Program

	ADENAUER AMPHITHEATRE	GULBENKIAN ROOM	DAVID-WEILL ROOM
9:00		PATIENT FORUM Building global innovative collaboration for improved quality of life Chair: Durhane Wong-Rieger, Rare Disease International Successful collaborations with patients and patient organizations to improve quality of life: - Diagnosis: Antoine Gliksohn (Global Albinism Alliance) - Care (shared decision making): Eli Sprecher (Israel) - Treatment/Cure: Bronwyn Lewis - Access: Global Research on the Impact of Dermatological Diseases (GRIDD) – Dr. Rachael Patterson
11:00	BREAK
11:15	OPENING PLENARY Rare Skin Diseases: An opportunity for common diseases! Lessons from rare skin diseases Chair: Maya El-Hachem (Italy) - What we can learn about common disorders from monogenic disorders - Amy Paller (USA) - The fascination of describing new rare diseases - John McGrath (UK)
12:30	LUNCH
12:50		ALMIRALL SATELLITE SYMPOSIUM Advances in autoinflammatory skin diseases Chair: Christos Zouboulis (Germany) - A practical overview of pathogenesis, classification and diagnosis - Christos Zouboulis (Germany) - The growing toolbox of treatment options - Angelo Valerio Marzano (Italy)	IFPA SATELLITE SYMPOSIUM Skin Failure : A focus on GPP and other rare psoriatic disease - IFPA: Shining a spotlight on rare psoriatic disease - Sicily Mburu - Lived experience by preson living with rare psoriasis forms: Erythrodermic psoriasis and Generalized Pustular Psoriasis - Chiara Lionel Salim and Emmylou Casanova - Skin Fialure; Rare forms of skin disease and A case for GPP - Giovanni Damiani (Italy)
13:40	AMRYT SATELLITE SYMPOSIUM Building a Sustainable Future in Rare Disease Chair: Jemima Mellerio (UK) - Hope for Rare Disease - Joe Wiley - Rare Skin Disease - Christine Bodemer (France) - Epidermolysis Bullosa - Jemima Mellerio (UK)
14:35	WORKSHOP 1 Epidermolysis bullosa and fragility syndromes (1) Chair: Maya El Hachem (Italy) - EB Classification and diagnosis - Maya El-Hachem (Italy) - The challenging management of EB neonates - Nathalia Bellon (France) - Management of SCC in EB patients: prevention & treatment - Jemima Mellerio (UK) - Topical gene therapy for dystrophic epidermolysis bullosa - Peter Marinkovich (USA)	WORKSHOP 2 Hidradenitis suppurativa and related conditions Chair: Christos Zouboulis (Germany) - Registries - Mathieu Daoud (Belgium) - Outcomes Measures - Georgios Nikolakis (Germany) - HS Mutations - Chiara Moltrasio (Italy) - HS associated syndromes - Dorra Bouazzi (Denmark) - HS GWAS - Keylsey Van Straalen (USA)	WORKSHOP 3 Inherited Connective Tissue Disorders Chair: Bert Callewaert (Belgium) - Pseudoxanthoma elasticum: a reappraisal - Ludovic Martin (France) - Skin as a window on the molecular and clinical pathology in heritable connective tissue disorders - Peter Byers (USA) - Electron microscopy of defective elastic fibres to support a novel Cutis Laxa nosology - Bert Callewaert (Belgium)
15:35	BREAK
16:00	WORKSHOP 4 Epidermolysis bullosa and fragility syndromes (2) Chair: Johann Bauer (Austria) - Clinical trials: an overview - Johann Bauer (Austria) - Fibrosis in EB: pathogenesis and therapeutic perspectives - Leena Bruckner -Tuderman (Germany) - Gene therapy - Michele De Luca (Italy) and Laura De Rosa (Italy)	WORKSHOP 5 Severe drug reactions (1) - Epidermal necrolysis Chair: Saskia Oro (France) - What's new in Stevens-Johnson and toxic epidermal necrolysis? - Saskia Oro (France) - Management of ocular involvement in epidermal necrolysis: from the acute phase to sequelae - Julie Gueudry (France) - Update on epidermal necrolysis pathophysiology - Riichiro Abe (Japan)	WORKSHOP 6 Cutaneous vasculitis Chair: Angelo Marzano (Italy) - Cutaneous small-vessel vasculitis: nomenclature, diagnostic work-up and management - Angelo Marzano (Italy) - Adamantiades-Behcet's disease - Andreas Altenburg (Germany) - Köhlmeier-Degos disease (Malignant atrophic papulosis) - Vaiva Jariene (Lithuania)
