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

Secukinumab responses vary across the spectrum of congenital ichthyosis in adults

(2022) Rachel Lefferdink et al.   ARCHIVES OF DERMATOLOGICAL RESEARCH

Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis

(2022) Daria S. Chulpanova et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

In vivo topical gene therapy for recessive dystrophic epidermolysis bullosa: a phase 1 and 2 trial

(2022) Irina Gurevich et al.   NATURE MEDICINE

Successful dupilumab treatment for ichthyotic and atopic features of Netherton syndrome

(2021) Chiaki Murase et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

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

(2021) John Liddle et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Correction of the pathogenic mutation in TGM1 gene by adenine base editing in mutant embryos

(2021) Lu Dang et al.   MOLECULAR THERAPY

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

(2021) Jianbo Wang et al.   JOURNAL OF DERMATOLOGY

Rapid improvement of skin lesions in CHILD syndrome with topical 5% simvastatin ointment

(2021) Penelope Kallis et al.   PEDIATRIC DERMATOLOGY

Successful treatment of Netherton syndrome with ustekinumab in a 15‐year‐old girl

(2020) S. Volc et al.   BRITISH JOURNAL OF DERMATOLOGY

Ichthyosis affects mental health in adults and children: A cross-sectional study

(2020) Qisi Sun et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Treatment of Netherton Syndrome With Dupilumab

(2020) Alexa B. Steuer et al.   JAMA Dermatology

Successful dupilumab treatment of an adult with Netherton syndrome

(2020) T.H. Andreasen et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY

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

(2020) Amy S. Paller   JAMA Dermatology

Secukinumab Therapy for Netherton Syndrome

(2020) Isabelle Luchsinger et al.   JAMA Dermatology

Duality of Netherton syndrome manifestations and response to ixekizumab

(2020) Barbieux Claire et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Development of a Pathogenesis‐Based Therapy for Peeling Skin Syndrome Type 1

(2020) F. Valentin et al.   BRITISH JOURNAL OF DERMATOLOGY

Preclinical evaluation of a modified HSV-1 vector encoding human TGM1 for the treatment of autosomal recessive congenital ichthyosis (ARCI).

(2020) John C. Freedman et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Response to dupilumab in two children with Netherton syndrome: Improvement of pruritus and scaling

(2020) K. Süßmuth et al.   JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

Base editing: advances and therapeutic opportunities

(2020) Elizabeth M. Porto et al.   NATURE REVIEWS DRUG DISCOVERY

Netherton syndrome: Temporary response to dupilumab

(2020) Meryem Aktas et al.   PEDIATRIC DERMATOLOGY

Montagna Symposium 2017—Profiling Immune Expression to Consider Repurposing Therapeutics for the Ichthyoses

(2019) Amy S. Paller   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Potent, multi-target serine protease inhibition achieved by a simplified β-sheet motif

(2019) Xingchen Chen et al.   PLoS One

Current and emerging biologic and small molecule therapies for atopic dermatitis

(2019) Randall Li et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

LEKTI domains 6, 7 and 8+9 serve as substrates for transglutaminase 1: implications for targeted therapy of Netherton syndrome

(2019) H. Wiegmann et al.   BRITISH JOURNAL OF DERMATOLOGY

Gene editing-mediated disruption of epidermolytic ichthyosis-associated KRT10 alleles restores filament stability in keratinocytes

(2019) Oliver Patrick March et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

CHILD syndrome: successful treatment of skin lesions with topical lovastatin and cholesterol lotion

(2019) Karina Romero Sandoval et al.   ANAIS BRASILEIROS DE DERMATOLOGIA

Structure guided drug design to develop kallikrein 5 inhibitors to treat Netherton syndrome

(2019) Ann L. Walker et al.   BIOORGANIC & MEDICINAL CHEMISTRY LETTERS

Generation and Clinical Application of Gene-Modified Autologous Epidermal Sheets in Netherton Syndrome: Lessons Learned from a Phase 1 Trial

(2019) Wei-Li Di et al.   HUMAN GENE THERAPY

Gene Therapy for Skin Fragility Diseases: The New Generation

(2019) Ganna Bilousova   JOURNAL OF INVESTIGATIVE DERMATOLOGY

An Excellent Response to Topical Therapy of Four CHILD Syndrome Patients with an Increased Concentration of Simvastatin Ointment

(2019) Xia Yu et al.   JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab

(2019) Cathryn Poulton et al.   PEDIATRIC DERMATOLOGY

ALLELE-SPECIFIC SIRNA CORRECTS ABERRANT CELLULAR PHENOTYPE IN KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME KERATINOCYTES

(2019) Ming Yang Lee et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Imbalance in T-Helper 17 Cells and Targeted Therapy in an Infant with SAM-like Syndrome

(2019) Angela Hernández-Martín et al.   NEW ENGLAND JOURNAL OF MEDICINE

CHILD syndrome: A modified pathogenesis-targeted therapeutic approach

(2018) Christina Bergqvist et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines

(2018) Elizabeth A. Mauldin et al.   AMERICAN JOURNAL OF PATHOLOGY

Ixekizumab or secukinumab in psoriasis: what difference does it make?

