ERN Skin

Many skin conditions have a severe impact on patients and can be associated with a risk of cancer. Diagnosis of rare and complex skin diseases consists of a full assessment of the skin and mucous membrane, as well as other systems, and skin biopsies. Only experienced dermatologists can differenti- ate between these complex conditions. The absence of an expert diagnosis is a barrier to treatment. This can be a profound physical and psychological burden for patients.

This network brings together leading experts in the field of rare child and adult skin diseases to exchange knowledge, update and develop best practice guide- lines, and improve professional training and patient ucation.

It aims to improve healthcare organisation with the pooling of resources, including a plat- form with expert pathologts for a centralised study of slides and collaborative discussions on difficult cases. For every disease covered, core multidisciplinary teams will include a dermatologist, a nurse, a psychologist, a geneticist, a dietician and a pathologist, along with other specialists as quired.

ERN Skin will also develop rare skin disease registries allowing participation in research programmes and clinical trials with well-char- acterised patients, as well as the stimulation of therapeutic research with sufficiently larger cohorts of patients. In addition, a comprehen- sive socio-economic study on the individual burden of diseases will be conducted.

Registry

Contact information

Publications

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Below an overview is given of scientific publications related to ERN Skin. Publications were obtained from the PubMed database. All publications where one of the authors has an affiliation link where "ERN Skin" is mentioned, are added to the publication overview automatically. Updates are performed once a week.

Filter list publications

TitleAuthorsDateKeywordsIssue name
Congenital Dermatofibrosarcoma Protuberans-An Update on the Ongoing Diagnostic Challenges.Cassalia F, Danese A, Cocchi E, Vaienti S, Bolzon A, Franceschin L, Mazzetto R, Caroppo F, Melandri D, Belloni Fortina A2025-01-06congenital DFSP, dermatofibrosarcoma protuberans, dermatology, misdiagnosis, pediatric sarcoma, pediatric skin cancer, rare skin cancer, soft tissue tumorCancers
Oral health care pathways for patients with epidermolysis bullosa: A position statement from the European reference network for rare skin diseases.Krämer S, Hillebrecht AL, Bekes K, Bücher K, Clark V, Haririan H, Jakowski J, Joseph C, Meißner N, Monteiro J, Porter S, Schilke R, Veliz S, Verhaeghe V, Vinereanu A, Bolling MC, Diem A, Mellerio JE, Bodemer C, Has C2024-12-13Journal of the European Academy of Dermatology and Venereology : JEADV
Mosaic KRAS Mutation in Schimmelpenning-Feuerstein-Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features.Hanna H, Kaisa K, Kristiina A, Sirpa K, Leila J, Sinikka S, Päivi S, Katariina HJ2024-12-07dermatology, genotype, mosaicism, mutation, phenotypePediatric dermatology
Suspect dyskeratotic neoformations in a 7-year-old child with keratitis-ichthyosis-deafness syndrome: diagnostic, surgical and wound care management.Montanari A, Caroppo F, Amabile A, Belloni AF, Bassetto F2024-11-21kid syndrome, medical honey, pediatric wound care, rare skin disorders, skin neoformationsDermatology reports
