| Outcome measurement in pemphigus clinical research: a scoping review on heterogeneity in outcome reporting and definitions. | Hiel MAJ, Korte EWH, Tedbirt B, Bolling MC, Meijer JM, Spuls PI, van der Werf S, Yale M, Horváth B, Joly P | 2025-04-18 | | The British journal of dermatology |
| Effectiveness of Dupilumab and Omalizumab in Bullous Pemphigoid: A Nationwide Retrospective Cohort Study. | Avallone G, Maronese CA, Zussino M, Muratori S, Ferrucci SM, Quaglino P, Manni E, Romanelli M, De Simone C, Foti C, Gargiulo L, Maione V, Calzavara-Pinton P, Bardazzi F, Piraccini BM, Antiga E, Rech G, Balestri R, Vezzoli P, Sena P, Esposito M, Fargnoli MC, Termini D, Valtellini L, Satta RR, Vassallo C, Provini A, Di Zenzo G, Campanati A, Caproni M, Cozzani E, Ribero S, Marzano AV | 2025-04-16 | autoimmune bullous diseases, bullous pemphigoid, dupilumab, gliptin‐associated bullous pemphigoid, immunotherapy‐associated bullous pemphigoid, omalizumab | The Journal of dermatology |
| Treatment of Lamellar Ichthyosis in a 10-Year-Old Child With Secukinumab. | Mazzetto R, Caroppo F, Milan E, Cassalia F, Fortina AB | 2025-03-28 | IL17, genodermatoses, ichthyosis, itch, pain, quality of life, rare skin diseases, secukinumab | Journal of paediatrics and child health |
| Pregnancy-related issues in rare and low-prevalence diseases: results of ERN transversal working group on pregnancy and family planning survey. | Zucchi D, Marinello D, Tani C, Fulvio G, Aguilera S, Benachi A, Biller R, Blanco I, Borgards P, Boiteux MC, Brandi ML, Costafreda E, Fonseca JE, Fredi M, Iotova V, Louisse S, Nalli C, Onali M, Power B, Rousset-Jablonski C, Sturz D, Tincani A, Vieira A, Capela S, Dan D, De Backer J, de Die-Smulders C, Dufke A, Artzner EL, Limongelli G, Lorenz B, Papenthin W, Pascau MJ, Raidt J, Ray-Coquard I, Rimmer R, Röhl C, Schneider H, Yap T, Talarico R, Mosca M | 2025-03-10 | Pregnancy-related issues, Rare diseases, Unmet needs | Orphanet journal of rare diseases |
| Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis: How to Improve the Evaluation of Therapeutic Strategies. | Ingen-Housz-Oro S, French LE, Wolkenstein P | 2025-02-27 | Outcomes, Research, Stevens–Johnson syndrome, Toxic epidermal necrolysis, Treatment | The Journal of investigative dermatology |
| Potential role for IL-33 in the amplification of CD8+T cell mediated cytotoxic responses in epidermal necrolysis. | Lalevée S, Surenaud M, Tariq M, Ingen-Housz-Oro S, Jean-Louis F, Barau C, Meier-Schiesser B, De Prost N, Wolkenstein P, French LE, Ortonne N, Navarini AA, Lévy Y, Contassot E, Hüe S | 2025-02-20 | ST2L, cytotoxic T cells, epidermal necrolysis, interleukin-33, perforin | The Journal of investigative dermatology |
| Bullous pemphigoid with secondary acquired reactive perforating collagenosis: a challenging clinical case report. | Ruffo di Calabria V, Mariotti EB, Corrà A, Verdelli A, Quintarelli L, Aimo C, Di Zenzo G, Maio V, Massi D, Caproni M | 2025-02-06 | | Dermatology reports |
| Chiasmal Decussation in Oculo-Cutaneous Albinism Type 8. | Rateaux M, Hadj-Rabia S, Barrois R, Zambrowski O, Michaud V, Moreno-Artero E, Bremond-Gignac D, Javerzat S, Robert MP | 2025-02-03 | | Investigative ophthalmology & visual science |
| 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 A | 2025-01-06 | congenital DFSP, dermatofibrosarcoma protuberans, dermatology, misdiagnosis, pediatric sarcoma, pediatric skin cancer, rare skin cancer, soft tissue tumor | Cancers |
| 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 C | 2024-12-13 | | Journal 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 HJ | 2024-12-07 | dermatology, genotype, mosaicism, mutation, phenotype | Pediatric 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 F | 2024-11-21 | kid syndrome, medical honey, pediatric wound care, rare skin disorders, skin neoformations | Dermatology 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 AS | 2024-10-29 | | The 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 A | 2024-09-11 | | Reumatismo |
| 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 M | 2024-09-03 | fibronectin fragments, hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorders, osteoarthritis, psoriatic arthritis, rheumatoid arthritis, tenascin fragments, type I collagen fragments | American journal of medical genetics. Part A |
| Keratin variants in monilethrix. | Ortner-Tobider D, Trafoier T, Moosbrugger-Martinz V, Tollinger S, Gruber R, Schmuth M | 2024-08-28 | | The 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 A | 2024-08-01 | DEB, EB, congenital diseases, dystrophic epidermolysis bullosa, epidermolysis bullosa, genetic diseases, mutation, rare skin diseases | JAAD 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 S | 2024-07-18 | | Journal 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 KM | 2024-06-01 | compression therapy, full‐thickness skin graft, negative pressure wound therapy, skin cancer | International 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 LB | 2024-05-01 | AAGAB, Denmark, founder, haplotypes, palmoplantar keratoderma | Clinical 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 D | 2024-04-19 | Dermatology, Dystrophic epidermolysis bullosa, Epidermolysis bullosa simplex, Family burden, Inherited epidermolysis bullosa, Junctional epidermolysis bullosa, Kindler epidermolysis bullosa, Quality of life | Italian 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 C | 2024-04-17 | | The 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 S | 2024-04-12 | PBMCs, acne inversa, hidradenitis suppurativa, mesenchymal stem cells (MSCs), peripheral blood mononuclear cells | Journal 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 S | 2024-04-08 | DRESS (Drug reaction with eosinophilia and systemic symptoms), drug hypersensitivity reaction, management | Allergy |
| Plantar keratoderma and curly hair as a diagnostic clue of cardiomyopathy risk. | Gram SB, Brusgaard K, Bygum A, Christensen AH, Ousager LB | 2024-03-25 | DSP, cardiomyopathy, palmoplantar keratoderma | The 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 J | 2024-02-24 | ABCA12, autosomal recessive congenital ichthyosis (ARCI), erythrokeratodermia variabilis | Genes |
| 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 M | 2024-02-14 | Cowden syndrome, Multiple pulmonary carcinoids, PTEN mutation | Endocrine |
| 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 K | 2024-02-01 | | Journal 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 M | 2024-01-20 | TPCN2 gene, albinism, digenic inheritance, missing heritability | International 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 AB | 2024-01-01 | Adrenergic beta-antagonists, Long-term adverse effects, Parenting, Psychosocial functioning, Vascular tissue neoplasms | Dermatology (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 YT | 2024-01-01 | | JAMA 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 B | 2024-01-01 | | Dermatology 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 MM | 2024-01-01 | patient-reported outcomes, psoriasis, real-world, severity of illness index, systemic therapy | Frontiers in immunology |
| Epidermal necrolysis: a chronic disease associated with loss-of-life expectancy and lifetime healthcare expenditure. | Ingen-Housz-Oro S | 2023-10-25 | | The 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 J | 2023-10-01 | | Journal 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 A | 2023-09-28 | | Scientific 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 A | 2023-09-05 | | Scientific reports |
| Epidemiology of hidradenitis suppurativa. | Bukvić Mokos Z, Markota Čagalj A, Marinović B | 2023-09-01 | | Clinics 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 A | 2023-09-01 | DRESS, drug adverse reaction, oncology, transplantation | Clinical case reports |
| The genetic aspects of hidradenitis suppurativa. | Balić A, Marinović B, Bukvić Mokos Z | 2023-09-01 | | Clinics 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 SGMA | 2023-09-01 | | European 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 R | 2023-08-30 | | Acta 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 S | 2023-08-30 | | Acta 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 AS | 2023-05-01 | | Journal 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 MC | 2023-05-01 | Stevens-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 JD | 2023-04-01 | Angelman syndrome, COL17A1, PDZD7, UBE3A, autosomal recessive deafness type 57, case report, epidermolysis bullosa | Clinical 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 S | 2023-04-01 | | Journal 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 J | 2023-03-15 | ABCA12, ARCI, congenital ichthyosiform erythroderma, harlequin ichthyosis, lamellar ichthyosis | Genes |
| 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 SGMA | 2023-02-01 | Adrenergic beta-antagonists, Capillary hemangioma, Child, Cognition, Executive function, Infant, Long-term adverse effects, Neurocognitive disorders, Neuropsychological tests, Vascular malformations, Vascular tissue neoplasms, Wechsler scales | European 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 AV | 2023-02-01 | COVID-19, mRNA BNT162b2, mRNA-1273, pemphigus foliaceus, pemphigus vulgaris | The 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 M | 2023-01-01 | COVID-19, Lichen planus pemphigoides, SARS-CoV-2, autoimmunity, molecular mechanisms, viral infections | Frontiers 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 JW | 2023-01-01 | CMR, DSP, arrhythmogenic cardiomyopathy, cardiomyopathy, myocarditis, palmoplantar keratoderma | Frontiers 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 CEM | 2023-01-01 | alternative drug-to-market routes, marketing authorization, orphan drugs, patient access, rare diseases, regulatory framework | Frontiers 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 GFH | 2023-01-01 | | Journal of the European Academy of Dermatology and Venereology : JEADV |
| Multiple entzündliche Knötchen, Fisteln und Narben bei einem männlichen Patienten. | Velicˇkaite V, Jariene V, Valiukevicˇiene S | 2022-10-01 | | Journal 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 S | 2022-10-01 | | Journal 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 GBE | 2022-10-01 | | Journal 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 AMG | 2022-07-01 | | The 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 M | 2022-05-12 | Megalencephaly-capillary malformation, PIK3CA, Phenotype | Italian 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 EA | 2022-04-01 | | Clinical 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 E | 2022-03-01 | Adolescents, Children, Crusted scabies, Infants, Risk factors, Scabies norwegica | European 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 J | 2022-03-01 | Atopic dermatitis, DSC1, FinnGen, SERPINB7, genome-wide association | The 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 M | 2022-01-01 | COVID-19, COVID-19 vaccines, IgA vasculitis, cutaneous vasculitis, leukocytoclastic vasculitis, urticarial vasculitis, vaccine-induced vasculitis, vasculitis | Frontiers 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 C | 2022-01-01 | Chapel Hill Consensus Conference, addendum to Chapel Hill Consensus, nomenclature, provisional definitions of vasculitides, vasculitides | Frontiers 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 B | 2022-01-01 | desmoglein, efficacy, pemphigus, relapse, remission, rituximab | Frontiers in immunology |
| Pemphigus-The Crux of Clinics, Research, and Treatment during the COVID-19 Pandemic. | Marinović B, Miše J, Jukić IL, Bukvić Mokos Z | 2021-10-28 | COVID-19, SARS-CoV-2, desmoglein, immunodermatology, pemphigus, rituximab | Biomedicines |
| 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 K | 2021-09-01 | | Journal 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 S | 2021-09-01 | | The 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 M | 2021-05-01 | ISSVA, gastrointestinal tract, skin, vascular anomalies, venous malformations | Dermatologic therapy |
| Treatment of hereditary palmoplantar keratoderma: a review by analysis of the literature. | Bodemer C, Steijlen P, Mazereeuw-Hautier J, O'Toole EA | 2021-03-01 | | The 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 A | 2021-02-17 | Comorbidity, Disease registry, Mortality risk, Pharmacoepidemiology, Rare disease, Survival, Systemic sclerosis | Orphanet journal of rare diseases |
| Medical infrared thermography as hidradenitis suppurativa diagnostic tool: literature review. | Mazeika E, Jariene V, Valiukeviciene S | 2021-02-01 | hidradenitis suppurativa, medical infrared thermography, surgical treatment | Postepy 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 J | 2021-01-09 | ALOX12B, ALOXE3, ARCI, ichthyosis | Genes |
| Challenges in Treating Genodermatoses: New Therapies at the Horizon. | Morren MA, Legius E, Giuliano F, Hadj-Rabia S, Hohl D, Bodemer C | 2021-01-01 | cell therapy, genetic engeneering, genodermatoses, personalised medicine, reoriented drugs, unmet medical needs | Frontiers 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 M | 2021-01-01 | cell and gene therapy, clinical trial, epidermal stem cell, epidermolysis bullosa, genodermatoses, skin | Frontiers 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 DM | 2020-12-01 | IPL, acne inversa, hidradenitis suppurativa, intense pulse light, treatment | European 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 HH | 2020-12-01 | | JAMA dermatology |
| The Proteolytic Network in Palmoplantar Keratoderma: SERPINA12 Joins the Family. | Steele L, Tawfik SS, O'Toole EA | 2020-11-01 | | The Journal of investigative dermatology |
| Bleeding from the oral cavity: a new case of hematohidrosis. | Corrà A, Quintarelli L, Caproni M | 2020-11-01 | | International 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 EA | 2020-09-01 | Dermatology, Genetic diseases, Genetics, Nitric oxide, Skin | The 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 A | 2020-08-01 | | Journal 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 J | 2020-07-01 | | Journal 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 MP | 2020-05-01 | | Rheumatology (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 MP | 2020-05-01 | | Rheumatology (Oxford, England) |
| [Not Available]. | Süßmuth K, Traupe H, Metze D, Oji V | 2020-03-01 | | Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG |
| Pachyonychia congenita, a paradigm for rare skin disorders. | Steele L, O'Toole EA | 2020-03-01 | | The 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 S | 2020-03-01 | | Clinical genetics |
| Clinical Characteristics of Hidradenitis Suppurativa Patients from a Reference Centre in Kaunas, Lithuania. | Kucinskiene V, Jariene V, Valiukeviciene S | 2020-01-01 | Clinical outcomes, Hidradenitis suppurativa, Registry | Dermatology (Basel, Switzerland) |
| A focus on rare and undiagnosed skin diseases. | Bauer JW, Schmuth M, Bodemer C | 2019-10-01 | | Experimental 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 C | 2019-07-01 | birch bark, epidermolysis bullosa, oleogel-S10 | Dermatologic therapy |
