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 Pattinson

     

    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 - Lunchboxes are planned for symposium participants

       

    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 rare psoriatic disease

    - IFPA: Shining a spotlight on rare psoriatic disease - Sicily Mburu

    - Lived experience by person 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 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 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 in

    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 - Lunchboxes are planned for symposium participants

    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: Johann 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
    Ichthyoses
    Chair: Keith Choate (USA)

    - Congenital ichthyoses 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)

    - Selected posters for presentation and discussions

    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) 

    Chair: Sarah Guegan (France)

    - Melanoma and congenital melanocytic naevus - Sarah Guegan (France)
    - Genomic analysis of skin cancers from Xeroderma Pigmentosum subgroups revealed new mechanisms of UV mutagenesis Sergey Nikolaev (France)
    - Hereditary Melanoma - Lise Boussemart (France)

    WORKSHOP 21

    Autoinflammatory diseases 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: Antonio Torello (Spain)

    Danielle Marcoux (Canada), Dedee Murrell (Australia) and Rudolf Happle (Germany) will be challenged by Ingrid Hiltum (Spain), Leire Mitxelena (Spain), Bilal Tedbirt (France), Marina Macchiaiolo (Italy) and Marta Ivars (Spain)

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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)

    - Cutaneous neurofibromas in NF1: Update and perspectives - Laura Fertitta (France)

    - My personal experience – update on diagnosis and therapy of hereditary (blistering) skin diseases - Christine Prodinger (Austria)

    - Fibroblast subpopulations orchestrate chronic inflammation in Hidradenitis Suppurativa - Kelsey Van Straalen (USA)

    - Skin diseases: the challenge of non coding regions ? - Elodie Bal (France)

    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 - Lunchboxes are planned for symposium participants

    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 

    - 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

    15:30

      WELCOME TO ED2022 CONFERENCE  

    16:00

     

    FAMILY TESTIMONIAL

    Olivia Gross-Khalifa

     

    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)