World Congress on Rare Skin Diseases 2024 12nd - 14th June 2024 Cité internationale universitaire de Paris

Bornes ePoster

S1 > Bornes ePoster E-Posters

1 Factors Associated with the Prevalence of Depression among People with Oculocutaneous Albinism in Jinja, Uganda-A Cross Sectional Study > G. Gaylord Inena Wa Inena 10 Development of the Patient-Reported Impact of Dermatological Diseases (PRIDD) measure > M. Marc YALE 101 Retrospective analysis of virtual gene panel analysis for genodermatoses reveals a high diagnostic yield in daily practice > A. Aude BEYENS 102 An unexpected high prevalence of Focal Facial Dermal Dysplasia (FFDD) type IV is linked to a founder effect in the Belgian population > K. Karolien Aelbrecht 103 Clinical and Immunological Characteristics among Patients with Autoimmune Bullous Diseases in the Hospital of Lithuanian University of Health Sciences Kauno Klinikos > A. Agne Panaviene 104 Aging with inherited ichthyosis, perceived quality of life in middle- to old-aged patients: a qualitative study > F. Fauve Van Veen 105 Real-life efficacy and safety of the MEK-inhibitor Selumetinib for treating plexiforme neurofibromas in NF1. > P. Pauline Boitez 108 Molecular pathways and effects of HB0034 in generalized pustular psoriasis > Q. Qian Qiaoxia 109 Effect of the Libyan Conflict on Genodermatoses’ service > A. Abdelaziz ALAHLAFI 11 Cutis marmorta telangiectatica conginital of breast > A. Ajay Deshpande 112 Rare DSP variant associates with palmoplantar keratoderma, wavy hair and arrhythmic cardiomyopathy > E. Eveliina BRANDT 113 Novel Variant c.7795-1G>A of COL7A1 Gene in a 12-month-old Female Child with Recessive Dystrophic Epidermolysis Bullosa successfully treated with Dupilumab > F. Fortunato Cassalia 116 Mortality in Dystrophic Hereditary Epidermolysis Bullosa in the region of Sfax > K. Khadija SELLAMI 117 A case of MEDNIK and a review of the literature > A. Alessandra GELMETTI 118 A case of MDPL syndrome and a review of the literature > F. Francesca BESAGNI 12 Epidermal nevi with postzygotic RAS/RAF pathogenic variants: genotype/ phenotype correlation. > M-A. Marie-Anne MORREN 120 Encephalocraniocutaneous lipomatosis due to NRAS mutation: a case report and a review of the literature > F. Francesca BESAGNI 121 Focal facial dermal dysplasia type IV: a case series > L. Laura Gnesotto 122 Two cases of plantar fibromatosis associated with Dupuytren’s disease > D. Dorsaf Mzoughi 123 Melanoma on Mal de Meleda : Rare association with significant consequences. > E. Eya Rihani 124 Kaposi sarcoma: case report > H. Hilina Tekola 125 Biological therapies in genodermatoses: the experience of Padua’s Referral Centre (ERN-skin) > F. Fortunato Cassalia 126 Atrophoderma of Moulin, a rare mosaic condition. A new case and review of literature. > G. Gianluca Tadini 128 Surgical Management of Hand Surgical Wounds in Epidermolysis Bullosa: a monocentric experience with dermal substitutes > C. Cristina MAGNONI 129 Aplasia Cutis Congenita: consider Fetus Papyraceus ! > K. Khadija SELLAMI 13 Pediatric Hematidrosis of the Scalp: A Case Report > M. Mariem Fazzeni 131 Microbiome alterations in Darier disease > D. Dóra PLÁZÁR 132 Giant congenital melanocytic naevi: a report of 13 cases > K. Khadija SELLAMI 133 Xeroderma Pigmentosum on a 7 month old baby > G. Gusti Ayu Vina Mery Giovani 134 Epidermolysis Bullosa (EB) in Europe and the development in the last decade > G. Greta Arias-Merino 136 Goltz syndrome or Focal Dermal hypoplasia: Case report > A. Anissa ZAOUAK 137 cutaneous plasmacytosis > F. Fatimazahra El Alaoui El Abidi 139 Patterns of Hair Loss and Trichoscopic Observations in Individuals with Autosomal Recessive Congenital Ichthyosis > A. Anissa ZAOUAK 14 TUBERCULOUS GUMMA AND PAPULONECROTIC TUBERCULID - A rare case of co-existence of immunologically different spectrum of cutaneous tuberculosis > M. Mona Sharma 140 Implementation of novel therapeutic aproaches in Epidermolyses bullosa treatment – One EB Center Experience > J. Jana Kyrova 141 Itch in Ichthyosis: a prospective study of 20 Tunisian patients > A. Anissa ZAOUAK 142 