Neonatal Erythroderma: Diagnostic Challenges and the Limitations of Genetic Testing.

Recessive mosaicism in ABCA12 causes a unique phenotype of segmental congenital ichthyosiform erythroderma mimicking erythrokeratodermia variabilis.

Evaluation of the Efficacy of Transglutaminase 1 Gene Delivery by Adeno-Associated Virus into Rat and Pig Skin and Safety of ARCI Gene Therapy.

A novel mutation in the transglutaminase-1 gene identified in a collodion baby: A case report.

Netherton Syndrome: A Comprehensive Literature Review of Pathogenesis, Clinical Manifestations, and Therapeutic Strategies.

Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection.

Autosomal Recessive Congenital Ichthyosis Due to Heterozygote Variants in the ALOX12B gene Presenting as Mild Nonbullous Congenital Ichthyosiform Erythroderma.

Netherton Syndrome Perspectives.

The First Reported Japanese Case of PNPLA1-Nonsyndromic Epidermal Differentiation Disorder (PNPLA1-nEDD) Associated With an Unreported 92-Base-Pair Duplication Variant.

Bilateral renal vein thrombosis in a preterm with Netherton syndrome.

Blaschkoid Presentation of Congenital Ichthyosiform Erythroderma with Novel ABCA12 Mutation.

Gaucher disease with severe congenital ichthyosiform erythroderma in two siblings.

A novel variant c.7104 + 6T > A of ABCA12 linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay.

Off-label dermatologic uses of IL-23 inhibitors.

Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control.

Biologics in congenital ichthyosis: are they effective?

Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis.

Netherton Syndrome in Thai Children: A Report of Two Cases With a Literature Review.

Four cases of Chanarin-Dorfman syndrome presenting with different types of erythrokeratoderma.

Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review.

Interprofessional Collaboration: Differentiating Netherton Syndrome and Atopic Dermatitis in an African American Infant.

Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.

Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.

Autosomal recessive ALOX12B gene and consecutive collodion baby.

Clinical decision support system supported interventions in hospitalized older patients: a matter of natural course and adequate timing.

The presence of white cell Jordan's anomaly in multiple Acyl-CoA dehydrogenase deficiency: A case report and implications for clinical practice.

Correlation analysis between peripheral blood dendritic cell subsets and PD-1 in patients with peritoneal adenocarcinoma.

The effect of computerised decision support alerts tailored to intensive care on the administration of high-risk drug combinations, and their monitoring: a cluster randomised stepped-wedge trial.

Comprehensive Analysis of the Complete Mitochondrial Genome of Rehmannia chingii: An Autotrophic Species in the Orobanchaceae Family.

Evaluating the challenges and needs of parents caring for children with Williams syndrome: A preliminary study from Poland.

Neutral lipid storage disease with myopathy: clinicopathological and genetic features of nine Iranian patients.

Congenital ichthyosis presentation and outcome - A case series.

Case report: Interleukin-17 targeted biological therapy in netherton syndrome.

Novel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma.

Psychosocial impact of severe autosomal recessive congenital ichthyosis.

Chanarin-Dorfman Syndrome diagnosed at the stage of liver transplantation: A rare lipid storage disease.

Investigation of (Epi)genetic causes in syndromic short children born small for gestational age.

Patients with keratinization disorders due to ABCA12 variants showing pityriasis rubra pilaris phenotypes.

Digitalizing Clinical Guidelines: Experiences in the Development of Clinical Decision Support Algorithms for Management of Childhood Illness in Resource-Constrained Settings.

HyperCKemia: An early sign of childhood-onset neutral lipid storage disease with myopathy.

Endotoxin-Tolerance Mimicking to Study TLR in Promotion of Tolerogenic DCs and Tr1 Cells.

Fabrication of CdS quantum dots with egg white and application in the assay of hypochlorous acid and myeloperoxidase activity and inhibition.

Assessing the use of dupilumab in a pediatric patient with bullous congenital ichthyosiform erythroderma.

Secukinumab for Netherton syndrome: a Malaysian experience.

Treatment of Netherton syndrome with upadacitinib.

Usability Assessment of an Electronic Medical Record-Embedded Clinical Decision Support System for Arterial Blood Gas Interpretation.

Percutaneous Bone-Anchored Hearing Implant Surgery: Do Syndromic Children Have More Adverse Perioperative Outcomes?

The impact of parental psychological distress on child behavior issues in hospitalized children.

A retrospective study on the liver toxicity of oral retinoids in Chanarin-Dorfman syndrome.

A drug recommender system for the treatment of hypertension.