(2018) C. Paul   BRITISH JOURNAL OF DERMATOLOGY

Management of congenital ichthyoses: European guidelines of care: Part Two

(2018) J. Mazereeuw-Hautier et al.   BRITISH JOURNAL OF DERMATOLOGY

Ichthyosis molecular fingerprinting shows profound T H 17 skewing and a unique barrier genomic signature

(2018) Kunal Malik et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

(2018) Tali Czarnowicki et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Decreased Skin Barrier Lipid Acylceramide and Differentiation-Dependent Gene Expression in Ichthyosis Gene Nipal4 -Knockout Mice

(2018) Yuichi Honda et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

The spectrum of manifestations in desmoplakin gene ( DSP ) spectrin repeat 6 domain mutations: Immunophenotyping and response to ustekinumab

(2018) Amy S. Paller et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Management of congenital ichthyoses: European guidelines of care: Part One

(2018) J. Mazereeuw-Hautier et al.   BRITISH JOURNAL OF DERMATOLOGY

The role of PNPLA1 in ω-O-acylceramide synthesis and skin barrier function

(2018) Tetsuya Hirabayashi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Patients with congenital ichthyosis and TGM1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response?

(2018) Hanqian Zhang et al.   EXPERIMENTAL DERMATOLOGY

Transglutaminase 1 Replacement Therapy Successfully Mitigates the ARCI Phenotype in Full-Thickness Skin Disease Equivalents

(2018) Roswitha Plank et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes

(2017) Leila Youssefian et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2017) Amy S. Paller et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides

(2017) Susanne Grond et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Control of gene editing by manipulation of DNA repair mechanisms

(2017) Eric Danner et al.   MAMMALIAN GENOME

Regeneration of the entire human epidermis using transgenic stem cells

(2017) Tobias Hirsch et al.   NATURE

KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype

(2017) Petr Kasparek et al.   PLoS Genetics

A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs

(2017) Margret L. Casal et al.   PLoS One

Inherited ichthyosis: Syndromic forms

(2016) Kozo Yoneda   JOURNAL OF DERMATOLOGY

Expanding the Mutation Spectrum of Ichthyosis with Confetti

(2016) Young H. Lim et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome

(2016) William B. Rizzo   Expert Opinion on Orphan Drugs

Small Molecules in the Treatment of Psoriasis

(2015) Tiago Torres et al.   DRUG DEVELOPMENT RESEARCH

Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin

(2015) Maeve A. McAleer et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti

(2015) Keith A. Choate et al.   JOURNAL OF CLINICAL INVESTIGATION

Ichthyosis with confetti: clinics, molecular genetics and management

(2015) Liliana Guerra et al.   Orphanet Journal of Rare Diseases

KLK5 Inactivation Reverses Cutaneous Hallmarks of Netherton Syndrome

(2015) Laetitia Furio et al.   PLoS Genetics

Clinical response to ustekinumab in familial pityriasis rubra pilaris caused by a novel mutation inCARD14

(2014) O. Eytan et al.   BRITISH JOURNAL OF DERMATOLOGY

SPINK5 knockdown in organotypic human skin culture as a model system for Netherton syndrome: effect of genetic inhibition of serine proteases kallikrein 5 and kallikrein 7

(2014) Shirley Wang et al.   EXPERIMENTAL DERMATOLOGY

Gene Therapy for Skin Diseases

(2014) E. Gorell et al.   Cold Spring Harbor Perspectives in Medicine

Topical Enzyme-Replacement Therapy Restores Transglutaminase 1 Activity and Corrects Architecture of Transglutaminase-1-Deficient Skin Grafts

(2013) Karin Aufenvenne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The importance of the lipoxygenase-hepoxilin pathway in the mammalian epidermal barrier

(2013) Agustí Muñoz-Garcia et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Successful therapeutic transplantation of revertant skin in epidermolysis bullosa

(2013) Antoni Gostyński et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

(2013) Liat Samuelov et al.   NATURE GENETICS

Effect of IL-17A blockade with secukinumab in autoimmune diseases

(2012) Dhavalkumar D Patel et al.   ANNALS OF THE RHEUMATIC DISEASES

Factors influencing quality of life in patients with inherited ichthyosis: a qualitative study in adults using focus groups

(2011) J. Mazereeuw-Hautier et al.   BRITISH JOURNAL OF DERMATOLOGY

Enzyme replacement therapy for lysosomal storage diseases

(2011) Robin H. Lachmann   CURRENT OPINION IN PEDIATRICS

Ustekinumab

(2011) Jamie D. Croxtall   DRUGS

Pathogenesis-Based Therapy Reverses Cutaneous Abnormalities in an Inherited Disorder of Distal Cholesterol Metabolism

(2011) Amy S. Paller et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Infliximab Infusions for Netherton Syndrome: Sustained Clinical Improvement Correlates with a Reduction of Thymic Stromal Lymphopoietin Levels in the Skin

(2011) Lionel Fontao et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Treatment of pityriasis rubra pilaris with ustekinumab

(2010) J. Wohlrab et al.   BRITISH JOURNAL OF DERMATOLOGY

Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis

(2010) M.J. Arin et al.   BRITISH JOURNAL OF DERMATOLOGY

X-linked ichthyosis: An oculocutaneous genodermatosis

(2010) Neil F. Fernandes et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

(2010) Vinzenz Oji et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Keratitis, Ichthyosis, and Deafness (KID Syndrome): Review of the Literature and Proposal of a New Terminology

(2010) Hector Caceres-Rios et al.   PEDIATRIC DERMATOLOGY

Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10

(2010) K. A. Choate et al.   SCIENCE

Ichthyosis

(2009) Vinzenz Oji et al.   AMERICAN JOURNAL OF CLINICAL DERMATOLOGY

The molecular basis of human keratin disorders

(2009) Meral Julia Arin   HUMAN GENETICS

Autosomal Recessive Congenital Ichthyosis

(2009) Judith Fischer   JOURNAL OF INVESTIGATIVE DERMATOLOGY