Publications
ERN-Skin members are engaged to stimulate a collaborative clinical research in the field of rare skin diseases, in order to improve patient management. All following publications involve at least two reference centres from two different Member States within the ERN-Skin.
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AIBD
Autoimmune Bullous Diseases
European Guidelines (S3) on diagnosis and management of mucous membrane pemphigoid, initiated by the European Academy of Dermatology and Venereology – Part II.- European guidelines (S3) on diagnosis and management of mucous membrane pemphigoid, initiated by the European Academy of Dermatology and Venereology – Part I.
- S2k guidelines (consensus statement) for diagnosis and therapy of dermatitis herpetiformis initiated by the European Academy of Dermatology and Venereology (EADV)
Multicenter prospective study on multivariant diagnostics of autoimmune bullous dermatoses using the BIOCHIP technology- IgE autoantibodies in serum and skin of non-bullous and bullous pemphigoid patients
- International validation of the Bullous Pemphigoid Disease Area Index severity score and calculation of cut-off values for defining mild, moderate and severe types of bullous pemphigoid
- Paraneoplastic autoimmune multiorgan syndrome (PAMS)
- Updated S2K guidelines on the management of pemphigus vulgaris and foliaceus initiated by the european academy of dermatology and venereology (EADV)
- Autoantibody Detection for Diagnosis in Direct Immunofluorescence-Negative Mucous Membrane Pemphigoid: Ocular and Other Sites Compared
- Expert recommendations for the management of autoimmune bullous diseases during the COVID-19 pandemic
- Pemphigus
- A new clinical variant of acquired reactive perforating dermatosis-like bullous pemphigoid
ALLOCATE
Acquired immunologicaL LOw prevalence and Complex AdulT diseases of thE SKIN
- Overview and comparison of the clinical scores in hidradenitis suppurativa: A real-life clinical data
- Development and validation of IHS4-55, an IHS4 dichotomous outcome to assess treatment effect for hidradenitis suppurativa
- External Validation of the IHS4-55 in a European Antibiotic-Treated Hidradenitis Suppurativa Cohort
- What causes hidradenitis suppurativa ?-15 years after
- Metascoring Hidradenitis suppurativa
- Contribution of plasma cells and B cells to hidradenitis suppurativa pathogenesis
DNA
Cutaneous Diseases related to DNA repair Disorders and photosensitivity
EB
Inherited Epidermolysis Bullosa and skin fragility syndromes – Darier disease – Hailey-Hailey disease
- COL7A1 Editing via RNA Trans-Splicing in RDEB-Derived Skin Equivalents
- QR-313, an Antisense Oligonucleotide, Shows Therapeutic Efficacy for Treatment of Dominant and Recessive Dystrophic Epidermolysis Bullosa: A Preclinical Study
- Initial validation of the epidermolysis bullosa-specific module of the Infants and Toddlers Dermatology Quality of Life questionnaire
- Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility
- Multidisciplinary care of epidermolysis bullosa during the COVID-19 pandemic-Consensus: Recommendations by an international panel of experts
- STAT3 targeting in dystrophic epidermolysis bullosa
- ERN-Skin clinical research update for Epidermolysis Bullosa (October 2020)
Currently recruiting clinical therapy trials for Epidermolysis Bullosa (October 2020)- EGFR inhibition for metastasized cutaneous squamous cell carcinoma in dystrophic epidermolysis bullosa
- Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients
- Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 “knock-out”
- Mechanism of Oleogel-S10: A triterpene preparation for the treatment of epidermolysis bullosa
- Mechanism of Oleogel-S10: A triterpene preparation for the treatment of epidermolysis bullosa part 2
- Oleogel-S10 Phase 3 study “EASE” for epidermolysis bullosa: study design and rationale
- Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa-Associated Squamous Cell Carcinoma
- Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases
- Decorin counteracts disease progression in mice with recessive dystrophic epidermolysis bullosa
- Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype-phenotype correlation and in silico modeling analysis
- Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy
- Epidermolysis bullosa House Austria and Epidermolysis bullosa clinical network : Example of a centre of expertise implemented in a European reference network to face the burden of a rare disease
ED
Ectodermal Dysplasias including Incontinentia Pigmenti and p63-associated disorders
IPPK
Ichthyosis and Palmoplantar Keratoderma
- Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis
- Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma
- Hereditary palmoplantar keratoderma – phenotypes and mutations in 64 patients
- Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients
- Treatment of hereditary palmoplantar keratoderma: a review by analysis of the literature
- Correction to: Italian translation, cultural adaptation, and pilot testing of a questionnaire to assess family burden in inherited ichthyoses
- Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma
- Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4
- Burden of itch in ichthyosis: a multicentre study in 94 patients
- Italian translation, cultural adaptation, and pilot testing of a questionnaire to assess family burden in inherited ichthyoses
- Alitretinoin in punctate palmoplantar keratoderma
- Alitretinoin reduces erythema in inherited ichthyosis
- Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas – Diagnostic algorithm and principles of therapy
- Hereditary palmoplantar keratodermas. Part I. Non-syndromic palmoplantar keratodermas: classification, clinical and genetic features
MCTD
Mendelian Connective Tissue Disorders
Mosaic
Cutaneous Mosaic Disorders : Naevi & Naevoid skin disorders – Complex vascular malformations and cutaneous and subcutaneous vascular tumors
- Superimposed Mosaicism in the Form of Extremely Extended Segmental Plexiform Neurofibroma Caused by a Novel Pathogenic Variant in the NF1 Gene
- Development of an international core domain set for medium, large and giant congenital melanocytic naevi as a first step towards a core outcome set for clinical practice and research
- RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation
ToxiTEN
Severe Cutaneous Drug Reactions – Toxic Bullous Diseases
- Management of Adult Patients With Drug Reaction With Eosinophilia and Systemic Symptoms: A Delphi-Based International Consensus
- Management and treatment outcome of DRESS patients in Europe: An international multicentre retrospective study of 141 cases
- Post-acute phase and sequelae management of epidermal necrolysis: an international, multidisciplinary DELPHI-based consensus
- Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Standard Reporting and Evaluation Guidelines: Results of a National Institutes of Health Working Group