• <em>Snap29</em> mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome
• A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
• A novel claudin-10 mutation with a unique mechanism in two unrelated families with HELIX syndrome
• A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response
• ABHD5 stimulates PNPLA1-mediated ω-<em>O</em>-acylceramide biosynthesis essential for a functional skin permeability barrier
• Acral collodion membrane associated with ichthyosis due to a heterozygous pathogenic variant of ELOVL4 gene
• Advanced Anterior Eye Segment Imaging for Ichthyosis
• Ankyloblepharon-ectodermal dysplasia-clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work
• Antenatal Findings of Keratitis-Ichthyosis-Deafness Syndrome
• Apremilast Use in a Case of Cicatricial Ectropion Secondary to Severe Lamellar Ichthyosis
• Beyond retina in Sjogren-Larsson syndrome
• Bilateral viral keratitis in lamellar ichthyosis: A rare ocular manifestation
• Biotinidase deficiency in a newborn
• Case Report: Corneal Ulceration from Bilateral Ectropion Due to Congenital Ichthyosis
• Chanarin-Dorfman syndrome
• Ciliopathy: Sjögren-Larsson Syndrome
• Clinical clues to the early diagnosis and management of ocular surface neoplasia following keratoplasty in xeroderma pigmentosa
• Clinical features, surgical outcomes and genetic analysis of ectodermal dysplasia with ocular diseases
• Clinicopathologic and trichoscopic features of keratosis follicularis spinulosa decalvans: A case series study
• Collodion baby with ectropion in a Syrian newborn: a case report study
• Combined medical and surgical management for cicatricial ectropion in lamellar ichthyosis: A report of three cases
• Congenital Ichthyosis: A Practical Clinical Guide on Current Treatments and Future Perspectives
• Congenital upper eyelids ectropion in Down's syndrome
• Conradi-Hünermann-Happle syndrome with minimal signs
• Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents
• Corneal Perforation as a Rare Ocular Manifestation in Lamellar Ichthyosis: Case Report and Literature Review
• Corneal ulcer secondary to ectropion in lamellar Ichthyosis: A rare congenital disorder
• Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis
• Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence
• Description of breed ancestry and genetic health traits in arctic sled dog breeds
• Developmental cataract in congenital ichthyosis
• Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics
• Diseases, conditions, and drugs associated with cicatricial ectropion
• Distribution of ELOVL4 in the Developing and Adult Mouse Brain
• Dry eye and Meibomian gland dysfunction with meibography in patients with lamellar ichthyosis
• ELOVL4 with erythrokeratoderma: A pediatric case and emerging genodermatosis
• ELOVL4: Very long-chain fatty acids serve an eclectic role in mammalian health and function
• End-stage crystalline maculopathy with retinal atrophy in Sjögren-Larsson syndrome: a case report and review of the literature
• Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis
• Exploration of novel candidate genes involved in epidermal keratinocyte differentiation and skin barrier repair in man
• Eyelash length for the diagnosis of atopic dermatitis and ichthyosis vulgaris in children-a case control study
• Filaggrin-Associated Atopic Skin, Eye, Airways, and Gut Disease, Modifying the Presentation of X-Linked Reticular Pigmentary Disorder (XLPDR)
• Ichthyosis
• Identification of a novel partial deletion of <em>STS</em> associated with pre-Descemet corneal dystrophy and X-linked ichthyosis
• Identification of a novel partial deletion of STS associated with pre-Descemet corneal dystrophy and X-linked ichthyosis
• Impaired production of the skin barrier lipid acylceramide by CYP4F22 ichthyosis mutations
• In vivo confocal microscopy of pre-Descemet corneal dystrophy associated with X-linked ichthyosis: a case report
• Infectious Keratitis in a 23-Year-Old Patient With Netherton Syndrome
• Juvenile Open Angle Glaucoma With Nonbullous Congenital Ichthyosiform Erythroderma
• Keratitis-ichthyosis-deafness Syndrome with Heterozygous p.D50N in the <em>GJB2</em> Gene in Two Serbian Adult Patients
