World Congress on Rare Skin Diseases 2024
12
nd
- 14
th
June 2024
Cité internationale universitaire de Paris
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Abstract
Bornes ePoster
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S1
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Bornes ePoster
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E-Posters
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1
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Factors Associated with the Prevalence of Depression among People with Oculocutaneous Albinism in Jinja, Uganda-A Cross Sectional Study
>
G.
Gaylord
Inena Wa Inena
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10
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Development of the Patient-Reported Impact of Dermatological Diseases (PRIDD) measure
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M.
Marc
YALE
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101
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Retrospective analysis of virtual gene panel analysis for genodermatoses reveals a high diagnostic yield in daily practice
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A.
Aude
BEYENS
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102
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An unexpected high prevalence of Focal Facial Dermal Dysplasia (FFDD) type IV is linked to a founder effect in the Belgian population
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K.
Karolien
Aelbrecht
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103
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Clinical and Immunological Characteristics among Patients with Autoimmune Bullous Diseases in the Hospital of Lithuanian University of Health Sciences Kauno Klinikos
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A.
Agne
Panaviene
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104
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Aging with inherited ichthyosis, perceived quality of life in middle- to old-aged patients: a qualitative study
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F.
Fauve
Van Veen
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105
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Real-life efficacy and safety of the MEK-inhibitor Selumetinib for treating plexiforme neurofibromas in NF1.
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P.
Pauline
Boitez
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108
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Molecular pathways and effects of HB0034 in generalized pustular psoriasis
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Q.
Qian
Qiaoxia
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109
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Effect of the Libyan Conflict on Genodermatoses’ service
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A.
Abdelaziz
ALAHLAFI
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11
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Cutis marmorta telangiectatica conginital of breast
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A.
Ajay
Deshpande
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112
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Rare DSP variant associates with palmoplantar keratoderma, wavy hair and arrhythmic cardiomyopathy
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E.
Eveliina
BRANDT
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113
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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
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F.
Fortunato
Cassalia
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116
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Mortality in Dystrophic Hereditary Epidermolysis Bullosa in the region of Sfax
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K.
Khadija
SELLAMI
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117
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A case of MEDNIK and a review of the literature
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A.
Alessandra
GELMETTI
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118
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A case of MDPL syndrome and a review of the literature
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F.
Francesca
BESAGNI
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12
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Epidermal nevi with postzygotic RAS/RAF pathogenic variants: genotype/ phenotype correlation.
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M-A.
Marie-Anne
MORREN
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120
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Encephalocraniocutaneous lipomatosis due to NRAS mutation: a case report and a review of the literature
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F.
Francesca
BESAGNI
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121
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Focal facial dermal dysplasia type IV: a case series
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L.
Laura
Gnesotto
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122
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Two cases of plantar fibromatosis associated with Dupuytren’s disease
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D.
Dorsaf
Mzoughi
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123
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Melanoma on Mal de Meleda : Rare association with significant consequences.
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E.
Eya
Rihani
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124
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Kaposi sarcoma: case report
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H.
Hilina
Tekola
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125
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Biological therapies in genodermatoses: the experience of Padua’s Referral Centre (ERN-skin)
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F.
Fortunato
Cassalia
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126
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Atrophoderma of Moulin, a rare mosaic condition. A new case and review of literature.
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G.
Gianluca
Tadini
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128
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Surgical Management of Hand Surgical Wounds in Epidermolysis Bullosa: a monocentric experience with dermal substitutes
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C.
Cristina
MAGNONI
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129
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Aplasia Cutis Congenita: consider Fetus Papyraceus !
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K.
Khadija
SELLAMI
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13
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Pediatric Hematidrosis of the Scalp: A Case Report
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M.
Mariem
Fazzeni
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131
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Microbiome alterations in Darier disease
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D.
Dóra
PLÁZÁR
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132
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Giant congenital melanocytic naevi: a report of 13 cases
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K.
Khadija
SELLAMI
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133
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Xeroderma Pigmentosum on a 7 month old baby
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G.
Gusti Ayu Vina Mery
Giovani
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134
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Epidermolysis Bullosa (EB) in Europe and the development in the last decade
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G.
Greta
Arias-Merino
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136
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Goltz syndrome or Focal Dermal hypoplasia: Case report
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A.
Anissa
ZAOUAK
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137
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cutaneous plasmacytosis
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F.
Fatimazahra
El Alaoui El Abidi
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139
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Patterns of Hair Loss and Trichoscopic Observations in Individuals with Autosomal Recessive Congenital Ichthyosis
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A.
Anissa
ZAOUAK
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14
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TUBERCULOUS GUMMA AND PAPULONECROTIC TUBERCULID - A rare case of co-existence of immunologically different spectrum of cutaneous tuberculosis
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M.
