Agenda

ERN-Skin Scientific Day

Friday 19th February 2021  /  08:45 – 17:30 hrs

08:45 – 09:00 – OPENING

08:45 – 09:00  –  Welcoming speech – Christine Bodemer, ERN-Skin coordinator

 

09:00 – 14:00 – TRANSVERSAL SUBJECTS BY EACH THEMATIC GROUP

09:00 – 09:30  –  Autoimmune Bullous diseases

Incidence and severity of infection by the COVID-19 in patients with AIBD – Pascal Joly

Moderator – Biagio Didona, IRCCS-IDI, Rome, Italy

Pascal Joly
CHU Rouen, France

09:30 – 10:00  – Acquired immunologicaL LOw prevalence and Complex AdulT diseases of thE SKIN

  • 09:30    Hidradenitis suppurativa: What’s new – Gregor B.E. Jemec
  • 09:45    Adamantiades-Behçet’s disease: What’s new Christos Zouboulis

Moderator – Véronique Del Marmol, CUB – Hôpital Erasme, Brussels, Belgium

10:00 – 10:30  – Cutaneous diseases related to DNA repair disorders

  • 10:00    Spontanous splice variants of XP genes – Steffen Emmert
  • 10:15    Pigmentations anomalies in XP – Fanny Morice-Picard

Moderator – Fanny Morice-Picard, CHU de Bordeaux, France

Fanny Morice-Picard
CHU de Bordeaux, France

10:30 – 10:45 – BREAK

10:45 – 11:15  –  Inherited Epidermolysis Bullosa and skin fragility syndromes – Darier disease – Hailey-Hailey disease

Molecular mechanisms of Pruritus and pain in skin diseases – Martin Steinnhoff

Moderator – Cristina Has, University of Freiburg, Germany

Martin Steinhoff
Qatar University, Qatar / Weill Cornell University, NY, USA

11:15 – 11:45  – Ectodermal Dysplasias including Incontinentia Pigmenti and p63-associated disorders

Improvement of epidermal differentiation by PRIMA-1MET/APR-246. Relevance to skin diseases  – Daniel Aberdam

Moderator – Holm Schneider, University Hospital Erlangen, Germany

Daniel Aberdam
INSERM, Paris, France

11:45 – 12:15  – Ichthyosis and Palmoplantar Keratoderma

Drug repurposing of biologics used for atopic dermatitis and psoriasis – Vinzenz Oji / Kira Süßmuth

Moderator – May El Hachem, OPBG, Rome, Italy

12:15 – 12:30 – BREAK

12:30 – 13:00 –  Mendelian connective tissue disorders

  • 12:30   Burden of disease in Heritable Connective Tissue Disorders in childhood – Raoul H.H. Engelbert
  • 12:40    Heritable Connective Tissue Disorders and Hypermobility Spectrum Disorders in childhood: fatigue, pain, disability and wellbeing – Jessica Warnink-Kavelaars
  • 12:50    Inflammation in PXE skin – Ludovic Martin

Bert Callewaert, University Hospital Ghent, Belgium and Kathrin Giehl, Ludwig-Maximilian University, Munich, Germany

Raoul H.H. Engelbert
AMC, Amsterdam, Netherlands

Jessica Warnink-Kavelaars
AMC, Amsterdam, Netherlands

Ludovic Martin
CHU Angers, France

13:00 – 13:30 – Cutaneous Mosaic Disorders : Naevi & Naevoid skin disorders – Complex vascular malformations and cutaneous and subcutaneous vascular tumors

Neurological complications in mosaic disorders  – Alessandro Ferretti

Moderator – ‎Antonio Torrelo, Hospital del Niño Jesús, Madrid, Spain

Alessandro Ferretti
OPBG, Rome, Italy

13:30 – 14:00  –  Severe cutaneous drug reactions (ToxiTEN)

Supportive care of detached skin and mucosa  – Saskia Oro

Moderator – ‎Branka Marinovic, University Hospital Center Zagreb, Croatia

14:00 – 14:45 – LUNCH

14:45 – 15:45 – METHODOLOGY FOR RARE DISEASES CLINICAL TRIALS

  • 14:45   Bottlenecks in rare disease trials of the skin – Martin Laimer
  • 14:55   EJP-RD EB StatMax Project: How clinicans and statistians work together – Georg Zimmermann

Moderator – Ralf-Dieter Hilgers, Department of Medical Statistics MTZ, Aachen, Germany and Johann Bauer, University Hospital Salzburg, Austria

Georg Zimmermann
Paracelsus Medical University Salzburg, Austria

  • 15:05   To be confirmed – Ralf-Dieter Hilgers
  • 15:25    Discussion chaired by Ralph-Dieter Hilgers and Johann Bauer

Moderator – Ralf-Dieter Hilgers, Department of Medical Statistics MTZ, Aachen, Germany and Johann Bauer, University Hospital Salzburg, Austria

Ralf-Dieter Hilgers
Department of Medical Statistics MTZ, Aachen, Germany

15:45 – 17:30 – CLINICAL CASES BY EACH THEMATIC GROUP

  • 15:45   A case of unexpected worsening of pemphigus vulgaris after rituximab – Branka Marinovic
    Autoimmune Bullous diseases
  • 15:55   Late complication in a patient with severe recessive dystrophic EB – Cristina Has
    Inherited Epidermolysis Bullosa and skin fragility syndromes – Darier disease – Hailey-Hailey disease
  • 16:05 Oculo-Cutaneous Albinism type 4 (OCA4): phenotype-genotype correlation – Ester Moreno-Artero
    Cutaneous diseases related to DNA repair disorders

Moderator – Juliette Mazereeuw-Hautier, CHU – Hôpitaux de Toulouse, France and Andrea Diociauiti, OPBG, Rome, Italy

Ester Moreno-Artero
Clínica Universidad de Navarra, Madrid, Spain

16:15 – 16:30 – BREAK

  • 16:30 A male fetus with XLHED: Experimental treatment abroad during the pandemic – Holm Schneider
    Ectodermal Dysplasias including Incontinentia Pigmenti and p63-associated disorders
  • 16:40   Multidisciplinary approach and use of novel imaging techniques in a patient with pseudoxanthoma elasticum – Norbert Kiss
    Mendelian connective tissue disorders

Moderator – Juliette Mazereeuw-Hautier, CHU – Hôpitaux de Toulouse, France and Andrea Diociauiti, OPBG, Rome, Italy

  • 16:50    Severe Palmoplantar keratoderma and alopècia – Pau Rosés Gibert
    Ichthyosis and Palmoplantar Keratoderma
  • 17:00  Just a congenital vascular tumor? – Olivia Boccara
    Cutaneous Mosaic Disorders : Naevi & Naevoid skin disorders – Complex vascular malformations and cutaneous and subcutaneous  vascular tumors

Moderator – Edel O’Toole, Barts Health NHS Trust, London, United Kingdom

  • 17:10   Severe Immune Checkpoint Inhibitor Adverse Reaction resembling TEN – Sarah Walsh
    Severe cutaneous drug reactions (ToxiTEN)
  • 17:20   Adamantiades-Behçet’s disease and COVID 19 – Christos Zouboulis
    Acquired immunologicaL LOw prevalence and Complex AdulT diseases of thE SKIN

Moderator – Edel O’Toole, Barts Health NHS Trust, London, United Kingdom

Sarah Walsh
King’s college, London, United Kingdom

17:30 – CLOSING

17:30  –  Conclusion – Christine Bodemer, ERN-Skin coordinator