• Keratitis-ichthyosis-deafness Syndrome with Heterozygous p.D50N in the GJB2 Gene in Two Serbian Adult Patients
• Keratoprosthesis in pediatric keratitis-icthyosiform-deafness syndrome
• Keratosis follicularis spinulosa decalvans-like cicatricial alopecia in a patient with cardiofaciocutaneous syndrome
• Keratosis Pilaris and its Subtypes: Associations, New Molecular and Pharmacologic Etiologies, and Therapeutic Options
• Lamellar ichthyosis in a female neonate without a collodion membrane
• Late-Stage Sjögren-Larsson Syndrome Maculopathy Imaged With OCT Angiography
• Limbal Stem Cell Dysfunction in Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome
• Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling
• Macular fibrosis complicating macular pigment deficient maculopathy in Sjögren-Larsson syndrome
• Management of ocular manifestations of autosomal recessive congenital ichthyosis 4B, harlequin type, in the perinatal period
• Molecular Functionality of Cytochrome P450 4 (CYP4) Genetic Polymorphisms and Their Clinical Implications
• Mulitmodal Corneal Imaging of Genetically Confirmed Keratitis-Ichthyosis-Deafness Syndrome
• Multimodal Imaging of Pre-Descemet Corneal Dystrophy Associated With X-Linked Ichthyosis and Deletion of the STS Gene
• Multiple Sulfatase Deficiency from an Ophthalmologist's Perspective-Case Report and Literature Review
• Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
• Non-surgical management of congenital ichthyosis using hyaluronic acid gel injection
• Novel Cellular Functions of Very Long Chain-Fatty Acids: Insight From ELOVL4 Mutations
• Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis
• Ocular manifestation of Ichthyosis
• Ocular manifestations of skin diseases with pathological keratinization abnormalities
• Ocular manifestations, complications and management of congenital ichthyoses: a new look
• Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome
• Ocular Surface Stem Cell Transplantation for Treatment of Keratitis-Ichthyosis-Deafness Syndrome
• Ophthalmic Consequences of Ichthyosis and the Role of Systemic Retinoids
• OPHTHALMIC FINDINGS IN LATE STAGE SJOGREN-LARSSON SYNDROME
• Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population
• Ophthalmic Review on Neonatal Harlequin Ichthyosis
• Progression of eyelid abnormalities in a collodion baby type newborn with congenital ichthyosis
• Prominent corneal nerves in pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B
• Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation
• Recognition and management of congenital ichthyosis in a low-income setting
• Recurrent corneal ulcers as presenting sign of KID syndrome in a 68-year-old man
• Retinal Morphology in Sjögren-Larsson Syndrome on OCT: From Metabolic Crystalline Maculopathy to Early-Onset Macular Degeneration
• Severe Bilateral Ectropion in Lamellar Ichthyosis: A Case Report
• Severe ectropion in lamellar ichthyosis managed medically with oral acitretin
• Severe Phenotype of Keratitis-Ichthyosis-Deafness Syndrome With Presumed Ocular Surface Squamous Neoplasia
• Sight-threatening Complication of Cicatricial Ectropion in a Patient with Lamellar Ichthyosis - Case Report
• Sjögren-Larsson syndrome: a complex metabolic disease with a distinctive ocular phenotype
• Sjogren's syndrome: An update on disease pathogenesis, clinical manifestations and treatment
• Skin diseases associated with atopic dermatitis
• Spontaneous subconjunctival abscess in congenital lamellar ichthyosis
• STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice
• Successful correction of ichthyosis-related ectropion by autografts
• Successfully Improving Visual Acuity in Keratitis-Ichthyosis-Deafness Syndrome Utilizing Gas-Permeable Lenses: A Case Report
• The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies
• The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds
• Triple retinal arterial macroaneurysms in a hypertensive patient with hypothyroidism
• Two Italian Patients with <em>ELOVL4</em>-Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization
• Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization
• Use of Systemic Mycophenolate Mofetil Therapy in Ocular Surface Inflammatory Pathologies at the Initiative and Responsibility of the Ophthalmologist