cantholytic dyskeratotic acanthoma revealed by a longitudinal erythronychia > A. Anissa ZAOUAK 143 The usefulness of dermoscopy in the detection of infracentimetric basal cell carcinomas in patients with Xeroderma pigmentosum > H. Hanane El Halla 145 The 2023 EB Insights Study; A large comprehensive patient-centric research study to qualify and quantify the impact of epidermolysis bullosa, in the UK > S. Sagair Hussain 146 Inflammatory signatures in epidermolysis bullosa: a scoping review > C. Christine PRODINGER 147 Trichoscopic findings in generalized pustular psoriasis : study of nine cases > E. Emna Bahloul 149 A patient-reported outcome measure for epidermolysis bullosa: psychometric properties of the iscorEB-p > G. Gudrun Salamon 15 Nevus Lipomatosus superficialis: an uncommon hamartoma > M. Mona Sharma 150 A case of SAME syndrome successfully treated with secukinumab > M. Michela Brena 151 Rothmund-Thomson syndrome type 1 due to homozygous ANAPC1 gene mutations- look them into the eyes! > A. Agnes Schwieger-Briel 154 Integrative molecular analysis of skin tumors form CYLD cutaneous syndrome patients > A. Andrey YURCHENKO 155 Paraneoplastic dermatomyositis: A retrospective study of 19 cases > M. Maissa Abid 156 Carney Complex: A Case Report Emphasizing the Significance of Early Diagnosis > V. Valentina Ruffo Di Calabria 159 Pustular psoriasis of pregnancy: case report > Y. Yemisrach Jemal 160 Neonatal erythroderma : A series of 10 cases. > K. Khadija SELLAMI 161 Palmoplantar keratoderma and anhidrotic ectodermal dysplasia: an unusual association > H. Hela Baccar 164 Case Series of Photoprotection in Xeroderma Pigmentosum in the UK > R. Richard Barlow 166 The H syndrome : clinical and genetic features of a 9 patient case series > K. Khadija SELLAMI 168 Paraneoplastic pemphigus as the initial presentation of Castleman disease in an adolescent girl > K. Kossara DRENOVSKA 169 Epidermolysis bullosa in the Irish health care system: Psychosocial burdens and helpful practices for living with EB > G. Gudrun Salamon 175 Diffuse hypochromic macules: What’s your diagnosis? > H. Hiba Kherbach 176 Birch bark extract in the treatment of dystrophic epidermolysis bullosa - two patients from Bulgaria > K. Kossara DRENOVSKA 177 X-Linked Dominant Chondrodysplasia Punctata (CDPX2): A Rare Case of Male Mosaicism with Atypical Dermatological Manifestations > M. Marta Ivars Lleó 178 BCGites : A 40 case series of an overlooked complication > K. Khadija SELLAMI 181 Hyperpigmentation and photosensitivity induced by mesalazine > L. Lydia Iberraken 183 A case of a McCun Albright syndrome > S. Soukaina Mhaimer 185 Epidemiological study of pemphigus in Algiers > L. Lydia Iberraken 186 Xeroderma Pigmentosum, a case report of 2 siblings, Harar, Ethiopia 190 Epidermolysis bullosa acquisita pseudo-cicatricial pemphigoid in a child > B. Billal Merrouche 192 Acute pancreatitis during multivisceral DRESS syndrome > B. Billal Merrouche 195 Atypical variants of pemphigus: a retrospective Italian multicentric study > L. Lavinia Quintarelli 199 Redefining the role of barrier ointments in Epidermolytic Ichthyosis: a multi-patient perspective on the benefits of baking soda baths and ceramide emollients > H. Helen Lill 2 Comorbidity of sickle cell trait and albinism: a cross-sectional survey in the Democratic Republic of the Congo > G. Gaylord Inena 20 Mosaic KRAS mutation in Schimmelpenning syndrome with overlapping OES and ECCL features > H. Hanna Hyvönen 200 Skin cancer associated with Xeroderma Pigmentosum. > K. Khadija SELLAMI 201 Unraveling the rarest ectodermal dysplasias phenotypes and genotypes : an overview of the disorders recently introduced in the novel Ectodermal Dysplasias Classification > G. Gianluca Tadini 202 Crusty lips in an acutely ill child: Think of Reactive infectious mucocutaneous eruption (RIME) first > I. Isabelle Luchsinger 204 Isolated generalized Palmo-Plantar Keratoderma due to keratin 16 gene mutation : descrition of a unique case > G. Gianluca Tadini 206 Joint Involvement in Generalized Pustular Psoriasis: 8 Cases > H. Hamida TURKI 207 Kaposi