Editing the skin in place: In vivo genome correction of rare skin disease.

Lipid nanoparticle-based non-viral in situ gene editing of congenital ichthyosis-causing mutations in human skin models.

Ichthyosis Prematurity Syndrome Caused by a Novel Homozygous SLC27A4 Mutation in Two Emirati Siblings.

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

Susceptibility to Dermatophytosis in SDR9C7-Nonsyndromic Epidermal Differentiation Disorder: Observation of Cutaneous Inflammation Involving IRF4 and IL-17.

Evaluation of the Efficacy of Transglutaminase 1 Gene Delivery by Adeno-Associated Virus into Rat and Pig Skin and Safety of ARCI Gene Therapy.

A novel mutation in the transglutaminase-1 gene identified in a collodion baby: A case report.

ALOXE3 missense variant in a Chihuahua with autosomal recessive ichthyosis.

Role of Patient Support Organizations and Collaborative Genomics Programs in Enabling Participatory Medicine for Rare Diseases in India: A Case Study of Autosomal Recessive Congenital Ichthyosis.

Mimicking the LOX-Related Autosomal Recessive Congenital Ichthyosis Skin Disease Using a CRISPR-Cas9 System and Unravelling 12S-LOX Function in the Skin.

Bathing suit ichthyosis: a case report of a 13-year-old boy with unique clinical features and genetic insights from Syria.

Three Novel Mutations in ALOX12B Gene in Patients with Autosomal Recessive Congenital Ichthyosis from Turkey.

The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases.

Autosomal Recessive Congenital Ichthyosis Due to Heterozygote Variants in the ALOX12B gene Presenting as Mild Nonbullous Congenital Ichthyosiform Erythroderma.

The First Reported Japanese Case of PNPLA1-Nonsyndromic Epidermal Differentiation Disorder (PNPLA1-nEDD) Associated With an Unreported 92-Base-Pair Duplication Variant.

Erythrokeratodermia Variabilis due to a Compound Heterozygous Variants in the NIPAL4 Gene.

Nonsyndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.

A case report and literature review of self-improving collodion baby in the newborn.

Novel compound heterozygous variants in TGM1 with the lethal neonatal collodion baby and autosomal recessive congenital ichthyosis.

Case Report: Dental treatment under general anesthesia and dental management of a child with congenital ichthyosis.

A striking hand phenotype and guselkumab efficacy in NIPAL4-linked autosomal recessive congenital ichthyosis.

Genetic investigations of autosomal recessive inherited ichthyosis impressed by fetal ultrasound: Exome sequencing and haplotype linkage analysis.

A novel variant c.7104 + 6T > A of ABCA12 linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay.

Bathing-suit ichthyosis: A rare but valuable entity for developing personalised pathogenesis-based therapies for autosomal recessive congenital ichthyosis.

Clinical and genetic insights into ABCA12 variants in three Chinese families with ichthyosis: Genotype-phenotype correlation.

Autosomal recessive congenital ichthyosis caused by a novel variant in cornifelin gene: A case report.

Retrospective analysis of nail findings in the National Registry for Ichthyosis and Related Disorders database.

Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis.

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

Clinico-Epidemiologic Profile of Non-Syndromic Congenital Ichthyosis - A Retrospective Chart Review of 107 Patients.

Treatment of autosomal recessive congenital ichthyosis caused by a NIPAL4 variant with upadacitinib.

Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.

Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review.

Leukocytes containing lipid inclusions in congenital ichthyosis without classical Chanarin-Dorfman mutations.

The role of genetic polymorphisms in the sulfation of pregnenolone by human cytosolic sulfotransferase SULT2B1a.

Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.

Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations.

Autosomal recessive ALOX12B gene and consecutive collodion baby.

Tofacitinib ameliorates skin inflammation in a patient with severe autosomal recessive congenital ichthyosis.

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

Autosomal recessive congenital ichthyosis due to novel CYP4F22 mutation presenting with a collodion membrane and ocular manifestations.

Congenital ichthyosis presentation and outcome - A case series.

Prenatal ultrasound detection of collodion membrane in association with an autosomal recessive congenital ichthyosis due to transglutaminase 1 deficiency.

Novel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma.

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

Lamellar ichthyosis with a novel NIPAL4 variant showing dramatic response to high-dose vitamin D therapy.

Psychosocial impact of severe autosomal recessive congenital ichthyosis.

Lipid Nanoparticle-Mediated Hit-and-Run Approaches Yield Efficient and Safe In Situ Gene Editing in Human Skin.

Case report of self-improving collodion ichthyosis in the newborn.

High TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the "Réunion Paradox".

Alitretinoin as a Treatment Modality for Ichthyosis in Women of Childbearing Age: A Case Series and Review of the Literature.

Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions.

Patients with autosomal recessive congenital ichthyosis present a distinctive pattern of alopecia.

A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis.

Recombinant PNPLA1 catalyzes the synthesis of acylceramides and acyl acids with selective incorporation of linoleic acid.

A case of self-improving collodion ichthyosis associated with a rare variant of the ALOX12B gene.

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

Chronic activation of Toll-like receptor 2 induces an ichthyotic skin phenotype.

Congenital ichthyosis: a multidisciplinary approach in a neonatal care unit.

Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin.

Novel Pathogenic Mutation of PNPLA1 Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report.

Precision medicine approach in a rare case of autosomal recessive congenital ichthyosis.

Ceramide Analysis in Combination With Genetic Testing May Provide a Precise Diagnosis for Self-Healing Collodion Babies.

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

Harlequin ichthyosis: A case image from Syria.

Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy.

Impaired production of skin barrier lipid acylceramides and abnormal localization of PNPLA1 due to ichthyosis-causing mutations in PNPLA1.

Secukinumab significantly reduces inflammation but only mildly improves scaling in four cases of autosomal recessive congenital ichthyosis.

Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1.

PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis.

New developments in the molecular treatment of ichthyosis: review of the literature.

Compound Heterozygous Mutations in TGM1 Causing a Severe Form of Lamellar Ichthyosis: A Case Report.

Recalcitrant erythrodermic ichthyosis with atopic dermatitis successfully treated with Dupilumab in combination with Guselkumab.

Efficacy and safety of secukinumab for the treatment of severe ABCA12 deficiency-related ichthyosis in a child.

Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.

CYP4F22-Related Autosomal Recessive Congenital Ichthyosis: Clinical Presentation.

Isotretinoin Treatment for Autosomal Recessive Congenital Ichthyosis in a Golden Retriever.

[Clinical and genetic analysis of a patient with autosomal recessive congenital ichthyosis due to compound heterozygous variants of ALOX12B gene].

Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis.

Lessons on the value of long term follow-up from genetic counselling of a family with severe autosomal recessive congenital ichthyosis.

Nail involvement in autosomal recessive congenital ichthyosis.

Structural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart review.

Whole-exome sequencing identified a novel pathogenic mutation of the CYP4F22 gene in a Chinese patient with autosomal recessive congenital ichthyosis and in vitro study of the mutant CYP4F22 protein.

Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation.

Novel compound heterozygous mutations in the CYP4F22 gene in a patient with autosomal recessive congenital ichthyosis.

Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis.

Variants in the PNPLA1 Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance.

A multicenter study on quality of life of the "greater patient" in congenital ichthyoses.

Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis.

High rate of self-improving phenotypes in children with non-syndromic congenital ichthyosis: case series from south-western Germany.

Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype.

Juvenile idiopathic arthritis in Harlequin ichthyosis, a rare combination or the clinical spectrum of the disease? Report of a child treated with etanercept and review of the literature.

Exploration of novel candidate genes involved in epidermal keratinocyte differentiation and skin barrier repair in man.

The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study.

Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.

hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers.

Unbound Corneocyte Lipid Envelopes in 12R-Lipoxygenase Deficiency Support a Specific Role in Lipid-Protein Cross-Linking.

Prenatal diagnosis of harlequin ichthyosis by ultrasonography: a case report.

Comprehensive stratum corneum ceramide profiling reveals reduced acylceramides in ichthyosis patient with CERS3 mutations.

Knockdown of SDR9C7 Impairs Epidermal Barrier Function.

Ichthyosis prematurity syndrome in two Omani siblings, caused by homozygous c.1A > G mutation in the FATP4 gene.

Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients.

Autosomal Recessive Congenital Ichthyosis and Steroid-Resistant Nephrotic Syndrome due to Homozygous Mutation in the ALOX12B gene: A Novel Association with Review of Literature.

Preclinical Evaluation of a Modified Herpes Simplex Virus Type 1 Vector Encoding Human TGM1 for the Treatment of Autosomal Recessive Congenital Ichthyosis.

Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.

Harlequin Fetus in a Twin Pregnancy: An Extremely Rare Presentation.

Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis.

High prevalence of autosomal recessive congenital ichthyosis in a Mexican population caused by a new mutation in the TGM1 gene: epidemiological evidence of a founder effect.

Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.

A case of self-improving collodion ichthyosis in Vietnam.

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.

Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese.

Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families.

Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation.

Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis.

Increased melanocytic nevi and lentigines in two patients with harlequin ichthyosis.

Safe and effective use of alitretinoin in children with recalcitrant hand eczema and other dermatoses - a retrospective analysis.

Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017.

Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis.

Bathing suit ichthyosis: Two Burmese siblings and a review of the literature.

Management of ocular manifestations of autosomal recessive congenital ichthyosis 4B, harlequin type, in the perinatal period.

Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab.

Case Report: Corneal Ulceration from Bilateral Ectropion Due to Congenital Ichthyosis.

Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production.

Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.

Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma.

Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect.

Molecular Genetic Study of a Large Inbred Pakistani Family Affected with Autosomal Recessive Congenital Ichthyosis Through Whole Exome Sequencing.

Inherited ichthyoses: molecular causes of the disease in Czech patients.

Impaired epidermal barrier in autosomal recessive congenital ichthyosis (ARCI) caused by missense mutations in SDR9C7 in two Austrian sisters.

Proteomic manifestations of genetic defects in autosomal recessive congenital ichthyosis.

Human stratum corneum proteomics reveals cross-linking of a broad spectrum of proteins in cornified envelopes.

Italian translation, cultural adaptation, and pilot testing of a questionnaire to assess family burden in inherited ichthyoses.

NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy.

Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients.

Impairment of lipophagy by PNPLA1 mutations causes lipid droplet accumulation in primary fibroblasts of Autosomal Recessive Congenital Ichthyosis patients.

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

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

Mutations in Recessive Congenital Ichthyoses Illuminate the Origin and Functions of the Corneocyte Lipid Envelope.

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

Patients with congenital ichthyosis and TGM1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response?

The role of PNPLA1 in ω-O-acylceramide synthesis and skin barrier function.

Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan.

Use of Topical Glycolic Acid Plus a Lovastatin-Cholesterol Combination Cream for the Treatment of Autosomal Recessive Congenital Ichthyoses.

[Harlequin ichthyosis with a diaphragmatic hernia and a new mutation].

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.

Uniparental disomy as a mechanism for CERS3-mutated autosomal recessive congenital ichthyosis.

Characterization of Epidermal Lipoxygenase Expression in Normal Human Skin and Tissue-Engineered Skin Substitutes.

Identification and association of recurrent ALOXE3 mutation with non-bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families.

ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications.

Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study.

Lamellar ichthyosis in a female neonate without a collodion membrane.

Whole-exome sequencing for diagnosis of hereditary ichthyosis.

A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5.

Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis.

Decreased Skin Barrier Lipid Acylceramide and Differentiation-Dependent Gene Expression in Ichthyosis Gene Nipal4-Knockout Mice.

Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis.

Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis.

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.

Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis.

Ectropion Improvement with Topical Tazarotene in Children with Lamellar Ichthyosis.

Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.

Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.

Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.

Whole-exome sequencing identified a novel frameshift mutation in SDR9C7 underlying autosomal recessive congenital ichthyosis in a Pakistani family.

PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier.

Case of harlequin ichthyosis with a favorable outcome: Early treatment and novel, differentially expressed, alternatively spliced transcripts of the ATP-binding cassette subfamily A member 12 gene.

PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis.

A Nonsense Variant in the ST14 Gene in Akhal-Teke Horses with Naked Foal Syndrome.

Congenital Ichthyosis: A Case Treated Successfully With Acitretin.

Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis.

A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs.

Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function.

Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis.

Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.

A novel deletion mutation in the ALOX12B gene in a Kurdish family with autosomal recessive congenital ichthyosis.

Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis.

PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides.

Two missense mutations in CYP4F22 in autosomal recessive congenital ichthyosis.

An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis.

Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations.

Identification mouse patatin-like phospholipase domain containing protein 1 as a skin-specific and membrane-associated protein.

Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever-poodle cross-bred dog and the effect of topical therapy.

Comparing histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation: A report from the National Registry for Ichthyosis and Related Skin Disorders.

Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families.

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.

Functional study of TGM1 missense mutations in autosomal recessive congenital ichthyosis.

Novel ALOX12B Mutation Identified in Parents following Single Nucleotide Polymorphism Microarray Testing of Banked DNA from a Fatal Case of Congenital Ichthyosis.

Inherited ichthyosis: Non-syndromic forms.

Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family.

Vitamin D: A New Promising Therapy for Congenital Ichthyosis.

Short stature with congenital ichthyosis.

Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby.

Gaucher Disease Type 2 Presenting with Collodion Membrane and Blueberry Muffin Lesions.

Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy.

Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature.

Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.

Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis.