Disease: Lamellar 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 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
- 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
- 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
- Case report of self-improving collodion ichthyosis in the newborn
- 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
- 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, prenatal diagnosis: the ultrasound recognition
- 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 "Réunion Paradox"
- Ichthyosis as a manifestation of fetal gaucher
- Ichthyosis: multinational European study on patient characteristics, involved body sites and impact on quality of life
- 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
- KLK11 ichthyosis: large truncal hyperkeratotic pigmented plaques underscore a distinct autosomal dominant disorder of cornification
- 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
- 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
- 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
- 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
- Ponatinib-induced lamellar ichthyosis-like drug eruption
- 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
- 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
- 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