Mona
Sharma
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140
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Implementation of novel therapeutic aproaches in Epidermolyses bullosa treatment – One EB Center Experience
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J.
Jana
Kyrova
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141
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Itch in Ichthyosis: a prospective study of 20 Tunisian patients
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A.
Anissa
ZAOUAK
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142
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cantholytic dyskeratotic acanthoma revealed by a longitudinal erythronychia
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A.
Anissa
ZAOUAK
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143
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The usefulness of dermoscopy in the detection of infracentimetric basal cell carcinomas in patients with Xeroderma pigmentosum
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H.
Hanane
El Halla
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145
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The 2023 EB Insights Study; A large comprehensive patient-centric research study to qualify and quantify the impact of epidermolysis bullosa, in the UK
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S.
Sagair
Hussain
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146
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Inflammatory signatures in epidermolysis bullosa: a scoping review
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C.
Christine
PRODINGER
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147
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Trichoscopic findings in generalized pustular psoriasis : study of nine cases
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E.
Emna
Bahloul
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149
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A patient-reported outcome measure for epidermolysis bullosa: psychometric properties of the iscorEB-p
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G.
Gudrun
Salamon
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15
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Nevus Lipomatosus superficialis: an uncommon hamartoma
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M.
Mona
Sharma
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150
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A case of SAME syndrome successfully treated with secukinumab
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M.
Michela
Brena
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151
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Rothmund-Thomson syndrome type 1 due to homozygous ANAPC1 gene mutations- look them into the eyes!
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A.
Agnes
Schwieger-Briel
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154
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Integrative molecular analysis of skin tumors form CYLD cutaneous syndrome patients
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A.
Andrey
YURCHENKO
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155
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Paraneoplastic dermatomyositis: A retrospective study of 19 cases
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M.
Maissa
Abid
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156
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Carney Complex: A Case Report Emphasizing the Significance of Early Diagnosis
>
V.
Valentina
Ruffo Di Calabria
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159
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Pustular psoriasis of pregnancy: case report
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Y.
Yemisrach
Jemal
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160
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Neonatal erythroderma : A series of 10 cases.
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K.
Khadija
SELLAMI
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161
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Palmoplantar keratoderma and anhidrotic ectodermal dysplasia: an unusual association
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H.
Hela
Baccar
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164
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Case Series of Photoprotection in Xeroderma Pigmentosum in the UK
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R.
Richard
Barlow
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166
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The H syndrome : clinical and genetic features of a 9 patient case series
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K.
Khadija
SELLAMI
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168
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Paraneoplastic pemphigus as the initial presentation of Castleman disease in an adolescent girl
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K.
Kossara
DRENOVSKA
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169
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Epidermolysis bullosa in the Irish health care system: Psychosocial burdens and helpful practices for living with EB
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G.
Gudrun
Salamon
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175
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Diffuse hypochromic macules: What’s your diagnosis?
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H.
Hiba
Kherbach
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176
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Birch bark extract in the treatment of dystrophic epidermolysis bullosa - two patients from Bulgaria
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K.
Kossara
DRENOVSKA
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177
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X-Linked Dominant Chondrodysplasia Punctata (CDPX2): A Rare Case of Male Mosaicism with Atypical Dermatological Manifestations
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M.
Marta
Ivars Lleó
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178
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BCGites : A 40 case series of an overlooked complication
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K.
Khadija
SELLAMI
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181
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Hyperpigmentation and photosensitivity induced by mesalazine
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L.
Lydia
Iberraken
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183
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A case of a McCun Albright syndrome
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S.
Soukaina
Mhaimer
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185
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Epidemiological study of pemphigus in Algiers
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L.
Lydia
Iberraken
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186
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Xeroderma Pigmentosum, a case report of 2 siblings, Harar, Ethiopia
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190
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Epidermolysis bullosa acquisita pseudo-cicatricial pemphigoid in a child
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B.
Billal
Merrouche
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192
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Acute pancreatitis during multivisceral DRESS syndrome
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B.
Billal
Merrouche
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195
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Atypical variants of pemphigus: a retrospective Italian multicentric study
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L.
Lavinia
Quintarelli
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199
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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
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2
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Comorbidity of sickle cell trait and albinism: a cross-sectional survey in the Democratic Republic of the Congo
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G.
Gaylord
Inena
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20
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Mosaic KRAS mutation in Schimmelpenning syndrome with overlapping OES and ECCL features
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H.
Hanna
Hyvönen
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200
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Skin cancer associated with Xeroderma Pigmentosum.
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K.
Khadija
SELLAMI
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201
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Unraveling the rarest ectodermal dysplasias phenotypes and genotypes : an overview of the disorders recently introduced in the novel Ectodermal Dysplasias Classification
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G.
Gianluca
Tadini
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202
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Crusty lips in an acutely ill child: Think of Reactive infectious mucocutaneous eruption (RIME) first
>
I.
Isabelle
Luchsinger
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204
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Isolated generalized Palmo-Plantar Keratoderma due to keratin 16 gene mutation : descrition of a unique case
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G.
Gianluca
Tadini
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206
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Joint Involvement in Generalized Pustular Psoriasis: 8 Cases
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H.
Hamida
TURKI
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207
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Kaposi varicelliform eruption in patients with Darier’s disease: a rare complication of a rare disease
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A.
Arij
Lissir
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208
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From keloids to Rubinstein-Taybi syndrome
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L.
Luisa Fernanda
Montenegro Morillo
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21
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Benign familial chronic pemphigus - Case study
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J.
Jana
Schweigertová
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211
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Autosomal Recessive Congenital Ichthyosis due to NIPAL4 Mutations: clinical and genetic analysis of Twenty-five cases.
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H.
Hamida
TURKI
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214
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drug lichenoid induced by herceptin
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S.
Safae
Elmsayryb
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22
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It is all about skin care: An exploring study of parents’ experiences of caring for a child with Epidermolysis bullosa or Ichthyosis
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E.
Elisabeth
DAAE
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221
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Comprehensive dental treatment in patient with Junctional Epidermolysis Bullosa and Amelogenesis Imperfecta
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S.
Sebastián Alejandro
VÉLIZ MÉNDEZ
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222
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Contracture Releasing Otoplasty in Recessive Dystrophic Epidermolysis Bullosa
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S.
Susanne
Krämer
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223
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Prevalence Of Fordyce Granules In Children With Col17a1 Mutation
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S.
Susanne
Krämer
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24
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Efficacy and Safety of Rigosertib in Patients with Recessive Dystrophic Epidermolysis Bullosa (RDEB) Associated Advanced/Metastatic cutaneous Squamous Cell Carcinoma (cSCC)
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M.
Martin
LAIMER
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27
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Our experience of cutaneous squamous cell carcinoma treatment in patients with the dystrophic form of epidermolysis bullosa.
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D.
Daria
DROZDOVSKAYA
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28
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Patient and parent-reported health related quality of life in children with vascular malformations
>
M.
Maria Teresa
GARCIA-ROMERO
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29
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Health-related quality of life evaluation in epidermolysis bullosa
>
J.
Juan
Benito-Lozano
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30
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Validation of a treatment strategy using predictors of relapse in patients with pemphigus treated with rituximab
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M-L.
Marie-Laure
Golinski
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31
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Losartan Repurposing for Dystrophic Epidermolysis Bullosa
>
T.
Tobias
ZAHN
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32
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A clinicopathological paradigm of a progressive ulcer
>
A.
Amel
Alnuaimi
•
33
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Eczema and a knocked-out gene
>
A.
Amel
Alnuaimi
•
34
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T-cell-related skin inflammatory flareups with Th1 polarity in a patient with pseudoxanthoma elasticum
>
L.
Ludovic
MARTIN
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35
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A patient with Birt-Hogg-Dubé syndrome and development of renal cell cancer: a case presentation and review of the literature
>
P.
Panagiota
TANGA
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36
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Treatment of secondary squamous cell carcinoma in patients with dystrophic epidermolysis bullosa
>
D.
Daria
DROZDOVSKAYA
•
37
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Correlation of the Severity of Congenital Epidermolysis Bullosa with Nutritional Insufficiency
>
O.
Olga
Orlova
•
38
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Bone Mineral Density as a Sign of Nutritional Deficiency in Patients with Epidermolysis Bullosa
>
O.
Olga
Orlova
•
4
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Topical Application of 2% Simvastatin in the Treatment of Linear Porokeratosis – A Case Report
>
M.
Malgorzata
Dominiak
•
40
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Experience with the prolonged use of Dupilumab In Netherton Syndrome
>
M.
Mauricio
Torres
•
41
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Syndromic hidradenitis suppurativa in the European Registry for Hidradenitis Suppurativa (ERHS-Be)
>
A-S.
Anne-Sophie
SARKIS
•
43
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The state of procalcitonin in blood serum in patients with ulcerative skin lesions.
>
S.
Sardor
Obidov
•
44
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Epidermolysis bullosa and osteogenesis imperfecta.
>
E.
Elena
Belonogova
•
45
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Surgical treatment of hand deformity in Epidermolysis Bullosa.
>
A.
Alexander
Pleshkov
•
46
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Preliminary results of the real-world experience with Filsuvez® for chronic wounds in EB
>
C.
Cristina
HAS
•
47
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Cutaneous Leishmaniasis misdiagnosed as pyoderma gangrenosum
>
Y.
Yemisrach
Jemal
•
48
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Generalized Pustular Psoriasis: a multicentre study on patient characteristics and clinical burden
>
M.
Marie
NAJEAN
•
49
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Epidermolysis bullosa simplex and autism spectrum disorder. A case report.
>
S.
Sofia
Malakhova
•
50
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Core Outcome Set for Congenital Melanocytic Naevi
>
A.
Anne
Fledderus
•
51
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Granulosis Rubra Nasi: case report and brief review of literature
>
G.
Girum
Assefa
•
54
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Faun tail Nevus without any underlying neurologic disease
>
Y.
Yemisrach
Jemal
•
58
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CLDN1 and CLDN16 deletion leading to neonatal-ichthyosis with sclerosing cholangitis and renal tubulopathy
>
H.
Hande
ERMIS AKKUS
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6
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Inflammatory Linear Verrucous Epidermal Nevus (ILVEN) Mimicking Cutaneous Malignancy
>
S.
Sophie Carrie Shan
Cai
•
60
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Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort
>
L.
Leonie
Frommherz
•
61
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Novel homozygous variant in POMP causing ichthyosis with palmoplantar keratoderma
>
L.
Liisa
HARJAMA
•
63
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Improved outcomes of patients with vascular malformations treated at a multidisciplinary vascular anomalies clinic.
>
M.
Maria Teresa
GARCIA-ROMERO
•
64
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Prevalence and pathogenic activity of anti-Desmocollin-3 antibodies in patients with pemphigus vulgaris and pemphigus foliaceus
>
M-L.
Marie-Laure
Golinski
•
65
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ABCA 12 congenital ichthyosis, from acral abnormalities to systemic manifestations
>
N.
Nathalia
BELLON
•
67
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Skin at School: how to discuss skin, common skin problems and skin conditions with primary school students
>
J.
Jolien
Van Der Geugten
•
68
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Successful treatment of atopic dermatitis and X-linked ichthyosis with dupilumab
>
L.
Luca
Mastorino
•
69
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C-Reactive protein: Its Role in Nail Psoriasis and Prospects for Diagnosis and Treatment
>
B.
Bekzod
Parpiyev
•
7
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Oleogel-S10 reduces dressing changes burden in patients with epidermolysis bullosa
>
D.
Dimitra
KYRITSI
•
70
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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
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Development of a Core Outcome Set for Inherited Ichthyosis (COSII): identification and management of heterogeneity through a scoping review
>
V.
Vanya
Rossel
•
72
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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
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Patient Journey Cutis Marmorata Teleangiectatica Congenita (CMTC)
>
L.
Lex
VAN DER HEIJDEN
•
75
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Characterization of endothelial cell death in the NemobeKO model of incontinentia pigmenti
>
R.
Raoul
Strasburger
•
76
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ERN-Skin ePAG Advocates
>
M-C.
Marie-Claude
BOITEUX
•
77
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ERN-Skin ePAG Patient Satisfaction Questionnaire
>
M-C.
Marie-Claude
BOITEUX
•
78
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Mutations associated to rare skin diseases affect the cellular dynamic of the DNA repair factor TFIIH.
>
A.
Amélie
ZACHAYUS
•
79
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XPD mutations inducing rare skin disorders differentially affect DNA repair, transcription and mitosis.
>
C.
Clémence
Elly
•
8
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Clinical and genetic characterisation of a large cohort of Danish patients with palmoplantar keratoderma
>
S.
Stine B.
Gram
•
80
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Spontaneous regression in merkel cell carcinoma: a new case report
>
A.
Anissa
ZAOUAK
•
81
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Strategy for the optimization of read-through therapy for junctional epidermolysis bullosa with COL17A1 nonsense mutation
>
B.
Beyza S.
Sayar
•
82
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Non-Pachyonychia Congenita Conditions in the International Pachyonychia Congenita Research Registry
>
J.
Janice
SCHWARTZ
•
83
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Pachyonychia Congenita Project: A Model for Advancing Research and Drug Development Through Collaboration
>
J.
Janice
SCHWARTZ
•
84
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Acute cutaneous lupus erythematosus induced by terbinafine
>
A.
Anissa
ZAOUAK
•
85
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Quality of Life and Pain Burden in Pachyonychia Congenita
>
J.
Janice
SCHWARTZ
•
86
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Bloom Syndrome: a case without classical dermatological findings
>
H.
Hande
ERMIS AKKUS
•
87
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Features of Ichthyoses due to CYP4F22 Mutations
>
N.
Nathalia
BELLON
•
88
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Onset of VEXAS syndrome after SARS-CoV-2 infection in a child of the first year of life
>
N.
Nikolay
MURASHKIN
•
89
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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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