17:10	WORKSHOP 7 Rare mosaic skin conditions Chair: Cristina Has (Germany) - Cutaneous mosaicism: codes and concepts - Veronica Kinsler (UK) - Mosaic skin disorders: translation from research to therapies - Pierre Vabres (France) - Linear porokeratosis: insights into molecular mechanisms - Cristina Has (Germany)	WORKSHOP 8 Severe drug reactions (2) Chair: Lars French (Germany) - Diagnosis, pathogenesis and management of Acute Generalized Exanthematous Pustulosis (AGEP) - Lars French (Germany) - Drug Rash with Eosinophilia and Systemic Symptoms (DRESS) from gene to clinic - Chia-Yu Chu (Taiwan) - Update on erythema multiforme - Sarah Walsh (UK)	WORKSHOP 9 Neurofibromatosis Chair: Pierre Wolkenstein (France) - What is new in neurofibromatosis? - Pierre Wolkenstein (France) - Dermatology and neurofibromatosis - Sirkku Peltonen (Sweden) - Understand and cure cutaneous neurofibromas in Neurofibromatosis type 1 - Piotr Topilko (France)
18:10	WELCOME DRINK

	ADENAUER AMPHITHEATRE	GULBENKIAN ROOM	DAVID-WEILL ROOM
8:15	PLENARY 2 How to diagnose a rare skin disease Chair: Christine Bodemer (France) - How to diagnose a rare genetic skin disease - Eli Sprecher (Israel) - Learning health system and artificial Intelligence for rare diseases - Nicolas Garcelon (France)
9:40	WORKSHOP 10 Complex vascular malformations and tumors (1) Chair: Olivia Boccara (France) - Update of the IISVA Classification - Juan Carlos López (Spain) - Slow flow vascular malformation - Olivia Boccara (France) - Theranostic medications for fast flow vascular malformation - Laurence Boon (Belgium)	WORKSHOP 11 Xeroderma Pigmentosum Chair: Fanny Morice-Picard (France) - Introduction - molecular and metabolic aspects of Xeroderma Pigmentosum - Fanny Morice-Picard (France) - Skin, Hair, Brain and More: Disorders of DNA Repair - John DiGiovanna (USA) - Xeroderma pigmentosum: What do we know about genotype- phenotype correlations? - Mark Berneburg (Germany)	WORKSHOP 12 Autoimmune bullous diseases (1) Chair: Pascal Joly (France) - Prognostic factors, mechanisms, and management of long term remission in pemphigus patients treated with rituximab - Pascal Joly (France) - Auto immune bullous skin diseases in children - Dedee Murrell (Australia) - IgG versus IgA Epidermolysis Bullosa Acquisita - Katharina Boch (Germany)
10:40	BREAK
11:10	WORKSHOP 13 Complex vascular malformations and tumors (2) Chair: Andrea Diociaiuti (Italy) - Capillary malformations with overgrowth - Andrea Diociaiuti (Italy) - Recent Theranostic Developments in Vascular Anomalies - Miikka Vikkula (Belgium) - Capillary malformations, Port-wine birthmarks and other flat cutaneous birthmarks: Genotype-Phenotype correlations - Ilona Frieden (USA)	WORKSHOP 14 Puzzling histological cases Chair: Daniel Hohl (Switzerland) - Dermato-Pathology correlations to know in rare skin diseases - Daniel Hohl (Switzerland) - Selected challenging clinicopathologic cases in pediatrics - Sylvie Fraitag (France) - Unusual presentation of a distinctive sweat gland carcinoma - Thomas Brenn (Canada)	WORKSHOP 15 Autoimmune bullous diseases (2) Chair: Branka Marinovic (Croatia) - Clinical aspects of pemphigus - Branka Marinovic (Croatia) - Bullous pemphigoid: practical challenges and advances in management - Luca Borradori (Switzerland) - Practical pearls/tips for the diagnosis and treatment of pemphigus (including a review on the approach to an oral biopsy) - Donna Culton (USA)
12:10	LUNCH
12:30		SATELLITE SYMPOSIUM: ASTRAZENECA Advances in Neurofibromatosis type 1 Chair: Pierre Wolkenstein (France) - A new therapeutic option for NF1-NFP – Dr Jordane Chaix (France) - Clinical Cases NF1-NFP – Dr Joao Passos (Portugal)	SATELLITE SYMPOSIUM: SUNPHARMA Actualities and management of LaBCC & clinical practice with Sonidegib
13:20	SYMPOSIUM KRYSTAL Skin Fragility and the Patient Journey in Dystrophic Epidermolysis Bullosa Chair: Christine Bodemer (France) - Dystrophic Epidermolysis Bullosa: A Patient Case - Jemima Mellerio (UK) - Dystrophic Epidermolysis Bullosa: Mechanism of Disease and Diagnosis - Cristina Has (Germany) - Manifestations, Complications, and Management of Dystrophic Epidermolysis Bullosa – Christine Bodemer (France)
14:15	PLENARY 3 Clinical trials and rare skin diseases: a challenge? Chair: Johan Bauer (Austria) - Clinical trials and rare skin diseases: a challenge? - Johann Bauer (Austria) - Legal and regulatory interface issues in the context of advanced medicinal products - Ilona Reischl (Austria)
15:25	WORKSHOP 16 Ichthyosis Chair: Keith Choate (USA) - Congenital ichthyosis are multisystemic diseases- Angela Hernández Martín (Spain) - Therapies for congenital ichthyoses - what works and what's new ? - Juliette Mazereeuw (France) - New insights into ichthyoses pathogenesis and treatment from genetic investigation - Keith Choate (USA) - Netherton syndrome: from pathogenesis to treatment - Alain Hovnanian (France)	WORKSHOP 17 Poster session Chair: Margarita Larralde (Argentina) and Cristina Has (Germany)	WORKSHOP 18 Autoinflammatory disease of the skin (1) Chair: Antonio Torrelo (Spain) - The skin in periodic fever syndromes - Seçil Vural (Turkey) - Generalized Pustular Psoriasis: Divergence of Innate and Adaptive Immunity - Adam REICH (Poland) - How to diagnose an autoinflammatory disease in children OR VEXAS syndrome: a not so rare AID - Juan Arostegui (Spain)
16:25	BREAK
16:55	WORKSHOP 19 Palmoplantar keratoderma Chair: Edel O'Toole (UK) - Phenotypic and pathogenetic heterogeneity in desmoglein deficiencies - Akiharu Kubo (Japan) - Pachyonychia congenita - Edel O'Toole (UK) - Unusual PPK cases - Peter Steijlen (Netherlands)	WORKSHOP 20 Rare skin cancers (1) on genodermatoses Chair: Sarah Guegan (France) - Melanoma and congenital melanocytic naevus - Sarah Guegan (France) - Gorlin's syndrome - Serguei Nikolaev (France) - Hereditary Melanoma - Lise Boussemart (France)	WORKSHOP 21 Autoinflammatory disease of the skin (2) Chair: Edward Cowen (USA) - Unraveling the pathophysiology of skin interferonopathies - Edward Cowen (USA) - The NLRP3 inflammasome and the skin - Karoline Krause (Germany) - Targeted drugs for skin autoinflammatory diseases - Marco Gattorno (Italy)
18:00	TRAINING Juniors challenge Seniors Chair: Danielle Marcoux (Canada), Dedee Murrell (Australia) and Rudolf Happle (Germany)

	ADENAUER AMPHITHEATRE	GULBENKIAN ROOM	DAVID-WEILL ROOM
8:15	PLENARY 4 Active research in rare skin diseases (Rising Stars) Chair: Smail Hadj-Rabia (France) and Erwin Tschachler (Austria)
