Department of Dermatology
Innsbruck Medical University
Anichstr. 35
6020 Innsbruck
AUSTRIA
Prof. Matthias Schmuth
Dr. Robert Gruber
r.gruber@i-med.ac.at
Outpatient clinic for Genodermatoses or rare diseases

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 Keratinization Disorders

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, 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)

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 cedex
FRANCE
Prof. Alain Taïeb
alain.taieb@chu-bordeaux.fr
Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric dermatology

Dermatologie générale adulte
CHU de Bordeaux - Hôpital Saint André
1 Rue Jean Burguet
33075 Bordeaux cedex
FRANCE
Dr Khaled Ezzedine
Reference centre for rare dermatologic diseases-adults

Service de dermatologie
CHU de Dijon - Complexe du Bocage
14 r Paul Gaffarel
21000 Dijon
FRANCE
Pr Pierre Vabres
Competence centre for rare genetic skin diseases

Service de dermatologie
Pôle des Spécialités Médico-Chirurgicales et Pôle Enfants
CHRU de Lille - Hôpital Claude Huriez
Rue Michel Polonovski
59037 Lille cedex
FRANCE
Dr Benoît Catteau
Competence centre for rare genetic skin diseases

Département de dermatologie
Pôle Cliniques médicales
CHRU de Montpellier - Hôpital Saint-Eloi
80 Avenue Augustin Fliche
34295 Montpellier cedex 5
FRANCE
Dr Didier Bessis
Competence centre for rare genetic skin diseases

Clinique dermatologique
CHU de Nantes - Hôtel Dieu
1 place Alexis Ricordeau
44093 Nantes cedex 1
FRANCE
Pr Jean-François Stalder
Competence centre for rare genetic skin diseases

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 Pediatric dermatology

Department of Genetics
Necker hospital for sick children
Inserm U781, Tour Lavoisier
149 rue de Sèvres
75015 Paris
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

Service de dermatologie
Centre de référence des maladies dermatologiques rares
CHU de Toulouse -
Hôpital Larrey
24 Chemin de Pouvourville - TSA 30030 31059 Toulouse cedex 9
FRANCE
Pr Juliette Mazereeuw-Hautier
Reference centre for rare dermatologic diseases

Service de dermatologie
CHRU de Tours - Hôpital Trousseau
Avenue de la République, Chambray-lès-Tours
37044 Tours cedex 9
FRANCE
Pr Gérard Lorette
Competence centre for rare genetic skin diseases

Department of Genetics
Necker hospital for sick children
Inserm U781, Tour Lavoisier
75743 Paris cedex 15
FRANCE
Prof. Alain Hovnanian, M.D., Ph.D.
alain.hovnanian@inserm.fr
Molecular diagnosis of Pachyonychia congenita type 1

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 Keratinization Disorders

Centre d'étude et de traitement des maladies génétiques à expression cutanée
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
1 Avenue Claude Vellefaux
75475 Paris cedex 10
FRANCE
Dr Claudine Blanchet-Bardon
Electron microscopy diagnosis of pachyonychia congenita
Electron microscopy of Keratinization Disorders

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 Keratinization Disorders
Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric Dermatology

Hautklinik
Universitätsklinikum Düsseldorf
Moorenstr. 5
40225 Düsseldorf
GERMANY
Pr Bernhard Homey
Dermatology clinic

FZSE - Freiburg Zentrum für Seltene Erkrankungen
Universitätsklinikum Freiburg
Mathildenstr. 1
79106 Freiburg
GERMANY
Pr Leena Bruckner-Tuderman
Rare genetic skin diseases clinic

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
Outpatient clinic for genodermatoses and rare skin diseases
Outpatient clinic for Keratinization Disorders

Klinik für Dermatologie und Allergologie
Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
Baldingerstraße
35043 Marburg
GERMANY
Pr Arne König
Genodermatoses clinic
Outpatient clinic for Pediatric Dermatology

Institut für Humangenetik
Biomedizinisches Zentrum
Universitätsklinikum Bonn
Sigmund-Freud-Str. 25
53105 Bonn
GERMANY
Pr Markus Nöthen
Molecular diagnosis of pachyonychia congenita

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 Genodermatoses or rare diseases
Outpatient clinic for Pediatric Dermatology

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

U.O. di Dermatologia
Dipartimento di Medicina Interna, dell'Invecchiamento e Malattie Nefrologiche
Azienda Ospedaliero Universitaria - Policlinico Sant'Orsola Malpighi
Via Massarenti 9
40138 Bologna
ITALY
Pr Annalisa Patrizi
Centre of expertise for rare skin diseasses

U.O. di Dermatologia
Ospedale Centrale di Bolzano
Via Lorenz Boehler 5
39100 Bolzano
ITALY
Pr Klaus Eisendle
Centre of expertise for rare skin diseases

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

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

Sezione Dermatologia
Dipartimento di Medicina Clinica e Chirurgia
Azienda Ospedaliera Universitaria "Federico II"
Via Sergio Pansini 5
80131 Napoli
ITALY
Pr Luigi Auricchio
Pr Nicola Balato
Centre of expertise for rare skin diseases

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 or rare diseases

U.O.C. Laboratorio di Genetica Medica
Sapienza Università di Roma
Azienda Ospedaliera S. Camillo-Forlanini
Circonvallazione Gianicolense 87
00152 Roma
ITALY
Dr Marco Castori
Dr Silvia Majore
Genodermatoses clinic

Centro Malattie Neurocutanee - D.A.I. Ematologia, Oncologia, Anatomia Patologica
Dipartimento Malattie Cutanee e Veneree
Policlinico Umberto I
Viale del Policlinico Umberto I 155
00161 Roma
ITALY
Dr Sandra Giustini
Centre of expertise for rare skin diseases

S.C. Dermatologia 2 - Ambulatorio MalattieRare
Dipartimento di Oncologia ed Ematologia
A.O. Città della Salute e della Scienza di Torino - Presidio San Lazzaro
Via Cherasco 23
10126 Torino
ITALY
Pr Maria Grazia Bernengo
Centre of expertise for rare skin diseases

U.O.S. di Dermatologia
Dipartimento per il Ritardo Mentale
IRCCS OASI Maria Santissima
Via Conte Ruggero 73
94018 Troina (EN)
ITALY
Dr Carmelo Schepis
Centre of expertise for rare genodertosis

Centro per le malattie cutanee ereditarie
Istituto di Scienze Dermatologiche - Università di Milano
Via Pace 9
20122 Milano
ITALY
MD Gianluca Tadini
gtadinicmce@unimi.it
Electron microscopy of Keratinization disorders

Servicio de Dermatología
Complejo Hospitalario Universitario A Coruña
Calle As Xubias, 84
15006 A Coruna
SPAIN
Dr Eduardo Fonseca Capdevila
Rare diseases of the skin clinic

Instituto de Medicina Genómica
IMEGEN - Instituto de Medicina Genómica
Calle Catedrático Agustín Escardino, 9
E46980 PATERNA
SPAIN
Dr Javier García Planells
Molecular diagnosis of pachyonychia congenita

LABGENETICS
Laboratorio de Genética Clínica, S.L.
Calle Poeta Rafael Morales, 2, 2ª planta
28702 San Sebastián De Los Reyes
SPAIN
Dr Jorge Puente Prieto
Molecular diagnosis of pachyonychia congenita

Regenerative Medicine Unit
Unidad Mixta CIEMAt and Unidversidad Carlos III de Madrid UC3M_CIBER on Rare Diseases
Complutense 22, Complutense University Campus
28040 Madrid
SPAIN
Prof. Marcela Del Rio Nechaevsky
marcela.deörop@ciemat.es and mrnechae@ing.uc3m.es
Project title: Development of in vivo disease model systems/ skin-humanized mouse model (pachyonychia congenita type 1)

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@akdemiska.se
Outpatient clinic for Genodermatoses or rare diseases

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

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 Genodermatoses or rare diseases

Afdeling Dermatologie
AZM - Academisch Ziekenhuis Maastricht
P. Debyelaan 25
6229 HX Maastricht
THE NETHERLANDS
Pr Maurice A.M. Van Steensel
Genodermatoses clinic

Dermatology
University Medical Centre Groningen
Hanzeplein 1
9700 RB Groningen
THE NETHERLANDS
Prof. Marcel F. Jonkman
m.f.jonkman@derm.umcg.nl
Electron microscopy of Pachyonychia congenita type 1

Department of Dermatology
Birmingham Children's Hospital
Steelhouse Lane
Birmingham B4 6NH
UNITED KINGDOM
Pr Celia Moss
Rare genetic skin disorders and tertiary dermatology clinic

Alan Lyell Dermatology Centre
Southern General Hospital
Address
Glasgow G51 4TF
UNITED KINGDOM
Prof. Colin Munro
colin.munro@clinmed.gla.ac.uk
Outpatient clinic for Genodermatoses or rare diseases

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 genodermatoses or rare diseases

Manchester Regional Genetics Service, Genetic Medicine, 6th Floor
Central Manchester University Hospitals NHS Foundation Trust
St Mary's Hospital
Oxford Road
Manchester M13 9WL
UNITED KINGDOM
Dr Fiona Lalloo
Manchester centre for genomic medicine

Molecular Genetics Laboratory
East of Scotland Regional Genetic Service
Ninewells Hospital
Dundee DD1 9SY
UNITED KINGDOM
David Baty, MD
Genetic testing for skin conditions