AUSTRIA
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH 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
Prof. Dr. Johann Bauer
Mag. Alfred Klausegger 
A.Klausegger@salk.at
 
Histology/ Immunohistochemistry of Epithelial Adhesion Disorders (all Epidermolysis bullosa types)
Electron microscopy of Epithelial Adhesion Disorders (all Epidermolysis bullosa types)
Molecular diagnosis of Epithelial Adhesion Disorders

Salzburger Landeskliniken/Molecular Dermatology
Laboratory for Molecular Therapy/EB House Austria
Müllner Hauptstraße 48
5020 Salzburg
Austria
Prof. Dr. Johann Bauer
Mag. Alfred Klausegger 
A.Klausegger@salk.at
 
Project title: Developing Spliceosome Mediated RNA Trans-Splicing (SMaRT) for Gene Therapy in Epidermolysis Bullosa Dystrophica Patients
Project title: Collagen 17A1 Gene Correction Using Spliceosome Mediated RNA Trans-splicing (SMaRT™) Technology
Project title: Therapy of nonsense associated mutations in the LAMB3 gene by modulation of the eukaryotic splicing machinery via antisense-strategy and coupled in vitro luminescence read-out assays
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 CENTERDIAGNOSTIC CENTERRESEARCH 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
Blanka Pinková MD
bpinkova@fnbrno.cz
Jana Kýrová MD., Ing.
jana.kyrova@fnbrno.cz
Zuzana Nagy MD
zuzana@strasak.com
Outpatient clinic for Genodermatoses or rare diseases

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
Romana Borská, Mgr.
romana.borska@fnbrno.cz
Molecular diagnosis of Genodermatoses and rare diseases

Department of Pathology
St. Anne´s University Hospital
Pekarska 53
656 91 Brno
Czech Republic
Dr. Karel Vesely 
karel.vesely@fnusa.cz
 
Histology/ Immunohistochemistry of Epithelial Adhesion Disorders (all Epidermolysis bullosa types)
Electron microscopy of Epithelial Adhesion Disorders (all Epidermolysis bullosa types)

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);

FRANCE
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

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

Necker hospital for sick children
Departments of Genetics
INSERM U781
Tour Lavoisier 3rd floor 
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
Paris
75015 France
Prof. Bodemer Christine 
Christine.Bodemer@nck.aphp.fr
 
Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric dermatology

Service de Dermatologie
centre de référence des épidermolyses bulleuses hérédiataires
Hôpital Archet 2
BP 3079
06202 Nice Cedex
France
Prof. Jean Paul Ortonne
Prof. Jean Philippe Lacour 
lacour@unice.fr
 
Dr. Christine Chiaverini
chiaverini.c@chu-nice.fr

Outpatient clinic for genodermatosis (CREBHN)

Necker hospital for sick children
Department of Genetics
INSERM U781
Tour Lavoisier, 3rd floor
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 dystrophic, dominant
Histology/ Immunohistochemistry of Epidermolysis bullosa dystrophic, Hallopeau-Siemens
Histology/ Immunohistochemistry of Epidermolysis bullosa dystrophic, non-Hallopeau-Siemens
Histology/ Immunohistochemistry of Epidermolysis bullosa dystrophic, pruriginosa/pretibialis
Histology/ Immunohistochemistry of Epidermolysis bullosa simplex, Dowling-Meara
Histology/ Immunohistochemistry of Epidermolysis bullosa simplex, Koebner
Histology/ Immunohistochemistry of Epidermolysis bullosa simplex, Weber-Cockayne
Histology/ Immunohistochemistry of Epidermolysis bullosa simplex, with mottled pigmentation
Histology/ Immunohistochemistry of Epidermolysis bullosa simplex, with muscular dystrophy
Molecular diagnosis of Epidermolysis bullosa dystrophic, dominant
Molecular diagnosis of Epidermolysis bullosa dystrophic, Hallopeau-Siemens
Molecular diagnosis of Epidermolysis bullosa dystrophic, non-Hallopeau-Siemens
Molecular diagnosis of Epidermolysis bullosa dystrophic, pruriginosa/pretibialis
Molecular diagnosis of Epidermolysis bullosa simplex, Dowling-Meara
Molecular diagnosis of Epidermolysis bullosa simplex, Koebner
Molecular diagnosis of Epidermolysis bullosa simplex, Weber-Cockayne
Molecular diagnosis of Epidermolysis bullosa simplex, with mottled pigmentation
Molecular diagnosis of Epidermolysis bullosa simplex, with muscular dystrophy

