• A case of self-improving collodion ichthyosis associated with a rare variant of the ALOX12B gene
• A Case Report of a Collodion Baby: An Autosomal Recessive Genodermatosis
• A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis
• Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis
• An infant with lamellar ichthyosis presenting with meningitis
• Autosomal recessive ALOX12B gene and consecutive collodion baby
• Autosomal recessive congenital ichthyosis due to novel CYP4F22 mutation presenting with a collodion membrane and ocular manifestations
• Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin
• Case report of self-improving collodion ichthyosis in the newborn
• 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
• Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review
• Congenital ichthyosis presentation and outcome - A case series
• Congenital ichthyosis: a multidisciplinary approach in a neonatal care unit
• Cross-sectional study on autosomal recessive congenital ichthyoses: association of genotype with disease severity, phenotypic and ultrastructural features in 74 Italian patients
• Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients
• Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis
• 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
• Harlequin ichthyosis, prenatal diagnosis: the ultrasound recognition
• High TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the "Reunion Paradox"
• Identification and <em>In Silico</em> Analysis of a Homozygous Nonsense Variant in <em>TGM1</em> Gene Segregating with Congenital Ichthyosis in a Consanguineous Family
• Lamellar ichthyosis with a novel NIPAL4 variant showing dramatic response to high-dose vitamin D therapy
• Mutational Spectrum of the <em>ABCA12</em> Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis
• Novel Compound Heterozygous Mutations of <em>TGM1</em> Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma
• Novel Pathogenic Mutation of <em>PNPLA1</em> Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report
• Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population
• Patients with autosomal recessive congenital ichthyosis present a distinctive pattern of alopecia
• Patients with keratinization disorders due to ABCA12 variants showing pityriasis rubra pilaris phenotypes
• Phase IIb randomized CONTROL study demonstrates a novel topical isotretinoin formulation, TMB-001, is safe and effective in participants with either recessive X-linked or autosomal recessive lamellar congenital ichthyosis
• Precision medicine approach in a rare case of autosomal recessive congenital ichthyosis
• Prenatal ultrasound detection of collodion membrane in association with an autosomal recessive congenital ichthyosis due to transglutaminase 1 deficiency
• Psychosocial impact of severe autosomal recessive congenital ichthyosis
• Recombinant PNPLA1 catalyzes the synthesis of acylceramides and acyl acids with selective incorporation of linoleic acid
• SDR9C7 missense variant in a Chihuahua with non-epidermolytic ichthyosis
• Topical Isotretinoin (TMB-001) Treatment for 12 Weeks Did Not Result in Clinically Relevant Laboratory Abnormalities in Participants with Congenital Ichthyosis in the Phase 2b CONTROL Study
• Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants