• A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
• 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 fatal case of Harlequin ichthyosis: Experience from low-resource setting
• A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis
• A novel mutation compounded with a known mutation in TGM1 associated with severe lamellar ichthyosis and intellectual disability
• A sustainable strategy for generating highly stable human skin equivalents based on fish collagen
• A Unique Case of Harlequin Ichthyosis in the Tertiary Health Care System in a Rural Area
• Acral collodion membrane associated with ichthyosis due to a heterozygous pathogenic variant of ELOVL4 gene
• Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2
• Acral Melanoma in an Elderly Patient with Congenital Ichthyosis Vulgaris
• Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis
• An infant with lamellar ichthyosis presenting with meningitis
• Assessing the Application of Large Language Models in Generating Dermatologic Patient Education Materials According to Reading Level: Qualitative Study
• Assessing the Use of Ustekinumab in a Pediatric Patient With Harlequin Ichthyosis
• Assessment of collagen content in fish skin - development of a flow analysis method for hydroxyproline determination
• Autosomal dominant lamellar ichthyosis due to a missense mutation in the gene NKPD1
• Autosomal Dominant Lamellar Ichthyosis Due to a Missense Variant in the Gene NKPD1
• Autosomal Dominant Lamellar Ichthyosis Keeps Surprising Us
• Autosomal recessive <em>ALOX12B</em> gene and consecutive collodion baby
• Autosomal recessive congenital ichthyosis due to novel CYP4F22 mutation presenting with a collodion membrane and ocular manifestations
• Bathing Suit Ichthyosis
• Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin
• Birth incidence and outcome of harlequin ichthyosis and collodion membrane in the UK and Ireland: a national 2-year prospective surveillance study
• Case report of self-improving collodion ichthyosis in the newborn
• Case Report: Novel rare mutation c.6353C &gt; G in the <em>ABCA12</em> gene causing harlequin ichthyosis identified by whole exome sequencing
• Case Report: Novel rare mutation c.6353C > G in the ABCA12 gene causing harlequin ichthyosis identified by whole exome sequencing
• Characteristics and outcomes for participants with congenital ichthyosis who responded to treatment with the topical isotretinoin formulation TMB-001: results from the Phase IIb CONTROL study
• Coexistence of Ichthyosis, Yellowish Keratoderma, and Neurologic Manifestations: Think About Sjogren-Larsson Syndrome
• Collodion baby with ectropion in a Syrian newborn: a case report study
• Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review
• Confetti cure: reversing the genetic kaleidoscope of ichthyosis
• Congenital Ichthyosis
• Congenital ichthyosis presentation and outcome - A case series
• Congenital ichthyosis: a multidisciplinary approach in a neonatal care unit
• Corneal Perforation as a Rare Ocular Manifestation in Lamellar Ichthyosis: Case Report and Literature Review
• Cross-sectional nationwide epidemiologic survey on quality of life and treatment efficacy in Japanese patients with congenital ichthyoses
• 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
• CYP4F22 p.V215D is a novel variant causative for lamellar ichthyosis
• Development of Neutropenia in an Infant with Harlequin Ichthyosis on Acitretin Therapy: A Clinical Quandary
• Developmental cataract in congenital ichthyosis
• Early diagnosis of ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome: A case report
• 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
• Finding treatments to reduce scaling in ichthyosis
• French national protocol for the management of congenital ichthyosis
• Hair follicles modulate skin barrier function
• Hair follicles modulate skin barrier function
• Harlequin ichthyosis newborn: A case report
• Harlequin ichthyosis, prenatal diagnosis: the ultrasound recognition
• Harlequin ichthyosis: A case report and literature review
• Heterozygous DSP in-frame deletion in a poodle with syndromic ichthyosis involving additional hair and tooth abnormalities
• High Levels of Anxiety, Depression, Risk of Suicide, and Implications for Treatment in Patients with Lamellar Ichthyosis
• High TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the "Reunion Paradox"
• Ichthyosis
• Ichthyosis as a manifestation of fetal gaucher
• Ichthyosis Fetalis
• Ichthyosis Fetalis
• Ichthyosis, cataracts, and motor delay in an infant: A case of Chanarin-Dorfman syndrome
• Ichthyosis, petechiae, and arthrogryposis in a neonate
• Ichthyosis: multinational European study on patient characteristics, involved body sites and impact on quality of life
• 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
• Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family
• In-person validation of the Ichthyosis Scoring System
• Integrative Multi-omics Analysis Identifies Genetic Variants Contributing to Non-syndromic Cleft Lip with or without Cleft Palate
• Interleukin-18 as a severity marker and novel potential therapeutic target for epidermolytic ichthyosis
• KLK11 ichthyosis: large truncal hyperkeratotic pigmented plaques underscore a distinct autosomal dominant disorder of cornification
• Lamellar Ichthyosis
• Lamellar ichthyosis with a novel NIPAL4 variant showing dramatic response to high-dose vitamin D therapy
• Locked-in Scale: Full Manifestation of Lamellar Ichthyosis in an Adult with Serious Physical and Social Impairments
• Long-term survival of harlequin ichthyosis in two siblings with novel ABCA12 mutations
• Mutational Spectrum of the <em>ABCA12</em> Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis
• Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis
• New strategies for sterilization and preservation of fresh fish skin grafts
• 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
• Novel Pathogenic Mutation of PNPLA1 Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report
• Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome
• Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population
• Ophthalmic Review on Neonatal Harlequin Ichthyosis
• Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP)
• 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
• Ponatinib-induced lamellar ichthyosis-like drug eruption
• Precision medicine approach in a rare case of autosomal recessive congenital ichthyosis
• Prenatal diagnosis of a fetal harlequin ichthyosis
• Prenatal diagnosis of ichthyosis congenita gravis (Harlequin ichthyosis [HI]) using 3D sonography
• 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
• Retinoid Therapy in a Case of Harlequin Ichthyosis with a Short Literature Review
• SDR9C7 missense variant in a Chihuahua with non-epidermolytic ichthyosis
• The successful treatment of Lamellar Ichthyosis-a plastic surgeons perspective
• 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
• Two- and three-dimensional sonographic findings of harlequin ichthyosis: case report and literature review
• Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants
• Vitamin D Supplementation in Congenital Ichthyosis: A Case Series
• Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis