ePoster - Epidermal Differentiation Disorders

• 121 • A Heterozygous Missense Mutation in CARD14 in a Libyan Child With an Ichthyosis-Like Papulosquamous Syndrome: A Case Report > A. Abdelaziz ALAHLAFI (Al Baida) • 122 • Integrating Human Phenotype Ontology into Dermatology through Netherton Syndrome, showcase of the ERN-SKIN-HPO project > E. Edwin CUPERUS (Rotterdam) • 124 • Mandibuloacral Dysplasia Caused by a Homozygous LMNA Variant with Progeroid Features and Severe Cutaneous Manifestations > T. Thi Thu Phuong NGUYEN (Hanoi) • 127 • Hereditary spiny keratoderma in two patients with a mutation in DSP > Á. Ángel FERNÁNDEZ CAMPORRO (Oviedo) • 134 • Social Media Listening on Congenital Ichthyosis: Quantitative and Qualitative Findings > M. Maëlla SEVERINO-FREIRE (Toulouse) • 138 • Single-Allele Thermosensitive TGM1 Variant Causes Very Mild TGM1-nEDD > J. Juliette MAZEREEUW-HAUTIER (Toulouse) • 144 • GJB2-sEDD-mosaic in a newborn with erythrokeratoderma > P. Pablo LOPEZ BALBOA (London) • 15 • Identification of a Homozygous CYP4F22 Frameshift Variant Causing Non-Syndromic Epidermal Differentiation Disorder and Ocular Manifestations > E. Eveliina BRANDT (Helsinki) • 159 • Child with Epidermolytic KRT10-nDDE born to a Parent with an Epidermolytic Epidermal Nevus: Assessing the Risk of Mosaic Transmission to the Germline > M. Maria Elena GIMENO RIBES (Tres Cantos) • 160 • Reconsidering Efficacy and Safety: A Critical Appraisal of repurposing anti-inflammatory targeted drugs in Darier disease > M. Maëlla SEVERINO-FREIRE (Toulouse) • 162 • Terra Firma-Forme Dermatosis: Identification of a Characteristic Distribution Pattern > H. Hannah RAPPERT (Munich) • 163 • Palmoplantar Keratoderma: Investigating a Patient Cohort for Phenotypic and Genotypic Characteristics > H. Hannah RAPPERT (Munich) • 164 • A Descriptive Analysis of Children with Epidermolytic Ichthyosis in a UK national referral centre > S. Sumaiya ALAUDDIN (London) • 18 • The HRAS Variant c. 175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features > N. Nikole RAUTIAINEN (Helsinki) • 182 • Features of Paediatric Pachyonychia Congenita (KRT6A/6B/6C/16/17-pEDD) > R. Rebecca MCCARTHY (London) • 32 • Epidermolytic ichthyosis caused by a recessive mutation in KRT10: an exceptional form of ichthyosis with an uncertain prognosis > C. Christine CHIAVERINI • 38 • A case of IFAP / HDM syndrome > V. Vasiliki VOSYNIOTI (Athens) • 62 • Dry eyes in children with monogenic ichtyosis: beyond the skin > G. Giulia MARCHIONE (Paris) • 68 • Tailored medical care in Hailey-Hailey disease: a qualitative interview study > M-E. Marie-Eline DEBEUF (Maastricht) • 70 • Effectiveness of a targeted sequencing panel for molecular characterization of epidermal differentiation disorders > C. Constance DEBLOCK • 71 • Reproductive dilemmas in genodermatoses: international perspectives of couples/patients, caregivers, dermatologists and clinical geneticists > F. Fauve VAN VEEN (Maastricht) • 73 • Identifying Research Priorities for KRT1 and KRT10 Epidermal Differentiation Disorders: Epidermolytic Ichthyosis Community Survey 2026 > H. Helen LILL (Montagnola) • 77 • Ichthyosis–prematurity syndrome: clinical variability and founder effect in Reunion Island > J. Juliette MIQUEL (Paris) • 78 • A Long Road Through Pain: Failure of Erlotinib Therapy in Severe Inherited Palmoplantar Keratoderma > A. Anamaria BALIC (Zagreb) • 82 • Urinary tract malformation in four patients presenting a non syndromic autosomal recessive epidermal differentiation disorders > F. Florence ASSAN (Bordeaux) • 99 • Topical Treatments for Ichthyosis: From Patient Perspectives to Formulation Design > A. Ana Cristina RAMOS TORRES (Porto)