Biologics in congenital ichthyosis: are they effective?Mazereeuw-Hautier J, Granier Tournier C, Hernandez-Martin A, Milesi S, Texier H, Severino-Freire M, Bellon N, Bodemer C, Gruber R, Mahé E, Morice Picard F, Hannula-Jouppi K, Murase JE, Barbarot S, Cohen-Barak E, Torres-Pradilla M, Bruckner A, Levy M, Koh MJA, Masson Regnault M, Rossel V, Chiaverini C, Arkin LM, Ott H, Has C, Süβmuth K, Gostynski A, Shourick J, Paller AS2024-10-29The British journal of dermatology
Psoriasis in women with psoriatic arthritis: hormonal effects, fertility, and considerations for management at different stages of life.Cassalia F, Belloni Fortina A2024-09-11Reumatismo
Bridging the Diagnostic Gap for Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: Evidence of a Common Extracellular Matrix Fragmentation Pattern in Patient Plasma as a Potential Biomarker.Ritelli M, Chiarelli N, Cinquina V, Bertini V, Piantoni S, Caproli A, Della Pinna SEL, Franceschini F, Zarattini G, Gandy W, Venturini M, Zoppi N, Colombi M2024-09-03fibronectin fragments, hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorders, osteoarthritis, psoriatic arthritis, rheumatoid arthritis, tenascin fragments, type I collagen fragmentsAmerican journal of medical genetics. Part A
Keratin variants in monilethrix.Ortner-Tobider D, Trafoier T, Moosbrugger-Martinz V, Tollinger S, Gruber R, Schmuth M2024-08-28The British journal of dermatology
Novel variant c.7795-1G>A of COL7A1 gene in a 12-month-old female child with recessive dystrophic epidermolysis bullosa treated with dupilumab.Caroppo F, Cassalia F, Milan E, Belloni Fortina A2024-08-01DEB, EB, congenital diseases, dystrophic epidermolysis bullosa, epidermolysis bullosa, genetic diseases, mutation, rare skin diseasesJAAD case reports
Acute generalized exanthematous pustulosis: European expert consensus for diagnosis and management.Tetart F, Walsh S, Milpied B, Gaspar K, Vorobyev A, Tiplica GS, Didona B, Welfringer-Morin A, Kucinskiene V, Bensaid B, Marvanova E, Salavastru C, Brezinova E, Chua SL, Lovgren ML, Hammers CM, Barbaud A, Mortz CG, Horvath B, Meyersburg D, Lebrun-Vignes B, Bodemer C, Brüggen MC, French LE, Ingen-Housz-Oro S2024-07-18Journal of the European Academy of Dermatology and Venereology : JEADV
An exploratory randomized clinical trial on negative pressure wound therapy for lower limb full-thickness skin grafts of dermatosurgical patients.Lindholm VM, Salminen AW, Koskenmies SJ, Salmivuori MK, Hannula-Jouppi KSE, Isoherranen KM2024-06-01compression therapy, full‐thickness skin graft, negative pressure wound therapy, skin cancerInternational wound journal
Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark.Gram SB, Jørgensen ASF, Bygum A, Brusgaard K, Ousager LB2024-05-01AAGAB, Denmark, founder, haplotypes, palmoplantar keratodermaClinical genetics
"Quality of Life in Epidermolysis Bullosa" and "Epidermolysis Bullosa Burden of Disease": Italian translation, cultural adaptation, and pilot testing of two disease-specific questionnaires.Hachem ME, Diociaiuti A, Zambruno G, Samela T, Ferretti F, Carnevale C, Linertová R, Bodemer C, Murrell DF, Abeni D2024-04-19Dermatology, Dystrophic epidermolysis bullosa, Epidermolysis bullosa simplex, Family burden, Inherited epidermolysis bullosa, Junctional epidermolysis bullosa, Kindler epidermolysis bullosa, Quality of lifeItalian journal of pediatrics
Ichthyosis: multinational European study on patient characteristics, involved body sites and impact on quality of life.El Hachem M, De Marco R, Soria de Francisco JM, Audouze A, Aldwin-Easton M, Skayem C, Taieb C, Saint Aroman M, Ghienne H, Baissac C, Mazereeuw J, Bodemer C2024-04-17The British journal of dermatology
Activated and Naïve Allogenic Human Placental Mesenchymal Stromal Cells Exert an Immunomodulatory Effect on Hidradenitis Suppurativa Patient Peripheral Blood Mononuclear Cells.Jariene V, Valiukevicius P, Maciulaitis J, Kuzaityte U, Insodaite R, Ciapiene I, Maciulaitis R, Valiukeviciene S2024-04-12PBMCs, acne inversa, hidradenitis suppurativa, mesenchymal stem cells (MSCs), peripheral blood mononuclear cellsJournal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research
Medical algorithm: Diagnosis and treatment of drug reaction with eosinophilia and systemic symptoms in adult patients.Brüggen MC, Traidl S, Mitamura Y, Walsh S, French LE, Gulati N, Phillips E, Maverakis E, Ingen-Housz-Oro S2024-04-08DRESS (Drug reaction with eosinophilia and systemic symptoms), drug hypersensitivity reaction, managementAllergy
Plantar keratoderma and curly hair as a diagnostic clue of cardiomyopathy risk.Gram SB, Brusgaard K, Bygum A, Christensen AH, Ousager LB2024-03-25DSP, cardiomyopathy, palmoplantar keratodermaThe Journal of dermatology
Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations.Hotz A, Fölster-Holst R, Oji V, Bourrat E, Frank J, Marrakchi S, Ennouri M, Wankner L, Komlosi K, Alter S, Fischer J2024-02-24ABCA12, autosomal recessive congenital ichthyosis (ARCI), erythrokeratodermia variabilisGenes
Multiple bronchial carcinoids associated with Cowden syndrome.Tömböl Z, Tőke J, Tóth G, Varga Z, Balázs E, Tóth E, Gergely L, Danihel Ľ, Medvecz M, Borka K, Tóth M2024-02-14Cowden syndrome, Multiple pulmonary carcinoids, PTEN mutationEndocrine
A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma.Brandt E, Harjama L, Elomaa O, Saarela J, Donner K, Lappalainen K, Kivirikko S, Ranki A, Kere J, Kettunen K, Hannula-Jouppi K2024-02-01Journal of the European Academy of Dermatology and Venereology : JEADV
Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease.Nagy N, Pal M, Kun J, Galik B, Urban P, Medvecz M, Fabos B, Neller A, Abdolreza A, Danis J, Szabo V, Yang Z, Fenske S, Biel M, Gyenesei A, Adam E, Szell M2024-01-20TPCN2 gene, albinism, digenic inheritance, missing heritabilityInternational journal of molecular sciences
Mental Health of School-Aged Children Treated with Propranolol or Atenolol for Infantile Hemangioma and Their Parents.Hermans MM, Schappin R, de Laat PCJ, Mendels EJ, Breur JMPJ, Langeveld HR, Raphael MF, de Graaf M, Breugem CC, de Wildt SN, Okkerse JME, Pasmans SGMA, Rietman AB2024-01-01Adrenergic beta-antagonists, Long-term adverse effects, Parenting, Psychosocial functioning, Vascular tissue neoplasmsDermatology (Basel, Switzerland)
Management of Adult Patients With Drug Reaction With Eosinophilia and Systemic Symptoms: A Delphi-Based International Consensus.Brüggen MC, Walsh S, Ameri MM, Anasiewicz N, Maverakis E, French LE, Ingen-Housz-Oro S, Abe R, Ardern-Jones M, Assier H, Barbaud A, Bensaid B, Bernal W, Bernier C, Brassard A, Brezinová E, Cabañas R, Cardones A, Chu CY, Chua SL, Descamps V, Didona B, Divito SJ, Dodiuk-Gad R, Elman S, Gaspar K, Mortz CG, Hama N, Lee HY, Horváth B, Jörg L, Kaffenberger BH, Kucinskiene V, Lebrun-Vignes B, Lehloenya RJ, Meyersburg D, Micheletti R, Milpied B, Miyagawa F, Mostaghimi A, Nägeli M, Naldi L, Oppel E, Phillips EJ, Pirani T, Ranki A, Mälkönen T, Rosenbach M, Salavastru C, Staumont-Salle D, Sandberg H, Setterfield J, Shinkai K, Shiohara T, Soria A, Tartar D, Tiplica GS, Traidl S, Vorobyev A, von Wachter C, Worswick S, Cho YT2024-01-01JAMA dermatology
Absence of Epidermal Antibodies in Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Patients but Beware of Single Positive Results.Diercks GFH, Meijer JM, Bolling MC, Scholtens-Jaegers SMHJ, Bremer J, Horvath B2024-01-01Dermatology research and practice
Disease severity, treatment patterns, and quality of life in patients with moderate-to-severe psoriasis routinely managed with systemic treatment: results of the CRYSTAL observational study in Central and Eastern European countries.Raam L, Hartmane I, Valiukevičienė S, Karamova AE, Telegdy E, Botev I, Marina D, Rubant S, Albuquerque T, Constantin MM2024-01-01patient-reported outcomes, psoriasis, real-world, severity of illness index, systemic therapyFrontiers in immunology
Epidermal necrolysis: a chronic disease associated with loss-of-life expectancy and lifetime healthcare expenditure.Ingen-Housz-Oro S2023-10-25The British journal of dermatology
A retrospective study on the liver toxicity of oral retinoids in Chanarin-Dorfman syndrome.Valette C, Jonca N, Fischer J, Pernin-Grandjean J, Granier Tournier C, Diociaiuti A, Neri I, Dreyfus I, Furman M, Giehl K, Wollenberg A, Mallet S, Martin L, Martin-Santiago A, Onnis G, Broue P, Leclerc-Mercier S, Schmuth M, Sprecher E, Gruber R, Suessmuth K, Bourrat E, Komlosi K, Hill S, O'Toole EA, Schischmanoff O, Caux F, Mazereeuw-Hautier J2023-10-01Journal of the European Academy of Dermatology and Venereology : JEADV
Publisher Correction: Whole genome sequencing resolves 10 years diagnostic odyssey in familiar myxoma.Pálla S, Tőke J, Bozsik A, Butz H, Papp J, Likó I, Kuroli E, Bánvölgyi A, Hamar M, Bertherat J, Medvecz M, Patócs A2023-09-28Scientific reports
Whole genome sequencing resolves 10 years diagnostic odyssey in familiar myxoma.Pálla S, Tőke J, Bozsik A, Butz H, Papp J, Likó I, Kuroli E, Bánvölgyi A, Hamar M, Bertherat J, Medvecz M, Patócs A2023-09-05Scientific reports
Epidemiology of hidradenitis suppurativa.Bukvić Mokos Z, Markota Čagalj A, Marinović B2023-09-01Clinics in dermatology
DRESS syndrome in a patient undergoing stem cell transplantation: Can sirolimus be involved?Cassalia F, Spiller A, Salmaso R, Caroppo F, Belloni Fortina A2023-09-01DRESS, drug adverse reaction, oncology, transplantationClinical case reports
The genetic aspects of hidradenitis suppurativa.Balić A, Marinović B, Bukvić Mokos Z2023-09-01Clinics in dermatology
Correction to: Long-term neurocognitive functioning of children treated with propranolol or atenolol for infantile hemangioma.Hermans MM, Rietman AB, Schappin R, de Laat PCJ, Mendels EJ, Breur JMPJ, Langeveld HR, de Wildt SN, Breugem CC, de Graaf M, Raphael MF, Pasmans SGMA2023-09-01European journal of pediatrics
Prognostic Factors for Long-term Aesthetic Outcome of Infantile Haemangioma Treated with Beta-blockers.Hermans MM, Pasmans SGMA, De Graaf M, Ragamin A, Mendels EJ, Breur JMPJ, Langeveld HR, Raphael MF, De Laat PCJ, De Wildt SN, Rietman AB, Breugem CC, Schappin R2023-08-30Acta dermato-venereologica
The Ectodermal Dysplasias-Burden of Disease Score: Development and Validation of an Ectodermal Dysplasia Family/Parental Burden Score.Dufresne H, Maincent O, Taieb C, Bodemer C, Hadj-Rabia S2023-08-30Acta dermato-venereologica
French data on the epidemiology and expert healthcare network for epidermolysis bullosa.Bodemer C, Soussand L, Sandrin A, Khatim A, Sauvestre A, Elarouci N, Jannot AS2023-05-01Journal of the European Academy of Dermatology and Venereology : JEADV
Intravenous immunoglobulins, cyclosporine, and best supportive care in epidermal necrolysis: Diverse effects on systemic inflammation.Schmidt V, Lalevée S, Traidl S, Ameri M, Ziadlou R, Ingen-Housz-Oro S, Barau C, de Prost N, Nägeli M, Mitamura Y, Meier-Schiesser B, Navarini AA, French LE, Contassot E, Brüggen MC2023-05-01Stevens-Johnson syndrome (SJS), adjuvant treatments, epidermal necrolysis, immune signatures, toxic epidermal necrolysis (TEN)Allergy
Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report.Amato ME, Ricart S, Vicente MA, Martorell L, Armstrong J, Fernández Isern G, Mascaro JM, Balsells S, Alonso I, Serrano M, Ortigoza-Escobar JD2023-04-01Angelman syndrome, COL17A1, PDZD7, UBE3A, autosomal recessive deafness type 57, case report, epidermolysis bullosaClinical case reports
Management and treatment outcome of DRESS patients in Europe: An international multicentre retrospective study of 141 cases.Kridin K, Brüggen MC, Walsh S, Bensaid B, Ranki A, Oppel E, Meyersburg D, Chua SL, Seeli C, Sandberg H, French LE, Vorobyev A, Ingen-Housz-Oro S2023-04-01Journal of the European Academy of Dermatology and Venereology : JEADV
Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.Hotz A, Kopp J, Bourrat E, Oji V, Süßmuth K, Komlosi K, Bouadjar B, Tantcheva-Poór I, Hellström Pigg M, Betz RC, Giehl K, Schedel F, Weibel L, Schulz S, Stölzl DV, Tadini G, Demiral E, Berggard K, Zimmer AD, Alter S, Fischer J2023-03-15ABCA12, ARCI, congenital ichthyosiform erythroderma, harlequin ichthyosis, lamellar ichthyosisGenes
Long-term neurocognitive functioning of children treated with propranolol or atenolol for infantile hemangioma.Hermans MM, Rietman AB, Schappin R, de Laat PCJ, Mendels EJ, Breur JMPJ, Langeveld HR, de Wildt SN, Breugem CC, de Graaf M, Raphael MF, Pasmans SGMA2023-02-01Adrenergic beta-antagonists, Capillary hemangioma, Child, Cognition, Executive function, Infant, Long-term adverse effects, Neurocognitive disorders, Neuropsychological tests, Vascular malformations, Vascular tissue neoplasms, Wechsler scalesEuropean journal of pediatrics
Five cases of new-onset pemphigus following vaccinations against coronavirus disease 2019.Corrá A, Barei F, Genovese G, Zussino M, Spigariolo CB, Mariotti EB, Quintarelli L, Verdelli A, Caproni M, Marzano AV2023-02-01COVID-19, mRNA BNT162b2, mRNA-1273, pemphigus foliaceus, pemphigus vulgarisThe Journal of dermatology
Case Report: Resolution of Lichen Planus Pemphigoides as an unexpected outcome of SARS-CoV-2 infection.Ruffo di Calabria V, Verdelli A, Quintarelli L, Corrà A, Mariotti EB, Aimo C, Del Bianco E, Bianchi B, Maio V, Massi D, Caproni M2023-01-01COVID-19, Lichen planus pemphigoides, SARS-CoV-2, autoimmunity, molecular mechanisms, viral infectionsFrontiers in immunology
DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma.Heliö K, Brandt E, Vaara S, Weckström S, Harjama L, Kandolin R, Järviö J, Hannula-Jouppi K, Heliö T, Holmström M, Koskenvuo JW2023-01-01CMR, DSP, arrhythmogenic cardiomyopathy, cardiomyopathy, myocarditis, palmoplantar keratodermaFrontiers in cardiovascular medicine
Access to medicines for rare diseases: A European regulatory roadmap for academia.Rosenberg N, van den Berg S, Stolwijk NN, Jacobs BAW, Post HC, Pasmooij AMG, de Visser SJ, Hollak CEM2023-01-01alternative drug-to-market routes, marketing authorization, orphan drugs, patient access, rare diseases, regulatory frameworkFrontiers in pharmacology
Paraneoplastic pemphigus: A detailed case series from the Netherlands revealing atypical cases.Zaheri F, Pas HH, Bremer J, Meijer JM, Bolling MC, Horvath B, Diercks GFH2023-01-01Journal of the European Academy of Dermatology and Venereology : JEADV
Multiple entzündliche Knötchen, Fisteln und Narben bei einem männlichen Patienten.Velicˇkaite V, Jariene V, Valiukevicˇiene S2022-10-01Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
A man with multiple inflammatory nodules, fistulas and scars.Veličkaitė V, Jarienė V, Valiukevičienė S2022-10-01Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
Patient-reported adverse effects when switching from oral to subcutaneous administration of methotrexate: A prospective, multicenter, paired cohort study.Fraes Diernæs JE, Kromann CB, Boel M, Bygum A, Jemec GBE2022-10-01Journal of the American Academy of Dermatology
Natural Occurrence of Autoantibodies against Basement Membrane Proteins in Epidermolysis Bullosa.Gostyński A, Diercks GFH, Escamez MJ, Chandran NS, de Lucas R, Garcia-Martin A, Del Rio M, Bremer J, Bolling MC, Meana A, Llames SG, Schmidt E, Ludwig R, Jonkman MF, Pas HH, Pasmooij AMG2022-07-01The Journal of investigative dermatology
PIK3CA-related overgrowth with an uncommon phenotype: case report.Rotunno R, Diociaiuti A, Pisaneschi E, Carnevale C, Dentici M, El Hachem M2022-05-12Megalencephaly-capillary malformation, PIK3CA, PhenotypeItalian journal of pediatrics
Effects of systemic therapies on pruritus in adults with atopic dermatitis: a systematic review and meta-analysis.Tan XL, Thomas BR, Tan YJ, O'Toole EA2022-04-01Clinical and experimental dermatology
Crusted scabies in children in France: a series of 20 cases.Grodner C, Miquel J, Hadj-Rabia S, Mallet S, Boralevi F, Mazereeuw-Hautier J, Benzebouchi N, Dhers M, Goujon E, Bensaïd P, Mahé E2022-03-01Adolescents, Children, Crusted scabies, Infants, Risk factors, Scabies norwegicaEuropean journal of pediatrics
Uniting biobank resources reveals novel genetic pathways modulating susceptibility for atopic dermatitis.Sliz E, Huilaja L, Pasanen A, Laisk T, Reimann E, Mägi R, Hannula-Jouppi K, Peltonen S, Salmi T, Koulu L, Tasanen K, Kettunen J2022-03-01Atopic dermatitis, DSC1, FinnGen, SERPINB7, genome-wide associationThe Journal of allergy and clinical immunology
Cutaneous vasculitis: Lessons from COVID-19 and COVID-19 vaccination.Corrà A, Verdelli A, Mariotti EB, Ruffo di Calabria V, Quintarelli L, Aimo C, Sunderkötter CH, Caproni M2022-01-01COVID-19, COVID-19 vaccines, IgA vasculitis, cutaneous vasculitis, leukocytoclastic vasculitis, urticarial vasculitis, vaccine-induced vasculitis, vasculitisFrontiers in medicine
The impact on the scientific community of the 2018 addendum to the CHCC.Caproni M, Calabria VRD, Mariotti EB, Verdelli A, Aimo C, Corrà A, Quintarelli L, Volpi W, Alpsoy E, Sunderkötter C2022-01-01Chapel Hill Consensus Conference, addendum to Chapel Hill Consensus, nomenclature, provisional definitions of vasculitides, vasculitidesFrontiers in medicine
Rituximab - Progress but Still Not a Final Resolution for Pemphigus Patients: Clinical Report From a Single Center Study.Miše J, Jukić IL, Marinović B2022-01-01desmoglein, efficacy, pemphigus, relapse, remission, rituximabFrontiers in immunology
Pemphigus-The Crux of Clinics, Research, and Treatment during the COVID-19 Pandemic.Marinović B, Miše J, Jukić IL, Bukvić Mokos Z2021-10-28COVID-19, SARS-CoV-2, desmoglein, immunodermatology, pemphigus, rituximabBiomedicines
Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients.Harjama L, Karvonen V, Kettunen K, Elomaa O, Einarsdottir E, Heikkilä H, Kivirikko S, Ellonen P, Saarela J, Ranki A, Kere J, Hannula-Jouppi K2021-09-01Journal of the European Academy of Dermatology and Venereology : JEADV
Supportive care in the acute phase of Stevens-Johnson syndrome and toxic epidermal necrolysis: an international, multidisciplinary Delphi-based consensus.Brüggen MC, Le ST, Walsh S, Toussi A, de Prost N, Ranki A, Didona B, Colin A, Horváth B, Brezinova E, Milpied B, Moss C, Bodemer C, Meyersburg D, Salavastru C, Tiplica GS, Howard E, Bequignon E, Bouwes Bavinck JN, Newman J, Gueudry J, Nägeli M, Zaghbib K, Pallesen K, Bygum A, Joly P, Wolkenstein P, Chua SL, Le Floch R, Shear NH, Chu CY, Hama N, Abe R, Chung WH, Shiohara T, Ardern-Jones M, Romanelli P, Phillips EJ, Stern RS, Cotliar J, Micheletti RG, Brassard A, Schulz JT, Dodiuk-Gad RP, Dominguez AR, Paller AS, Seminario-Vidal L, Mostaghimi A, Noe MH, Worswick S, Tartar D, Sheridan R, Kaffenberger BH, Shinkai K, Maverakis E, French LE, Ingen-Housz-Oro S2021-09-01The British journal of dermatology
Cutaneous venous malformations as a clue for possible gastrointestinal tract involvement: Diagnosis and treatment of six cases.Diociaiuti A, Rotunno R, Caldaro T, Rossi S, Carnevale C, Torroni F, Paolantonio G, Capriati T, El Hachem M2021-05-01ISSVA, gastrointestinal tract, skin, vascular anomalies, venous malformationsDermatologic therapy
Treatment of hereditary palmoplantar keratoderma: a review by analysis of the literature.Bodemer C, Steijlen P, Mazereeuw-Hautier J, O'Toole EA2021-03-01The British journal of dermatology
Epidemiology of systemic sclerosis: a multi-database population-based study in Tuscany (Italy).Coi A, Barsotti S, Santoro M, Almerigogna F, Bargagli E, Caproni M, Emmi G, Frediani B, Guiducci S, Matucci Cerinic M, Mosca M, Parronchi P, Prediletto R, Selvi E, Simonini G, Tavoni AG, Bianchi F, Pierini A2021-02-17Comorbidity, Disease registry, Mortality risk, Pharmacoepidemiology, Rare disease, Survival, Systemic sclerosisOrphanet journal of rare diseases
Medical infrared thermography as hidradenitis suppurativa diagnostic tool: literature review.Mazeika E, Jariene V, Valiukeviciene S2021-02-01hidradenitis suppurativa, medical infrared thermography, surgical treatmentPostepy dermatologii i alergologii
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.Hotz A, Kopp J, Bourrat E, Oji V, Komlosi K, Giehl K, Bouadjar B, Bygum A, Tantcheva-Poor I, Hellström Pigg M, Has C, Yang Z, Irvine AD, Betz RC, Zambruno G, Tadini G, Süßmuth K, Gruber R, Schmuth M, Mazereeuw-Hautier J, Jonca N, Guez S, Brena M, Hernandez-Martin A, van den Akker P, Bolling MC, Hannula-Jouppi K, Zimmer AD, Alter S, Vahlquist A, Fischer J2021-01-09ALOX12B, ALOXE3, ARCI, ichthyosisGenes
Challenges in Treating Genodermatoses: New Therapies at the Horizon.Morren MA, Legius E, Giuliano F, Hadj-Rabia S, Hohl D, Bodemer C2021-01-01cell therapy, genetic engeneering, genodermatoses, personalised medicine, reoriented drugs, unmet medical needsFrontiers in pharmacology
Hologene 5: A Phase II/III Clinical Trial of Combined Cell and Gene Therapy of Junctional Epidermolysis Bullosa.De Rosa L, Enzo E, Zardi G, Bodemer C, Magnoni C, Schneider H, De Luca M2021-01-01cell and gene therapy, clinical trial, epidermal stem cell, epidermolysis bullosa, genodermatoses, skinFrontiers in genetics
[Intense pulsed light treatment for hidradenitis suppurativa: a within-person randomized controlled trial].Andersen PL, Riis PT, Thorlacius L, Sigsgaard V, Nielsen CW, Chafranska L, Westergaard C, Jemec GB, Saunte DM2020-12-01IPL, acne inversa, hidradenitis suppurativa, intense pulse light, treatmentEuropean journal of dermatology : EJD
Contribution of Genetics to the Susceptibility to Hidradenitis Suppurativa in a Large, Cross-sectional Dutch Twin Cohort.van Straalen KR, Prens EP, Willemsen G, Boomsma DI, van der Zee HH2020-12-01JAMA dermatology
The Proteolytic Network in Palmoplantar Keratoderma: SERPINA12 Joins the Family.Steele L, Tawfik SS, O'Toole EA2020-11-01The Journal of investigative dermatology
Bleeding from the oral cavity: a new case of hematohidrosis.Corrà A, Quintarelli L, Caproni M2020-11-01International journal of dermatology
3D model of harlequin ichthyosis reveals inflammatory therapeutic targets.Enjalbert F, Dewan P, Caley MP, Jones EM, Morse MA, Kelsell DP, Enright AJ, O'Toole EA2020-09-01Dermatology, Genetic diseases, Genetics, Nitric oxide, SkinThe Journal of clinical investigation
Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation.Hannula-Jouppi K, Harjama L, Einarsdottir E, Elomaa O, Kettunen K, Saarela J, Soronen M, Bouchard L, Lappalainen K, Heikkilä H, Kivirikko S, Seppänen MRJ, Kere J, Ranki A2020-08-01Journal of the American Academy of Dermatology
Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti.Bodemer C, Diociaiuti A, Hadj-Rabia S, Robert MP, Desguerre I, Manière MC, de la Dure-Molla M, De Liso P, Federici M, Galeotti A, Fusco F, Fraitag S, Demily C, Taieb C, Valeria Ursini M, El Hachem M, Steffann J2020-07-01Journal of the European Academy of Dermatology and Venereology : JEADV
Inhibition of IFNα secretion in cells from patients with juvenile dermatomyositis under TBK1 inhibitor treatment revealed by single-molecular assay technology.Gitiaux C, Bondet V, Bekaddour N, Nusbaum P, Hubas A, Melki I, Bodemer C, Quartier P, Desguerre I, Crow YJ, Herbeuval JP, Duffy D, Bader Meunier B, Rodero MP2020-05-01Rheumatology (Oxford, England)
Inhibition of IFNα secretion in cells from patients with juvenile dermatomyositis under TBK1 inhibitor treatment revealed by single-molecular assay technology.Gitiaux C, Bondet V, Bekaddour N, Nusbaum P, Hubas A, Melki I, Bodemer C, Quartier P, Desguerre I, Crow YJ, Herbeuval JP, Duffy D, Bader Meunier B, Rodero MP2020-05-01Rheumatology (Oxford, England)
[Not Available].Süßmuth K, Traupe H, Metze D, Oji V2020-03-01Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
Pachyonychia congenita, a paradigm for rare skin disorders.Steele L, O'Toole EA2020-03-01The British journal of dermatology
Clinical variability and probable founder effect in oculocutaneous albinism type 7.Bataille P, Michaud V, Robert MP, Bekel L, Leclerc-Mercier S, Harroche A, Célérier C, Lasseaux E, Borgel D, Bremond-Gignac D, Bodemer C, Arveiler B, Hadj-Rabia S2020-03-01Clinical genetics
Clinical Characteristics of Hidradenitis Suppurativa Patients from a Reference Centre in Kaunas, Lithuania.Kucinskiene V, Jariene V, Valiukeviciene S2020-01-01Clinical outcomes, Hidradenitis suppurativa, RegistryDermatology (Basel, Switzerland)
A focus on rare and undiagnosed skin diseases.Bauer JW, Schmuth M, Bodemer C2019-10-01Experimental dermatology
Mechanism of Oleogel-S10: A triterpene preparation for the treatment of epidermolysis bullosa.Schwieger-Briel A, Ott H, Kiritsi D, Laszczyk-Lauer M, Bodemer C2019-07-01birch bark, epidermolysis bullosa, oleogel-S10Dermatologic therapy
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Last update: January 18th, 2025 on 02:30