Epidermolysis Bullosa Simplex with Muscular Dystrophy - Specialized Centers

AUSTRIA
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER

Salzburger Landeskliniken
Molecular Dermatology/EB House Austria
Müllner Hauptstraße 48
5020 Salzburg
AUSTRIA
Prof. Dr. Johann Bauer
Lydia Stremnitzer
L.Stremnitzer@salk.at
Outpatient clinic for Epithelial Adhesion Disorders

Salzburger Landeskliniken/Molecular Dermatology
Diagnostic Laboratory
Müllner Hauptstraße 48
5020 Salzburg
AUSTRIA
Mag. Alfred Klausegger
A.Klausegger@salk.at
Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders
Molecular diagnosis of Epithelial Adhesion Disorders

Salzburger Landeskliniken/Molecular Dermatology
Laboratory for Molecular Therapy
Müllner Hauptstraße 48
5020 Salzburg
AUSTRIA
Mag. Alfred Klausegger
A.Klausegger@salk.at
Project title: 5` Spliceosome Mediated RNA Trans-Splicing gene-therapy for Plectin Deficient Epidermolysis Bullosa Patients
Project title: Screening for functional pre-trans-splicing molecules for gene therapy of EB-patients

CZECH REPUBLIC
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER
Department of Pediatric Dermatology
Children's Hospital - Faculty Hospital Brno, Masaryk University Brno
Genodermatoses Center
Cernopolni 9
66263 Brno
CZECH REPUBLIC
Hana Buchova Assist. Prof., MD., Ph.D.
hbuchov@fnbrno.cz
Jana Kýrová, MD., Ing.
jana.kyrova@fnbrno.cz

EB Centre Czech Republic
www.eb-centru.cz

Centre of Molecular Biology and Gene Therapy (CMBGT)
Faculty Hospital Brno, Masaryk University Brno
Jihlavská 20
62500 Brno
CZECH REPUBLIC
Lenka Fajkusová, Assist. Prof., Ph.D.
lfajkusova@fnbrno.cz
Lenka Kopecková, Ph.D.
lenka.kopeckova@fnbrno.cz
Molecular diagnosis of EBC

Department of Pathology
St. Anne´s University Hospital, Masaryk University Brno
Pekarska 53
656 91 Brno
CZECH REPUBLIC
Karel Vesely MD, Ph.D.
karel.vesely@fnusa.cz
Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders

Centre of Molecular Biology and Gene Therapy (CMBGT)
Faculty Hospital Brno, Masaryk University Brno
IGA MH CR, project NT14585: Genodermatoses- molecular causes and diagnostics (2013-2015);
IGA MH CR, project NR9346: Introduction of complex diagnostics of epidermolysis bullosa congenita in the Czech Republic (2007-2009)
FRANCE
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER

Department of Dermatology and Pediatric Dermatology, National reference centre for rare skin diseases
CHU de Bordeaux
Hôpital Pellegrin Enfants, Place Amélie Raba Léon
Bordeaux
33076 cedex
FRANCE
Prof. Alain Taïeb
alain.taieb@chu-bordeaux.fr
Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric dermatology

Service de Dermatologie
Hôpital Archet 2
BP 3079
06202 Nice Cedex
FRANCE
Prof. Jean Paul Ortonne
Prof. Jean Philippe Lacour
Dr. Christine Chiaverini
lacour@unice.fr chiaverini.c@chu-nice.fr
Outpatient clinic for genodermatosis

Department of Genetics
Necker hospital for sick children
Inserm U781, Tour Lavoisier
149 rue de Sèvres
75743 Paris cedex 15
FRANCE
Prof. Alain Hovnanian, M.D., Ph.D.
alain.hovnanian@inserm.fr
Outpatient clinic for Genodermatoses or rare diseases

MAGEC centre, Dermatology department
Necker Enfants Malades Hospital, Assistance Publique
149 rue de Sèvres
75015 Paris
FRANCE
Prof. Bodemer Christine
Christine.Bodemer@nck.aphp.fr
Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric dermatology

INSERM U634
27 ave Valombrose
06107 Nice cedex 2
FRANCE
Dr. Guerrino Meneguzzi
Alexandra Charlesworth
Alexandra.Charlesworth@unice.fr
Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Molecular diagnosis of Epidermolysis bullosa simplex, with muscular dystrophy

Department of Genetics
Necker hospital for sick children
Inserm U781, Tour Lavoisier
149 rue de Sèvres
75743 Paris cedex 15
FRANCE
Prof. Alain Hovnanian, M.D., Ph.D.
alain.hovnanian@inserm.fr
Histology/ Immunohistochemistry of Epidermolysis bullosa simplex, with muscular dystrophy
Molecular diagnosis of Epidermolysis bullosa simplex, with muscular dystrophy

MAGEC centre, Dermatology department
Necker Enfants Malades Hospital, Assistance Publique,
149 rue de Sèvres
75015 Paris
FRANCE
Prof. Christine Bodemer
Christine.Bodemer@nck.aphp.fr
Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders

Department of Genetics
Necker hospital for sick children
Inserm U781, Tour Lavoisier
149 rue de Sèvres
75743 Paris cedex 15
FRANCE
Prof. Alain Hovnanian, M.D., Ph.D.
alain.hovnanian@inserm.fr
Research activities on: Pathophysiology

GERMANY
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER

Department of Dermatology, Venerology and Allergy
Charitéplatz 1
10117 Berlin
GERMANY
Prof. Ulrike Blume-Peytavi
Dr. Karola Stieler
karola.stieler@charite.de
Outpatient clinic for Epithelial Adhesion Disorders
Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric Dermatology

Department of Dermatology
University Freiburg - Medical Center
Hauptstraße 7
79104 Freiburg i. Br.
GERMANY
Prof. Leena Bruckner-Tuderman
Daniela Kirstein
eb-zentrum@uniklinik-freiburg.de
Outpatient clinic for Epithelial Adhesion Disorders

Department of Dermatology
University Hospital
Von-Esmarch-Str. 58
48149 Muenster
GERMANY
PD Dr. Vinzenz Oji
Vinzenz.oji@ukmuenster.de
Outpatient clinic for Keratinization Disorders
and other genodermatoses

Center for Human Genetics Freiburg
Heinrich-von-Stephan-Str. 5
79100 Freiburg
GERMANY
Prof. Jürgen Kohlhase, MD
jkohlhase@humangenetik-freiburg.de

Department of Dermatology
University Freiburg - Medical Center
Hauptstraße 7
79104 Freiburg i. Br.
GERMANY
Prof. Leena Bruckner-Tuderman
Daniela Kirstein
eb-zentrum@uniklinik-freiburg.de
Histology/ Immunohistochemistry of Epithelial Adhesion disorders

 
HUNGARY
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER

Dept. of Dermatology, Venerology and Dermatooncology
Semmelweis University
Mária str. 41
1085 Budapest
HUNGARY
Prof. Sarolta Kárpáti
Dr. Marta Medvecz
Dr. Krisztina Becker
Dr. Zsòfia Hatvani
karsar@bor.sote.hu
Outpatient clinic for Epithelial Adhesion Disorders

Department of Dermatology, Venerology and Dermatooncology
Semmelweis University
Mária str. 41
1085 Budapest
HUNGARY
Prof. Sarolta Kárpáti
Dr. Marta Medvecz
Dr. Krisztina Becker
Dr. Zsòfia Hatvani
karsar@bor.sote.hu
Histology/Immunohistochemi stry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders

Department of Dermatology, Venerology and Dermatooncology
Semmelweis University
Mária str. 41
1085 Budapest
HUNGARY
Prof. Sarolta Kárpáti
Dr. Antal Blazsek
blazsek@bor.sote.hu
Project title: Genotype-phenotype correlation analysis in Hungarian cases of genodermatoses (Epidermolysis bullosa)
Project title: Improving methodics of mutation analysis and prenatal diagnostics in genodermatoses (Epidermolysis bullosa)

IRELAND
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER

Department of Dermatology
Our Lady's Children's Hospital
Crumlin
Dublin 12
IRELAND
Prof. Alan Irvine
airvine.sec@olchc.ie
Outpatient clinic for Epithelial Adhesion Disorders

   
ITALY
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER

Department of Specialistic and Experimental Clinical Medicine,
Division of Dermatology
University of Bologna
via Massarenti 1
40138 Bologna
ITALY
Prof. Annalisa Patrizi
Dr. Iria Neri
irianeri@aosp.bo.it
Outpatient clinic for Genodermatoses or rare diseases

Ambulatorio Malattie Rare
U.O. di Dermatologia
Azienda Ospedaliera Spedali Civili di Brescia
Piazzale Spedali Civili 1
25123 Brescia
ITALY
Dr. Andrea Brezzi
Prof. Piergiacomo Calzavara Pinton
Prof. Marina Colombi
Dr. Marina Venturini
dermatologia@spedalicivili.
brescia.it


Dipartimento di scienze dermatologiche
Via della Pergola, 58
50121 Florence
ITALY
Prof. Paolo Fabbri
fabbri@unifi.it
Outpatient clinic for Genodermatoses or rare diseases

Chirurgia Plastica e Ricostruttiva
Università degli Studi di Foggia
Viale Pinto
71100 Foggia
ITALY
Prof. Aurelio Portincasa
Prof. Domenico Parisi
d.parisi@unifg.it
Outpatient surgical clinic for Epithelial Adhesion Disorders

Centro per le malattie cutanee ereditarie
Istituto di Scienze Dermatologiche – Università di Milano
Via Pace 9
20122 Milano
ITALY
Dr. Gianluca Tadini
gtadinicmce@unimi.it
Outpatient clinic for Genodermatoses or rare diseases

U.O.C. di Dermatologia
Dipartimento di Medicina Pediatrica
IRCCS Ospedale Pediatrico Bambino Gesù
Piazza S. Onofrio 4
00165 Roma
ITALY
Dr May El Hachem (chief Unit of Dermatology)
Dr Andrea Diociaiuti
Dr Annalisa Ciasulli
may.elhachem@opbg.net
andrea.diociaiuti@opbg.net
Managing multidisciplinary approaches for Epidermolysis bullosa, Ichthyosis, Incontinentia Pigmenti and Vascular anomalies. Also for other several disorders, e.g. Ehlers-Danlos, NF, Ectodermal dysplasia etc

