Efficacy of Upadacitinib in a Middle-Aged Man With Netherton Syndrome Refractory to Dupilumab: A Case Report.

Netherton Syndrome Masquerading as Pustular Psoriasis.

Neonatal Netherton syndrome: Dermoscopic clues for early diagnosis.

SPINK5 Variants Drive Clinical Variability in Netherton Syndrome Through Th2/Th17 Skewing and Influence Therapeutic Outcomes.

Dysregulated proteolytic cascades in Netherton syndrome: from molecular pathology to preclinical drug testing.

Netherton Syndrome: A Systematic Review of the Challenges of Diagnosis and Treatment.

Netherton Syndrome With Trichorrhexis Invaginata "Bamboo Hair" Under Dermoscopy: Case Images.

The Therapeutic Efficacy and Safety of JAK Inhibitors and Protease Inhibitors for Netherton Syndrome: A Systematic Review.

Netherton Syndrome - Responding to Oral Retinoids.

Netherton syndrome: growth and endocrine assessment in a retrospective study of 37 paediatric patients.

LEKTI-Grafted Sunflower Trypsin Inhibitor: A Potential Therapeutic for Skin Diseases.

Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.

Preterm twin infant with Netherton syndrome.

Netherton syndrome: effect on ichthyosis linearis circumflexa with dupilumab.

Immunological phenotype and skin modeling of Netherton syndrome.

Atopic dermatitis in inborn errors of immunity: at the interface of immunodeficiency and immune dysregulation.

Clinical and immunological characterization of a Netherton syndrome infant with a large SPINK gene cluster deletion and a c.1258A>G polymorphism in SPINK5.

A Case of Netherton Syndrome/SPINK5-Syndromic Epidermal Differentiation Disorder Evaluated by Serial Tape-Stripping: Persistent Elevation of Serine Protease Activities Despite Clinical Improvement.

Clinical characteristics of Netherton syndrome and exploration of targeted biologic therapy: two case reports.

Unveiling serine protease activity profiles in Netherton syndrome skin across clinical subtypes by noninvasive analysis.

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

Biologics and Small-Molecule Therapies in Netherton Syndrome: A Comprehensive Review.

Dupilumab improves skin microbiome in a paediatric case of Netherton syndrome.

The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases.

Successful management of Netherton syndrome using IVIG and dupilumab: A case report.

Global Burden of Allergies: Mechanisms of Development, Challenges in Diagnosis, and Treatment.

Skin lamellar bodies: a unique set of lysosome-related organelles.

Netherton Syndrome Perspectives.

Bilateral renal vein thrombosis in a preterm with Netherton syndrome.

[Clinical feature and genetic analysis of a preterm infant with Netherton syndrome due to variants of SPINK5 gene].

Blocking of IL-4/IL-13 Signalling With Dupilumab Results in Restoration of Serum and Cutaneous Abnormalities in Netherton Syndrome.

Omalizumab: a broader role in dermatology? Evidence and the road ahead.

Secukinumab as a Novel Treatment for Chronic Netherton Syndrome in a Young Adult.

Management of congenital ichthyoses: guidelines of care: Part two: 2024 update.

Syndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.

Abrocitinib alleviates the symptoms of Netherton syndrome and is well tolerated.

Hyper IgE Syndromes: Understanding, Management, and Future Perspectives: A Narrative Review.

Chemical Suppression of KLK5 and KLK7 Rescues Barrier Integrity in a Netherton Syndrome Model.

The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome.

Systemic JAK inhibitors for treatment of cutaneous manifestations in a patient with SPINK5 variants: A case report and review of the literature.

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

Developing a Core Outcome Set for Netherton Syndrome: An International Multi-Stakeholder e-Delphi Consensus Study.

Polysaccharide, Conjugate, and mRNA-based Vaccines are Immunogenic in Patients with Netherton Syndrome.

Biologics in congenital ichthyosis: are they effective?

Rapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.

Spesolimab, the first-in-class anti-IL-36R antibody: From bench to clinic.

Upadacitinib shows efficacy in Netherton syndrome with poor response to Dupilumab.

Interleukin-36 Is Highly Expressed in Skin Biopsies from Two Patients with Netherton Syndrome.

A combination therapy with secukinumab and dupilumab in Netherton syndrome: A prospective pilot study.

Treatment of Netherton syndrome with spesolimab.

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

A Netherton syndrome infant complicated with infective endocarditis.

Successful treatment of dupilumab-resistant scaly erythroderma in Netherton syndrome with baricitinib: A case report.

Recombinant scFv-Fc Anti-kallikrein 7 Antibody-Loaded Thermosensitive Hydrogels Against Skin Desquamation Disorders.

Measurement of clinical outcomes of Netherton syndrome following treatment with upadacitinib.

Effective treatment of topical corticosteroid-resistant dermatitis with delgocitinib in a pediatric patient with Netherton syndrome.

The role of interleukin-36 in health and disease states.

Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report.

Netherton syndrome-A therapeutic challenge in childhood.

Treatment of Netherton Syndrome in Pediatrics with Upadacitinib.

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

Development of a back-titration assay to quantitate functional lympho-epithelial Kazal-type inhibitors (LEKTI) in skin samples.

Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations.

Personal, financial and time burden in inherited ichthyoses: A survey of 144 patients in a university-based setting.

Dermoscopic and reflectance confocal microscopy features of Netherton syndrome.

Successful infliximab treatment in siblings with Netherton syndrome: Unveiling a novel SPINK5 gene variant and literature review.

Netherton Syndrome with a Novel Likely Pathogenic Variant c.420del (p.Ser141ProfsTer5) in SPINK5 Gene: A Case Report.

Netherton syndrome and papillomatous lesions-Should we perform human papilloma virus vaccination?

Vulvovaginal involvement in Netherton syndrome: A case report.

Comparative analyses of Netherton syndrome patients and Spink5 conditional knock-out mice uncover disease-relevant pathways.

[A case of neonatal Netherton syndrome].

Emerging Role of the IL-36/IL-36R Axis in Multiple Inflammatory Skin Diseases.

Biologics for inherited disorders of keratinisation: A systematic review.

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

The realistic positioning of UVA1 phototherapy after 25 years of clinical experience and the availability of new biologics and small molecules: a retrospective clinical study.

Unique Usages of Dehydrated Human Amnion Chorion Membrane Allografts in Dermatology.

Severe Hypernatremia as Presentation of Netherton Syndrome.

Pulsed dye laser for facial erythema in Netherton syndrome.

Secukinumab for Netherton syndrome: a Malaysian experience.

Multidimensional response of Dupilumab in a child affected by Netherton syndrome: Improvement of trichorrhexis invaginata.

Treatment of Netherton syndrome with upadacitinib.

Mini-PBPK-Based Population Model and Covariate Analysis to Assess the Complex Pharmacokinetics and Pharmacodynamics of RO7449135, an Anti-KLK5/KLK7 Bispecific Antibody in Cynomolgus Monkeys.

Oral Tofacitinib Therapy for the Effective Management of Netherton Syndrome.

Intravenous immunoglobulin for the management of Netherton syndrome.

Dupilumab in paediatric Netherton syndrome: Can we do better?

Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene.

Report of two sisters with Netherton syndrome successfully treated with dupilumab and review of the literature.

Dupilumab in Inflammatory Skin Diseases: A Systematic Review.

Treatment of Netherton Syndrome With Abrocitinib.

Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population.

Giant condyloma of Buschke-Löwenstein in a Netherton syndrome patient, successfully treated with cryotherapy and intravenous immunoglobulin.

Netherton Syndrome in a Mother and Her Two Children.

Long-term dupilumab therapy in Netherton syndrome with severe atopic manifestations: Case report and review of the literature.

Dupilumab zur Behandlung von Genodermatosen: Eine systematische Übersicht.

Prevalence of and risk factors for nutritional deficiency and food allergy in a cohort of 21 patients with Netherton syndrome.

Netherton syndrome in a Bulgarian patient : Presentation of a case and an update of therapeutic options.

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

Multiplex Proteomic Evaluation in Inborn Errors with Deregulated IgE Response.

Dupilumab in the treatment of genodermatosis: A systematic review.

Biological treatments for pediatric Netherton syndrome.

Dupilumab improves clinical symptoms in children with Netherton syndrome by suppressing Th2-mediated inflammation.

Dual antibody inhibition of KLK5 and KLK7 for Netherton syndrome and atopic dermatitis.

Secukinumab: A life-changing treatment for Netherton syndrome?

Ustekinumab therapy for Netherton syndrome.

Netherton syndrome with chromosome 16p11.2 microduplication in a Chinese infant.

Treatment of Netherton syndrome with dupilumab.

Establishment of a mouse model of Netherton syndrome based on CRISPR/Cas9 technology.

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

A Netherton syndrome case report: Response to dupilumab treatment.

Novel splice site mutation at the C-terminal of SPINK5 cause a unique Netherton syndrome phenotype mimicking pustular psoriasis.

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

Significant response to Pembrolizumab for metastatic cutaneous squamous cell carcinoma in patient with Netherton syndrome.

Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management.

IgE Sensitization Profile in Patients with Netherton Syndrome.

Multiscale modelling of desquamation in the interfollicular epidermis.

Treatment Experiences with Intravenous Immunoglobulins, Ixekizumab, Dupilumab, and Anakinra in Netherton Syndrome: A Case Series.

Lobelia chinensis Extract and Its Active Compound, Diosmetin, Improve Atopic Dermatitis by Reinforcing Skin Barrier Function through SPINK5/LEKTI Regulation.

New developments in the molecular treatment of ichthyosis: review of the literature.

Phage Display Selected Cyclic Peptide Inhibitors of Kallikrein-Related Peptidases 5 and 7 and Their In Vivo Delivery to the Skin.

Distinct skin microbiome community structures in congenital ichthyosis.

Secukinumab use in the treatment of Netherton's syndrome.

Outcomes of Systemic Treatment in Children and Adults With Netherton Syndrome: A Systematic Review.

SPINK5 mutation and FLG gene deletion in an infant with Netherton syndrome.

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

Human Tissue Kallikreins-Related Peptidases Are Targets for the Treatment of Skin Desquamation Diseases.

Dupilumab Improves Pruritus in Netherton Syndrome: A Case Study.

Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma.

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

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

Erythroderma in a neonate.

The potential role for phage therapy for genetic modification of cutaneous diseases.

A novel pathogenic variant in the corneodesmosin gene causing generalized inflammatory peeling skin syndrome with marked eosinophilia and trichorrhexis invaginata.

Cocktails of KLK5 Protease Inhibitors and Anti-TNFα Therapeutics: an Effective Treatment for Netherton Syndrome.

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

Analysis of the structure and function of the epidermal barrier in patients with ichthyoses-clinical and electron microscopical investigations.

Skin Microbiota and Clinical Associations in Netherton Syndrome.

Journal club Update on systemic therapies in paediatric dermatology.

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

Keratinocyte differentiation and proteolytic pathways in skin (patho) physiology.

Successful treatment of Netherton syndrome with dupilumab: A case report and review of the literature.

Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient.

Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children.

Importance of Early Genetic Sequencing in Neonates Admitted to NICU with Recurrent Hypernatremia: Results of a Prospective Cohort Study.

Trichorrhexis invaginata and ichthyosiform erythroderma in netherton syndrome.

Netherton Syndrome: Case Report and Review of the Literature.

Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responses.

Syndecan-1 shedding by meprin β impairs keratinocyte adhesion and differentiation in hyperkeratosis.

Pili Torti: A Feature of Numerous Congenital and Acquired Conditions.

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

Generation of a quenched phosphonate activity-based probe for labelling the active KLK7 protease.

Highly branched poly(β-amino ester)s for gene delivery in hereditary skin diseases.

Netherton syndrome associated to Candida parapsilosis otomycosis.

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

A novel theranostic activity-based probe targeting kallikrein 7 for the diagnosis and treatment of skin diseases.

Advances in gene therapy and their application to skin diseases: A review.

Netherton Syndrome in Children: Management and Future Perspectives.

Infliximab therapy in an infant with Netherton syndrome.

Scalp roof tiles.: A new diagnostic sign in neonates with Netherton Syndrome.

Successful dupilumab treatment for ichthyotic and atopic features of Netherton syndrome.

A Potent and Selective Kallikrein-5 Inhibitor Delivers High Pharmacological Activity in Skin from Patients with Netherton Syndrome.

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

Dupilumab: A Review of Present Indications and Off-Label Uses.

Establishment of an induced pluripotent stem cell line (SAHGMUi001-A) from a patient with Netherton syndrome carrying SPINK5 mutation.

Inborn Error of Immunity or Atopic Dermatitis: When to be Concerned and How to Investigate.

A novel SPINK5 donor splice site variant in a child with Netherton syndrome.

Netherton syndrome caused by compound heterozygous mutation, c.80A>G mutation in SPINK5 and large-sized genomic deletion mutation, and successful treatment of intravenous immunoglobulin.

The Whey Acidic Protein WFDC12 Is Specifically Expressed in Terminally Differentiated Keratinocytes and Regulates Epidermal Serine Protease Activity.

Generation of recombinant antibodies against human tissue kallikrein 7 to treat skin diseases.

A New Splice-site Mutation of SPINK5 Gene in the Netherton Syndrome with Different Clinical Features: A Case Report.

Netherton syndrome: Temporary response to dupilumab.

Glucosylated cholesterol in skin: Synthetic role of extracellular glucocerebrosidase.

Protease-Activated Receptor-2 Regulates Neuro-Epidermal Communication in Atopic Dermatitis.

A Case Report on Netherton Syndrome.

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

Duality of Netherton syndrome manifestations and response to ixekizumab.

NRF2 Augments Epidermal Antioxidant Defenses and Promotes Atopy.

Efficient CRISPR-Cas9-Mediated Gene Ablation in Human Keratinocytes to Recapitulate Genodermatoses: Modeling of Netherton Syndrome.

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

Initial Evidence of Distinguishable Bacterial and Fungal Dysbiosis in the Skin of Patients with Atopic Dermatitis or Netherton Syndrome.

Managing syndromic congenital ichthyosis at a tertiary care institute-Genotype-phenotype correlations, and novel treatments.

Successful use of secukinumab in Netherton syndrome.

Transepidermal water loss in the orphan forms of ichthyosis.

The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations.

Successful treatment with dupilumab of an adult with Netherton syndrome.

Pathogenesis-Based Therapy With Repurposed Biologics for Monogenic Inflammatory Skin Disorders.

Secukinumab Therapy for Netherton Syndrome.

Genetic activation of Nrf2 reduces cutaneous symptoms in a murine model of Netherton syndrome.

Netherton Syndrome: Insights into Pathogenesis and Clinical Implications.

Cathelicidin represents a new target for manipulation of skin inflammation in Netherton syndrome.

Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity.

The matriptase-prostasin proteolytic cascade in dermatologic diseases.

Skin barrier lipid enzyme activity in Netherton patients is associated with protease activity and ceramide abnormalities.

Chronic diarrhea in an adolescent girl with a genetic skin condition.

Dermatoscopy of the hair compared to three alternatives for the diagnosis of pediatric Netherton syndrome.

Transgenic Kallikrein 14 Mice Display Major Hair Shaft Defects Associated with Desmoglein 3 and 4 Degradation, Abnormal Epidermal Differentiation, and IL-36 Signature.

Inflammatory Vegetative Lesions of the Perineum: A Rare and Severe Clinical Presentation of Netherton Syndrome.