Disease: Harlequin ichthyosis
- 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
- Acquired ichthyosis, asteatotic dermatitis or xerosis? An update on pathoetiology and drug-induced associations
- 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
- ALOX12B and PNPLA1 Have Distinct Roles in Epidermal Lipid Lamellar Organization
- An infant with lamellar ichthyosis presenting with meningitis
- An Update and Report Failure of Surgical Syndactyly Repair in Harlequin Ichthyosis
- 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 recessive <em>ALOX12B</em> gene and consecutive collodion baby
- 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 > 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
- Ceramide Analysis in Combination With Genetic Testing May Provide a Precise Diagnosis for Self-Healing Collodion Babies
- Ceramide profiling of stratum corneum in Sjögren-Larsson syndrome
- 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
- Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand
- 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
- 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
- CYP4F22 p.V215D is a novel variant causative for lamellar ichthyosis
- 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
- Harlequin ichthyosis newborn: A case report
- Harlequin ichthyosis, prenatal diagnosis: the ultrasound recognition
- Harlequin ichthyosis: A case image from Syria
- Harlequin ichthyosis: A case report and literature review
- 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
- Impaired epidermal barriers in congenital ichthyoses house a changing microbial landscape
- Impaired production of skin barrier lipid acylceramides and abnormal localization of PNPLA1 due to ichthyosis-causing mutations in PNPLA1
- 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 mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
- 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
- PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis
- 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
- 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
- Secukinumab significantly reduces inflammation but only mildly improves scaling in four cases of autosomal recessive congenital ichthyosis
- Severe Bilateral Ectropion in Lamellar Ichthyosis: A Case Report
- The CONTROL study: A randomized, double-blind vehicle-controlled phase 2b study of novel topical isotretinoin formulation demonstrates improvement in recessive X-linked and autosomal recessive lamellar congenital 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
- When to Recommend a Peripheral Blood Smear to Patients with Congenital Ichthyosiform Erythroderma
- Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis