Program
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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
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ADENAUER AMPHITHEATRE
GULBENKIAN ROOM
DAVID-WEILL ROOM
8:15
PLENARY 2
How to diagnose a rare skin diseaseChair: 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)
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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)