varicelliform eruption in patients with Darier’s disease: a rare complication of a rare disease > A. Arij Lissir 208 From keloids to Rubinstein-Taybi syndrome > L. Luisa Fernanda Montenegro Morillo 21 Benign familial chronic pemphigus - Case study > J. Jana Schweigertová 211 Autosomal Recessive Congenital Ichthyosis due to NIPAL4 Mutations: clinical and genetic analysis of Twenty-five cases. > H. Hamida TURKI 214 drug lichenoid induced by herceptin > S. Safae Elmsayryb 22 It is all about skin care: An exploring study of parents’ experiences of caring for a child with Epidermolysis bullosa or Ichthyosis > E. Elisabeth DAAE 221 Comprehensive dental treatment in patient with Junctional Epidermolysis Bullosa and Amelogenesis Imperfecta > S. Sebastián Alejandro VÉLIZ MÉNDEZ 222 Contracture Releasing Otoplasty in Recessive Dystrophic Epidermolysis Bullosa > S. Susanne Krämer 223 Prevalence Of Fordyce Granules In Children With Col17a1 Mutation > S. Susanne Krämer 24 Efficacy and Safety of Rigosertib in Patients with Recessive Dystrophic Epidermolysis Bullosa (RDEB) Associated Advanced/Metastatic cutaneous Squamous Cell Carcinoma (cSCC) > M. Martin LAIMER 27 Our experience of cutaneous squamous cell carcinoma treatment in patients with the dystrophic form of epidermolysis bullosa. > D. Daria DROZDOVSKAYA 28 Patient and parent-reported health related quality of life in children with vascular malformations > M. Maria Teresa GARCIA-ROMERO 29 Health-related quality of life evaluation in epidermolysis bullosa > J. Juan Benito-Lozano 30 Validation of a treatment strategy using predictors of relapse in patients with pemphigus treated with rituximab > M-L. Marie-Laure Golinski 31 Losartan Repurposing for Dystrophic Epidermolysis Bullosa > T. Tobias ZAHN 32 A clinicopathological paradigm of a progressive ulcer > A. Amel Alnuaimi 33 Eczema and a knocked-out gene > A. Amel Alnuaimi 34 T-cell-related skin inflammatory flareups with Th1 polarity in a patient with pseudoxanthoma elasticum > L. Ludovic MARTIN 35 A patient with Birt-Hogg-Dubé syndrome and development of renal cell cancer: a case presentation and review of the literature > P. Panagiota TANGA 36 Treatment of secondary squamous cell carcinoma in patients with dystrophic epidermolysis bullosa > D. Daria DROZDOVSKAYA 37 Correlation of the Severity of Congenital Epidermolysis Bullosa with Nutritional Insufficiency > O. Olga Orlova 38 Bone Mineral Density as a Sign of Nutritional Deficiency in Patients with Epidermolysis Bullosa > O. Olga Orlova 4 Topical Application of 2% Simvastatin in the Treatment of Linear Porokeratosis – A Case Report > M. Malgorzata Dominiak 40 Experience with the prolonged use of Dupilumab In Netherton Syndrome > M. Mauricio Torres 41 Syndromic hidradenitis suppurativa in the European Registry for Hidradenitis Suppurativa (ERHS-Be) > A-S. Anne-Sophie SARKIS 43 The state of procalcitonin in blood serum in patients with ulcerative skin lesions. > S. Sardor Obidov 44 Epidermolysis bullosa and osteogenesis imperfecta. > E. Elena Belonogova 45 Surgical treatment of hand deformity in Epidermolysis Bullosa. > A. Alexander Pleshkov 46 Preliminary results of the real-world experience with Filsuvez® for chronic wounds in EB > C. Cristina HAS 47 Cutaneous Leishmaniasis misdiagnosed as pyoderma gangrenosum > Y. Yemisrach Jemal 48 Generalized Pustular Psoriasis: a multicentre study on patient characteristics and clinical burden > M. Marie NAJEAN 49 Epidermolysis bullosa simplex and autism spectrum disorder. A case report. > S. Sofia Malakhova 50 Core Outcome Set for Congenital Melanocytic Naevi > A. Anne Fledderus 51 Granulosis Rubra Nasi: case report and brief review of literature > G. Girum Assefa 54 Faun tail Nevus without any underlying neurologic disease > Y. Yemisrach Jemal 58 CLDN1 and CLDN16 deletion leading to neonatal-ichthyosis with sclerosing cholangitis and renal tubulopathy > H. Hande ERMIS AKKUS 6 Inflammatory Linear Verrucous Epidermal Nevus (ILVEN) Mimicking Cutaneous Malignancy > S. Sophie Carrie Shan Cai 60 Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort > L. Leonie Frommherz 61 Novel homozygous variant in POMP causing ichthyosis with palmoplantar keratoderma > L. Liisa HARJAMA 63 Improved outcomes of patients with vascular malformations treated at a multidisciplinary vascular anomalies clinic. > M. Maria Teresa GARCIA-ROMERO 64 Prevalence and pathogenic activity of anti-Desmocollin-3 antibodies in patients with pemphigus vulgaris and pemphigus foliaceus > M-L. Marie-Laure Golinski 65 ABCA 12 congenital ichthyosis, from acral abnormalities to systemic manifestations > N. Nathalia BELLON 67 Skin at School: how to discuss skin, common skin problems and skin conditions with primary school students > J. Jolien Van Der Geugten 68 Successful treatment of atopic dermatitis and X-linked ichthyosis with dupilumab > L. Luca Mastorino 69 C-Reactive protein: Its Role in Nail Psoriasis and Prospects for Diagnosis and Treatment > B. Bekzod Parpiyev 7 Oleogel-S10 reduces dressing changes burden in patients with epidermolysis bullosa > D. Dimitra KYRITSI 70 Life with EB in Ireland: An international review of quality-of-life and comparison of access to healthcare resources and government supports. > S. Sarah Mullins 71 Development of a Core Outcome Set for Inherited Ichthyosis (COSII): identification and management of heterogeneity through a scoping review > V. Vanya Rossel 72 The challenge of defining novel DSG1 variants for disease severity in Severe dermatitis, multiple Allergies and Metabolic wasting (SAM) syndrome and palmoplantar keratoderma > V. Vanya Rossel 74 Patient Journey Cutis Marmorata Teleangiectatica Congenita (CMTC) > L. Lex VAN DER HEIJDEN 75 Characterization of endothelial cell death in the NemobeKO model of incontinentia pigmenti > R. Raoul Strasburger 76 ERN-Skin ePAG Advocates > M-C. Marie-Claude BOITEUX 77 ERN-Skin ePAG Patient Satisfaction Questionnaire > M-C. Marie-Claude BOITEUX 78 Mutations associated to rare skin diseases affect the cellular dynamic of the DNA repair factor TFIIH. > A. Amélie ZACHAYUS 79 XPD mutations inducing rare skin disorders differentially affect DNA repair, transcription and mitosis. > C. Clémence Elly 8 Clinical and genetic characterisation of a large cohort of Danish patients with palmoplantar keratoderma > S. Stine B. Gram 80 Spontaneous regression in merkel cell carcinoma: a new case report > A. Anissa ZAOUAK 81 Strategy for the optimization of read-through therapy for junctional epidermolysis bullosa with COL17A1 nonsense mutation > B. Beyza S. Sayar 82 Non-Pachyonychia Congenita Conditions in the International Pachyonychia Congenita Research Registry > J. Janice SCHWARTZ 83 Pachyonychia Congenita Project: A Model for Advancing Research and Drug Development Through Collaboration > J. Janice SCHWARTZ 84 Acute cutaneous lupus erythematosus induced by terbinafine > A. Anissa ZAOUAK 85 Quality of Life and Pain Burden in Pachyonychia Congenita > J. Janice SCHWARTZ 86 Bloom Syndrome: a case without classical dermatological findings > H. Hande ERMIS AKKUS 87 Features of Ichthyoses due to CYP4F22 Mutations > N. Nathalia BELLON 88 Onset of VEXAS syndrome after SARS-CoV-2 infection in a child of the first year of life > N. Nikolay MURASHKIN 89 Patient Journey Congenital Melanocytic Naevus Syndrome > M. Marjolein VAN KESSEL 90 Keratitis-ichthyosis-deafness syndrome: A novel phenotype from North Africa: Two cases Report > S. Sarah Benredjal 91 Acute generalized exanthematous pustulosis following a spider bite > B. Billal Merrouche 93 Granulomatous mycosis fungoides and classic mycosis fungoides: an exceptional coexistence > B. Billal Merrouche 94 Urbach-Wiethe lipoid proteinosis: a rare geondermatosis > B. Billal Merrouche 95 Pure cutaneous IgA vasculitis in an elderly person > B. Billal Merrouche 96 Favorable results of etanercept in the treatment of Toxic Epidermal Necrolysis (TEN). > B. Biagio DIDONA 98 Clinical characterististics of livedoid vasculopathy patients > K. Kirsi Isoherranen 99 Systemic anti-inflammatory therapy in congenital ichthyosis: real world-experience in a case series > L. Laura Trefzer

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