  10 results

Polycyclic Scaly Eruption
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.

Despite New Ichthyosis Treatment Recommendations, 'Many Questions Still Exist'
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...

Despite new ichthyosis treatment recommendations, ‘many questions still exist’
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.

Consensus Statement Issued on Retinoids for Ichthyosis, Disorders of Cornification
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...

Consensus statement issued on retinoids for ichthyosis, disorders of cornification
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.

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