Centre de Référence des Epidermolyses Bulleuses Héréditaires 
Service de Dermatologie - Hopital Archet 2
151 Route Saint Antoine de Ginestière
BP3079 06202 Nice Cedex 3
France
Prof. Jean Philippe Lacour
Dr. Christine Chiaverini
laocur@unice.fr
chiaverini.c@chu-nice.fr
CREBHN@chu-nice.fr
Alexandra.Charlesworth@unice.fr 
and
INSERM U634
Faculté de Médecine
28, Ave de Valombrose
06107 Nice cedex 2
France
Alexandra Charlesworth 
Alexandra.Charlesworth@unice.fr
 
Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Molecular diagnosis of Epidermolysis bullosa dystrophic, dominant
Molecular diagnosis of Epidermolysis bullosa dystrophic, Hallopeau-Siemens
Molecular diagnosis of Epidermolysis bullosa dystrophic, non-Hallopeau-Siemens
Molecular diagnosis of Epidermolysis bullosa dystrophic, pruriginosa/pretibialis
Molecular diagnosis of Epidermolysis bullosa junctional, non-Herlitz
Molecular diagnosis of Epidermolysis bullosa junctional, Herlitz
Molecular diagnosis of Epidermolysis bullosa junctional, with pyloric atresia
Molecular diagnosis of Epidermolysis bullosa simplex, with muscular dystrophy

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

Necker hospital for sick children
Department of Genetics
INSERM U781
Tour Lavoisier, 3rd floor
149 rue de Sèvres
75743 Paris cedex 15
France
Prof. Alain Hovnanian, M.D., Ph.D. 
alain.hovnanian@inserm.fr
 
Research activities on: Gene therapy
Research activities on: Gene therapy, modifying genes
Research activities on: Pathophysiology

INSERM U634
27 ave Valombrose
06107 Nice cedex 2
France
Dr. Guerrino Meneguzzi
Carole Langueneur 
languene@unice.fr
 
Research activities on: Skintherapy
Research activities on: Gene therapy of junctional epidermolysis bullosa

MAGEC centre, Dermatology department 
INSERM U393, department of Genetics
Necker Enfants Malades Hospital, Assistance Publique,
149 rue de Sèvres
Paris
France
75015
Prof. Christine Bodemer
Christine.Bodemer@nck.aphp.fr 

Service de Dermatologie
centre de référence des épidermolyses bulleuses héréditaries
Hôpital Archet 2
BP 3079
06202 Nice Cedex
France
Prof. Jean Paul Ortonne
Prof. Jean Philippe Lacour
lacour@unice.fr
Dr. Christine Chiaverini
chiaverini.c@chu-nice.fr
Outpatient clinic for genodermatosis (CREBHN)

GERMANY
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Abteilung Molekulare Pädiatrie und des Kompetenzzentrums für ektodermale Dysplasien
Kinder- und Jugendklinik
Universitätsklinikum Erlangen
Loschgestrasse 15
91054 Erlangen
GERMANY
Prof. Dr. med. Holm Schneider
holm.schneider@uk-erlangen.de
Sekretariat: Michaela Schatz
michaela.schatz@uk-erlangen.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
 
Outpatient clinic for Epithelial Adhesion Disorders

Department of Dermatology, Venerology and Allergy
Charitéplatz 1
Berlin
10117 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 
Ludwig Maximilian University Munich
Frauenlobstraße 9-11
80337 München
Germany
PD Dr. Markus Braun-Falco
markus.braun-falco@med.uni-muenchen.de

Abteilung Molekulare Pädiatrie und des Kompetenzzentrums für ektodermale Dysplasien
Kinder- und Jugendklinik
Universitätsklinikum Erlangen
Loschgestrasse 15
91054 Erlangen
GERMANY
Prof. Dr. med. Holm Schneider
holm.schneider@uk-erlangen.de
Sekretariat: Michaela Schatz
michaela.schatz@uk-erlangen.de

Center for Human Genetics Freiburg
Heinrich-von-Stephan-Str. 5
79100 Freiburg
Germany
Prof. Dr. Jürgen Kohlhase MD
jkohlhase@humangenetik-freiburg.de
 
Molecular diagnosis of Epidermolysis bullosa dystrophic, dominant
Molecular diagnosis of Epidermolysis bullosa dystrophic, Hallopeau-Siemens
Molecular diagnosis of Epidermolysis bullosa dystrophic, non-Hallopeau-Siemens
Molecular diagnosis of Epidermolysis bullosa dystrophic, pruriginosa/pretibialis
Molecular diagnosis of Epidermolysis bullosa junctional, non-Herlitz
Molecular diagnosis of Epidermolysis bullosa junctional, Herlitz
Molecular diagnosis of Epidermolysis bullosa simplex, Dowling-Meara
Molecular diagnosis of Epidermolysis bullosa simplex, Koebner
Molecular diagnosis of Epidermolysis bullosa simplex, Weber-Cockayne
Molecular diagnosis of Epidermolysis bullosa simplex, with mottled pigmentation

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
Molecular diagnosis of Epidermolysis bullosa dystrophic, dominant
Molecular diagnosis of Epidermolysis bullosa dystrophic, Hallopeau-Siemens
Molecular diagnosis of Epidermolysis bullosa dystrophic, non-Hallopeau-Siemens
Molecular diagnosis of Epidermolysis bullosa dystrophic, pruriginosa/pretibialis
Molecular analysis of Epidermolysis bullosa junctional, Herlitz
Molecular analysis of Epidermolysis bullosa junctional, non-Herlitz
Molecular diagnosis of Epidermolysis bullosa simplex, Dowling-Meara
Molecular diagnosis of Epidermolysis bullosa simplex, Koebner
Molecular diagnosis of Epidermolysis bullosa simplex, Weber-Cockayne
Molecular diagnosis of Epidermolysis bullosa simplex, with mottled pigmentation
Molecular analysis of Kindler syndrome

Universitätsklinikum Heidelberg
Institute of Pathology Heidelberg IPH
EM-Labor
INF 224
69120 Heidelberg
GERMANY
Dr. Ingrid Haußer-Siller
Ingrid.Hausser-Siller@med.uni-heidelberg.de

Department of Dermatology
University of Cologne
Kerpener Strasse 62
50931 Köln
Germany
Meral Arin 
meral.arin@uk-koeln.de
 
Molecular diagnosis of Epidermolysis bullosa simplex, Dowling-Meara
Molecular diagnosis of Epidermolysis bullosa simplex, Koebner
Molecular diagnosis of Epidermolysis bullosa simplex, Weber-Cockayne
Molecular diagnosis of Epidermolysis bullosa simplex, with mottled pigmentation

Abteilung Molekulare Pädiatrie und des Kompetenzzentrums für ektodermale Dysplasien
Kinder- und Jugendklinik
Universitätsklinikum Erlangen
Loschgestrasse 15
91054 Erlangen
GERMANY
Prof. Dr. med. Holm Schneider
holm.schneider@uk-erlangen.de
Sekretariat: Michaela Schatz
michaela.schatz@uk-erlangen.de

University Freiburg - Medical Center
Department of Dermatology
Hauptstraße 7
79104 Freiburg i. Br.
Germany
Prof. Leena Bruckner-Tuderman 
sabine.acker-heinig@uniklinik-freiburg.de
 
Research activities on: Epidermolysis bullosa dystrophic, dominant
Research activities on: Epidermolysis bullosa dystrophic, Hallopeau-Siemens
Research activities on: Epidermolysis bullosa dystrophic, non-Hallopeau-Siemens
Research activities on: Epidermolysis bullosa dystrophic, pretibialis
Research activities on: Epidermolysis bullosa dystrophic, pruriginosa
Research activities on: Epidermolysis bullosa junctional, Herlitz
Research activities on: Epidermolysis bullosa junctional, non-Herlitz
Research activities on: Kindler syndrome

Department of Dermatology
University of Cologne
Kerpener Strasse 62
50931 Köln
Germany
Meral Arin 
meral.arin@uk-koeln.de
 
Project title: genotype-phenotype correlations in epidermolysis bullosa simplex

HUNGARY
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Dept. of Dermatology, Venerology and Dermatooncology
Semmelweis University
Mária str. 41
Budapest
H-1085 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
Budapest
Hungary
H-1085
Prof. Sarolta Kárpáti
Dr. Marta Medvecz
Dr. Krisztina Becker
Dr. Zsòfia Hatvani 
karsar@bor.sote.hu
 
Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders
Molecular diagnosis of Epidermolysis bullosa dystrophic, dominant
Molecular diagnosis of Epidermolysis bullosa dystrophic, Hallopeau-Siemens
Molecular diagnosis of Epidermolysis bullosa dystrophic, non-Hallopeau-Siemens
Molecular diagnosis of Epidermolysis bullosa dystrophic, pruriginosa/pretibialis
Molecular diagnosis of Epidermolysis bullosa junctional, non-Herlitz
Molecular diagnosis of Epidermolysis bullosa junctional, Herlitz
Molecular diagnosis of Epidermolysis bullosa simplex, Dowling-Meara
Molecular diagnosis of Epidermolysis bullosa simplex, Koebner
Molecular diagnosis of Epidermolysis bullosa simplex, Weber-Cockayne
Molecular diagnosis of Epidermolysis bullosa simplex, with mottled pigmentation

Department of Dermatology, Venerology and Dermatooncology
Semmelweis University
Mária str. 41
Budapest
Hungary
H-1085
Prof. Sarolta Kárpáti
Dr. Marta Medvecz
Dr. Kristina Becker
Dr. Zsòfia Hatvani
karsar@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 CENTERDIAGNOSTIC CENTERRESEARCH CENTER

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

   
ITALY
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

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

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

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

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 (Epidermolysis bullosa dystrophic, dominant, Epidermolysis bullosa dystrophic, pretibialis & pruriginosa, Epydermolysis bullosa junctional, Herliz, Epidermolysis bullosa simplex, Dowling-Meara, Epidermolysis bullosa simplex, Weber-Cockayne, Epidermolysis bullosa simplex, with muscular dystrophy, Kindler syndrome).

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

VII Division of Paediatric Dermatology
Istituto Dermopatico dell'Immacolata, IDI-IRCCS
Via dei Monti di Creta 104
00167 Rome
Italy
Dr. Mauro Paradisi
Dr. Corrado Angelo 
c.angelo@idi.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

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 Venturinicolombi@med.unibs.it 
Molecular analysis of Epidermolysis bullosa dystrophic, dominant and recessive

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

Department of Specialistic and Experimental Clinical Medicine,
Division of Clinical Dermatology
University of Bologna
via Massarenti 1
Bologna
40138 Italy
Prof. Claudio Varotti
Dr. Beatrice Passarini 
beatrice.passarini@unibo.it
 
Histology/ Immunohistochemistry of Epidermolysis bullosa dystrophic, dominant
Histology/ Immunohistochemistry of Epidermolysis bullosa dystrophic, pretibialis & pruriginosa
Histology/ Immunohistochemistry of Epidermolysis bullosa junctional, Herlitz
Histology/ Immunohistochemistry of Epidermolysis bullosa simplex, Dowling-Meara
Histology/ Immunohistochemistry of Epidermolysis bullosa simplex, Weber-Cockayne
Histology/ Immunohistochemistry of Epidermolysis bullosa simplex, with muscular dystrophy
Histology/ Immunohistochemistry of Kindler syndrome
Electron microscopy of Epidermolysis bullosa dystrophic, dominant
Electron microscopy of Epidermolysis bullosa dystrophic, pretibialis & pruriginosa
Electron microscopy of Epidermolysis bullosa junctional, Herlitz
Electron microscopy of Epidermolysis bullosa simplex, Dowling-Meara
Electron microscopy of Epidermolysis bullosa simplex, Weber-Cockayne
Electron microscopy of Epidermolysis bullosa simplex, with muscular dystrophy
Electron microscopy of Kindler syndrome

Laboratory of Molecular and Cell Biology
Istituto Dermopatico dell'Immacolata, IDI-IRCCS
Via Monti di Creta 104
Rome
Italy
00167
Prof. Giovanna Zambruno
Dr. Daniele Castiglia 
d.castiglia@idi.it
 
Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders
Molecular analysis of Epidermolysis bullosa dystrophic, dominant
Molecular analysis of Epidermolysis bullosa dystrophic, Hallopeau-Siemens
Molecular analysis of Epidermolysis bullosa dystrophic, non-Hallopeau-Siemens
Molecular analysis of Epidermolysis bullosa dystrophic, pruriginosa/pretibialis
Molecular diagnosis of Epidermolysis bullosa junctional, non-Herlitz
Molecular diagnosis of Epidermolysis bullosa junctional, Herlitz
Molecular diagnosis of Epidermolysis bullosa junctional, with pyloric atresia
Molecular diagnosis of Kindler syndrome

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 Venturinicolombi@med.unibs.it
Research title: Genotype-phenotype correlation in patients affected with dystrophic dystrophic epidermolysis bullosa

Laboratory of Molecular and Cell Biology
Istituto Dermopatico dell'Immacolata, IDI-IRCCS
Via Monti di Creta 104
Rome
Italy
00167
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

SPAIN
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER
   

Regenerative Medicine Unit
Unidad Mixta CIEMAT and
Universidad Carlos III de Madrid UC3M_CIBER on Rare Diseases
Complutense 22, Complutense University Campus
Madrid
Spain
28040
Prof. Dr. Marcela Del Rio Nechaevsky
marcela.delrio@ciemat.es and mrnechae@ing.uc3m.es
Research activities on: Gene Therapy - Tissue Engineering

SWEDEN
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

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

   
SWITZERLAND
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Service de Dermatologie et Vénéréologie
CHUV / FBM - UNIL
Hôpital de Beaumont
Lausanne
Suisse
1011
Prof. Daniel Hohl
Sohpie 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
Lausanne
Switzerland
1011
Prof. Daniel Hohl
Sophie Mercier
Sophie.Mercier@chuv.ch 
Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders
Molecular diagnosis of Epidermolysis bullosa junctional, non-Herlitz

 
THE NETHERLANDS
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Department of Dermatology
University Medical Centre Groningen
Hanzeplein 1
Groningen
the Netherlands
9700 RB
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

Clinical Genetics/DNA diagnostics
University Medical Centre Groningen
Hanzeplein 1
9700RB Groningen
The Netherlands
Prof. R.C. Sinke
Dr. Henny Lemmink 
H.H.Lemmink@umcg.nl
or secr-dna@medgen.umcg.nl 
Molecular diagnosis of Epidermolysis bullosa junctional, Herlitz
Molecular diagnosis of Epidermolysis bullosa junctional, non-Herlitz
Molecular diagnosis of Epidermolysis bullosa simplex, Dowling-Meara
Molecular diagnosis of Epidermolysis bullosa simplex, Koebner
Molecular diagnosis of Epidermolysis bullosa simplex, Weber-Cockayne
Molecular diagnosis of Epidermolysis bullosa simplex, with mottled pigmentation

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 (all Epidermolysis bullosa types)
Electron microscopy of Epithelial Adhesion Disorders

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

UNITED KINGDOM
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Centre Cutaneous Research
Barts/London SMD/QMUL
4 Newark St
London E1 2AT
UK
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
UK
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 dermatology

Molecular Genetics Laboratory
East of Scotland Regional Genetics Service
Ninewells Hospital
Dundee DD1 9SY
UK
David Baty, PhD (Head)
dbaty@nhs.net
Genetic testing for skin conditions

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
UK
Trish Dopping-Hepenstal 
trish.dopping-hepenstal@gsts.com
 
Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders
Molecular analysis of Epidermolysis bullosa dystrophic, dominant
Molecular analysis of Epidermolysis bullosa dystrophic, Hallopeau-Siemens
Molecular analysis of Epidermolysis bullosa dystrophic, non-Hallopeau-Siemens
Molecular analysis of Epidermolysis bullosa dystrophic, pruriginosa/pretibialis
Molecular analysis of Epidermolysis bullosa junctional, Herlitz
Molecular analysis of Epidermolysis bullosa junctional, non-Herlitz
Molecular analysis of Epidermolysis bullosa junctional, with pyloric atresia
Molecular analysis of Kindler syndrome

Genetic Skin Disease Group
St John's Institute of Dermatology - St Thomas' Hospital
Division of Genetics and Molecular Medicine
Westminster Bridge Road
London SE1 7EH
England
Prof. John McGrath 
john.mcgrath@kcl.ac.uk
 
Research activities on: Epidermolysis bullosa dystrophic, dominant
Research activities on: Epidermolysis bullosa dystrophic, Hallopeau-Siemens
Research activities on: Epidermolysis bullosa dystrophic, non-Hallopeau-Siemens
Research activities on: Epidermolysis bullosa dystrophic, pretibialis
Research activities on: Epidermolysis bullosa dystrophic, pruriginosa
Research activities on: Epidermolysis bullosa junctional, Herlitz
Research activities on: Epidermolysis bullosa junctional, non-Herlitz
Research activities on: Epidermolysis bullosa junctional, with pyloric atresia
Research activities on: Kindler syndrome