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
Christine Bodemer
Hôpital Necker-Enfants Malades, Paris, France
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
Gregor B.E. Jemec
Zealand University Hospital, Roskilde, Denmark
Christos Zouboulis
Städtisches Klinikum Dessau, Germany
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
Steffen Emmert
University Medical Center Rostock, Germany
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
Vinzenz Oji
Universitätsklinikum Münster, Germany
Kira Süßmuth
Universitätsklinikum Münster, Germany
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
Saskia Oro
Hôpital Henri-Mondor, Paris, France
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
Martin Laimer
University Hospital Salzburg, Austria
Georg Zimmermann
Paracelsus Medical University Salzburg, Austria
- 15:05 Innovative statistical methodologies for RD clinical trials: Present and Future – 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
Johann Bauer
University Hospital Salzburg, Austria
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
Branka Marinovic
University Hospital Center Zagreb, Croatia
Cristina Has
University of Freiburg, Germany
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
Holm Schneider
University Hospital Erlangen, Germany
Norbert Kiss
Semmelweis University, Budapest, Hungary
- 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
Pau Rosés Gibert
Hospital Sant Joan de Déu, Barcelona, Spain
Olivia Boccara
Hôpital Necker-Enfants Malades, Paris, France
- 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
Christos Zouboulis
Städtisches Klinikum Dessau, Germany
17:30 – CLOSING
17:30 – Conclusion – Christine Bodemer, ERN-Skin coordinator
Christine Bodemer
Hôpital Necker-Enfants Malades, Paris, France