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 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)

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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)