Congenital ichthyosiform erythroderma with epidermolysis due to a novel frameshift mutation in KRT10.

A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter.

Neutral lipid storage disease with myopathy with a novel homozygous PNPLA2 variant.

Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.

Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M (NLSD-M) Patients.

A rare case of hepatoblastoma in a syndromic child with a de novo germline JAG1 mutation.

Could "Islets of Sparing" Be a Clue for Neutral Lipid Storage Disease with Ichthyosis in Patients with Congenital Ichthyosiform Erythroderma?

Congenital ichthyosis: a multidisciplinary approach in a neonatal care unit.

Developmental cataract in congenital ichthyosis.

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.

Current "state of the art" on dendritic cell-based cancer vaccines in melanoma.

Effective treatment of Netherton syndrome in children with dupilumab: a case report and review of the literature.

Bilateral verruciform lesions: A new CHILD syndrome presentation.

Late onset of neutral lipid storage disease due to a rare PNPLA2 mutation in a patient with myopathy and cardiomyopathy.

Impact of disease-modifying therapy on dendritic cells and exploring their immunotherapeutic potential in multiple sclerosis.

Vulnerable Child Syndrome in the International Community.

Dual-modified starch nanoparticles containing aromatic systems with highly efficient encapsulation of curcumin and their antibacterial applications.

β-Glucosylceramides and Tocopherols Regulate Development and Function of Dendritic Cells.

Two distinct syndromic children with T-acute lymphoblastic leukemia: Noonan syndrome and Sotos syndrome.

Ceramide Analysis in Combination With Genetic Testing May Provide a Precise Diagnosis for Self-Healing Collodion Babies.

Multisystem inflammatory syndrome in neonates associated with SARS-CoV-2 infection, a different entity?

Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand.

Novel homozygous missense mutation c.1654G>T in the ALOX12B gene causing congenital ichthyosiform erythroderma.

Congenital ichthyosiform erythroderma due to a CYP4F22 mutation responds to ustekinumab: A case report and review of the literature.

A novel mutation in SPINK5 gene underlies a case of atypical Netherton syndrome.

Maternal Supplementation of Probiotics, Prebiotics or Postbiotics to Prevent Offspring Metabolic Syndrome: The Gap between Preclinical Results and Clinical Translation.

When to Recommend a Peripheral Blood Smear to Patients with Congenital Ichthyosiform Erythroderma.

Limited dorsal myeloschisis without extradural stalk continuity to coexisting congenital dermal sinus.

Secukinumab in the treatment of a child with congenital ichthyosiform erythroderma with ABCA12 mutation.

Impaired epidermal barriers in congenital ichthyoses house a changing microbial landscape.

Generalized blistering and erythroderma in a young girl.

Recalcitrant erythrodermic ichthyosis with atopic dermatitis successfully treated with Dupilumab in combination with Guselkumab.

Distinct skin microbiome community structures in congenital ichthyosis.

[Brain-lung-thyroid syndrome in a newborn with deletion 14q12-q21.1].

Spontaneous and ART-induced large offspring syndrome: similarities and differences in DNA methylome.

Transcriptomic Analysis of the Major Orphan Ichthyosis Subtypes Reveals Shared Immune and Barrier Signatures.

Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.

Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report.

Safety, tolerability, and efficacy of a novel topical isotretinoin formulation for the treatment of X-linked or lamellar congenital ichthyosis: Results from a phase 2a proof-of-concept study.

Understanding immune profiles in ichthyosis may lead to novel therapeutic targets.

Secukinumab responses vary across the spectrum of congenital ichthyosis in adults.

The prevalence, risk of premature births, mortality and causes of death of cleft lip with or without palate in South Korea: a nationwide population-based cohort study.

Classic and Simultaneous Clinical Findings of an Exuberant Case of Netherton Syndrome: A Clinical Report.

[The use of clinical molecular and genetic tests in forensic medical opinions].

A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient.

Oral manifestations of multisystemic inflammatory syndrome in children (MIS-C) and Kawasaki disease associated to COVID-19: A systematic review.

A multicenter study on quality of life of the "greater patient" in congenital ichthyoses.

Anakinra in Refractory Multisystem Inflammatory Syndrome in Children (MIS-C).

Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling.

Netherton syndrome associated to Candida parapsilosis otomycosis.

Otorhinolaryngologic anomalies in children and young adults with congenital ichthyoses and keratinization disorders: Prospective assessment in a multidisciplinary clinic.

A Case of Annular Epidermolytic Ichthyosis Resulting from a de Novo Mutation, p.I479T, in Keratin 1 Gene.

New compound heterozygous SPINK5 mutations in a Chinese infant with Netherton syndrome.

Netherton Syndrome in Children: Management and Future Perspectives.

The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study.

Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.

Characteristics of children with Netherton syndrome: a review of 21 patients.

Prenatal diagnosis of harlequin ichthyosis by ultrasonography: a case report.

Vulnerable child syndrome in the neonatal intensive care unit: A review and a new preventative intervention with feasibility and parental satisfaction data.

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.

Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases.

Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients.

CHILD syndrome in a Malaysian adult with identification of a novel heterozygous missense mutation NSDHL c.602A>G.

Netherton syndrome: Temporary response to dupilumab.

Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient.

Cardiac anomalies in microtia patients at a tertiary pediatric care center.

A novel SPINK5 mutation and successful subcutaneous immunoglobulin replacement therapy in a child with Netherton syndrome.

Vulnerable child syndrome in everyday paediatric practice: A condition deserving attention and new perspectives.

Annular epidermolytic ichthyosis with palmoplantar keratosis: a unique phenotype associated with interfamilial phenotypic heterogeneity.

Appending the appendages: New perspectives on Netherton syndrome and green nail syndrome.

Netherton's Syndrome: A Case of Two Male Siblings Diagnosed in Adulthood.

A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings.

Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity.

Congenital ichthyosiform erythroderma: A rare neonatal dermatoses responding to acitretin.

Increased melanocytic nevi and lentigines in two patients with harlequin ichthyosis.

Cushing disease in a patient with nonbullous congenital ichthyosiform erythroderma: lessons in avoiding glucocorticoids in ichthyosis.

Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma.

Epidermolytic hyperkeratosis: clinical update.

Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene.

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.

Congenital ichthyoses: there is always more to learn about managing these rare and complex diseases.

Ankyloblepharon-ectodermal dysplasia-clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work.

Consensus, collaboration and care coordination.

Liver Cirrhosis From Chronic Hypervitaminosis A Resulting in Liver Transplantation: A Case Report.

Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.

Novel ABCA12 compound heterozygous mutations identified in a patient with congenital ichthyosiform erythroderma and aortopulmonary window.

Netherton Syndrome: A Case Report and Review of Literature.

Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan.

Collodion baby case series: the success of oral retinoic acid.

Netherton syndrome: A neonatal case with respiratory insufficiency.

Juvenile Open Angle Glaucoma With Nonbullous Congenital Ichthyosiform Erythroderma.

Identification and association of recurrent ALOXE3 mutation with non-bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families.

[Analysis of a neonate with bullous congenital ichthyosiform erythroderma with next generation sequencing].

Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents.

Ichthyosis molecular fingerprinting shows profound TH17 skewing and a unique barrier genomic signature.

Mindfulness-Based Cognitive Hypnotherapy and Skin Disorders.

High frequency of primary hereditary ichthyoses in the North-East region of Cairo, Egypt.

Hearing impairment: A secondary symptom in a congenital ichthyosiform erythroderma patient with ABCA12 mutations.

The Major Orphan Forms of Ichthyosis Are Characterized by Systemic T-Cell Activation and Th-17/Tc-17/Th-22/Tc-22 Polarization in Blood.

Recurrent terbinafine resistant Trichophyton rubrum infection in a child with congenital ichthyosis.

Mild case of congenital ichthyosiform erythroderma with periodic exacerbation: Novel mutations in ABCA12 and upregulation of calprotectin in the epidermis.

Phage Therapy in a 16-Year-Old Boy with Netherton Syndrome.

Invasive Melanoma in a Patient with Congenital Ichthyosiform Erythroderma.

An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis.

Congenital Ichthyosis - Collodion Baby Case Report.

The Arid Melancholy-Netherton Syndrome With Protein Energy Malnutrition.

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.

Use of the frozen section 'jelly-roll' technique to aid in the diagnosis of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis).

Inherited ichthyosis: Non-syndromic forms.

Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl.

Congenital Ichthyosiform Erythroderma Superimposed with Chronic Dermatophytosis: A Report of Three Siblings.

Collodion Baby with TGM1 gene mutation.

Ichthyosis with confetti: clinics, molecular genetics and management.

Dental Treatment of a Child Suffering from Non-bullous Congenital Ichthyosiform Erythroderma under General Anesthesia.

Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction.

Chanarin Dorfman syndrome: a case report with novel nonsense mutation.

Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis.

Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.

A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis.

Annular epidermolytic ichthyosis: a rare phenotypic variant of bullous congenital ichthyosiform erythroderma.

Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation.

ABCA12-deficient Congenital Ichthyosiform Erythroderma in a Boy with an Intellectual Developmental Delay.