9:40	WORKSHOP 22 Undiagnosed and or complex rare skin diseases: new entities, new clinical features, new treatments Chair: Amy Paller (USA) - New entities - John McGrath (UK) - New described forms of ichthyosis - Amy Paller (USA) Selected posters for discussion	WORKSHOP 23 Other rare diseases of the skin (1) - Congenital Hypotrichosis Chair: Arti Nanda (Kuwait) - News on Genetic Hair Disorders in Children - Regina Betz (Germany) - Syndromic Congenital Hypotrichosis: fixing the puzzles - Arti Nanda (Kuwait) - Genetic Hair Disorders in Translation - Eli Sprecher (Israel)	WORKSHOP 24 Pigmentation disorders Chair: Veronica Kinsler (UK) - Large café-au lait macules and/or large naevus spilus – what to do and why - Veronica Kinsler (UK) - Cell biology of Human skin pigmentation in health and disease - Cedric Delevoye (France) - The challenging management of patients with Albinism - Ester Moreno Artero (Spain)
10:40	BREAK
11:10	WORKSHOP 25 Incontinentia Pigmenti Chair: Christine Bodemer (France) - Incontinentia Pigmenti : the challenges in neonates - Christine Bodemer (France) - Brain involvement in Incontinentia pigmenti - insight from a translational model - Markus Schwaninger (Germany) - From the IP Phenotypic Variability to the Role of NEMO in Cell Death - Valeria Ursini (Italy)	WORKSHOP 26 Rare skin cancer (2) Chair: Celeste Lebbé (France) - Adnexal carcinoma - Maxime Battistella (France) - Merkel carcinoma - Jurgen Becker (Germany) - "Bêtes noires" at the microscope: potpourri of very rare skin tumors - Franco Rongioletti (Italy)	WORKSHOP 27 Formation à partir de cas cliniques (Session in French) Chair: Hamida Turki (Tunisie) and Stéphanie Leclerc-Mercier (France) - Cas pratiques de maladies rares - Ludovic Matin (France) - Nouvelles entités vasculaires - Olivia Boccara (France) - Formes rares de maladies bulleuses auto-immunes - Marina Alexandre (France) - Diagnostic d'une maladie rare; quand la clinique prime : Expérience maghrébine - Hamida Turki (Tunisie), Nadia Smaili (Maroc) & Asmahène Souissi (Tunisie) - Diagnostic histologique « facile » de maladies rares - Stéphanie Leclerc-Mercier (France)
12:10	LUNCH
13:20	SYMPOSIUM BOEHRINGER INGELHEIM Revisiting generalized pustular psoriasis (GPP) through the pathogenic role of the IL-36 pathway Chair: TBC - Where does it belong? Understanding key differences between GPP and psoriasis vulgaris – Hervé Bachelez (France) - New light on GPP epidemiological data and implication for clinical setting – Manuelle Viguier (France) - GPP phenotypes arising from mutation in the gene encoding the IL-36 receptor (IL-36R) antagonist – Slaheddine Marrakchi (Tunisia)
14:15	WORKSHOP 28 Other rare diseases of the skin (2) Chair: Eli Sprecher (Israel) - Rare diseases of skin ectopic calcification - Eli Sprecher (Israel) - Rare diseases of the nail unit - Edel O'Toole (UK) - Erythromelalgia - Celine Greco (France)	WORKSHOP 29 (in connexion with the ICED) Ectodermal dysplasias Chair: Smail Hadj-Rabia (France) and Holm Schneider (Germany) - Introduction to the classification of ectodermal dysplasias - Angus Clarke (UK) - Ectodermal dysplasias: Perspectives - Holm Schneider (Germany) - Management of ED patients- Gianluca Tadini (Italy)
15:25	CLOSING PLENARY OF THE WCRSD
16:30	ECTODERMAL DYSPLASIA UPDATES (first session of the ICED) Chairs: Maranke Koster and Angus Clarke - Update in clinics - Smail Hadj-Rabia (France) - From clinical observations to molecular pathology of ectodermal dysplasias - Maranke Koster (USA) - Ocular manifestations and management: Update - Serge Doan (France)