VII Division of Paediatric Dermatology
Istituto Dermopatico dell’Immacolata, IDI-IRCCS
Via dei Monti di Creta 104
00167 Rome
ITALY
Dr. Corrado Angelo
c.angelo@idi.it
Outpatient clinic for Genodermatoses and rare diseases

Department of Specialistic and Experimental Clinical Medicine,
Division of Clinical Dermatology
University of Bologna
via Massarenti 1
40138 Bologna
ITALY
Prof. Claudio Varotti
Dr. Beatrice Passarini
beatrice.passarini@unibo.it
Histology/ Immunohistochemistry of Epidermolysis bullosa simplex, with muscular dystrophy
Electron microscopy of Epidermolysis bullosa simplex, with muscular dystrophy

Department of Biomedical Sciences and Biotechnology, Division of Biology and Genetics
University of Brescia
Via Europa 11
25123 Brescia
ITALY
Dr. Andrea Brezzi
Prof. Piergiacomo Calzavara Pinton
Prof. Marina Colombi
Dr. Marina Venturini
colombi@med.unibs.it

Centro per le malattie cutanee ereditarie
Istituto di Scienze Dermatologiche – Università di Milano
Via Pace 9
20122 Milano
ITALY
Dr. Gianluca Tadini
gtadinicmce@unimi.it
Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders

Laboratory of Molecular and Cell Biology
Istituto Dermopatico dell'Immacolata, IDI-IRCCS
Via Monti di Creta 104
00167 Rome
ITALY
Prof. Giovanna Zambruno
Dr. Daniele Castiglia
d.castiglia@idi.it
Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders

Laboratory of Molecular and Cell Biology
Istituto Dermopatico dell'Immacolata, IDI-IRCCS
Via Monti di Creta 104
00167 Rome
ITALY
Prof. Giovanna Zambruno
Dr. Daniele Castiglia
d.castiglia@idi.it
Research title: Molecular mechanisms underlying epithelial- mesenchimal adhesion disorders
Research title: Development of novel diagnostic protocols for genodermatoses

SWEDEN
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER

Department of Dermatology - Genodermatosis Centre
Uppsala University Hospital
751 85 Uppsala
SWEDEN
Prof. Anders Vahlquist
Anders.Vahlquist@medsci.uu.se
Dr. Marie Virtanen
marie.virtanen@akademiska.se
Outpatient clinic for Genodermatoses or rare diseases

   
SWITZERLAND
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER

Service de Dermatologie et Vénéréologie
CHUV / FBM - UNIL
Hôpital de Beaumont
1011 Lausanne
SWITZERLAND
Prof. Daniel Hohl
Sophie Mercier
Sophie.Mercier@chuv.ch
Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric dermatology

Laboratoire de biologie cutanée
Service de Dermatologie - CHUV/FBM
Hôpital de Beaumont, BT - 437
1011 Lausanne
SWITZERLAND
Prof. Daniel Hohl
Dr. Marcel Huber
marcel.huber@chuv.ch
Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders

 
THE NETHERLANDS
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER

Department of Dermatology
University Medical Centre Groningen
Hanzeplein 1
9700 RB Groningen
THE NETHERLANDS
Prof. Marcel F. Jonkman
m.f.jonkman@derm.umcg.nl
Outpatient clinic for Epithelial AdhesionDisorders
Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric dermatology

Department of Dermatology
University Medical Centre Groningen
Hanzeplein 1
9700 RB Groningen
THE NETHERLANDS
Prof. Marcel F. Jonkman
m.f.jonkman@derm.umcg.nl
Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders

Dermatology
University Medical Centre Groningen
Hanzeplein 1
9700 RB Groningen
THE NETHERLANDS
Prof. Marcel F Jonkman
m.f.jonkman@derm.umcg.nl
Research activities on: Phenotype-genotype correlations

UNITED KINGDOM
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER

Centre Cutaneous Research
Barts/London SMD/QMUL
4 Newark St
London E1 2AT
UNITED KINGDOM
Dr. Edel O’Toole
e.a.otoole@qmul.ac.uk
Outpatient clinic for Genodermatoses or rare diseases

Genetic Skin Disease Group
St John’s Institute of Dermatology
St Thomas’ Hospital Westminster Bridge Road
London SE1 7EH
UNITED KINGDOM
Dr. Jemima Mellerio
jemima.mellerio@kcl.ac.uk
Outpatient clinic for Epithelial Adhesion Disorders
Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric dermatolog

Genetic Skin Disease Group Division of Genetics and Molecular Medicine
St John’s Institute of Dermatology St Thomas’ Hospital
Westminster Bridge Road
London SE1 7EH
UNITED KINGDOM
Trish Dopping-Hepenstal
trish.dopping-hepenstal@gsts.com
Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders