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

Dermatology
Innsbruck Medical University
Anichstr. 35
6020 Innsbruck
AUSTRIA
Prof. Matthias Schmuth
Dr. Robert Gruber
r.gruber@i-med.ac.at
Electron microscopy of Netherton syndrome

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

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 genodermatoses

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

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
Histology/ Immunohistochemistry
of Netherton syndrome
Molecular diagnosis of
Netherton syndrome

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
Electron microscopy of
Keratinization Disorders

Department of Genetics
Neckher 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 and Treatment

MAGEC centre, Dermatology
department INSERM U393
department of Genetics
Necker Enfants Malades Hospital,
Assistance Publique,
149 rue de Sèvres
75015 Paris
FRANCE
Prof. Christine Bodemer
Christine.Bodemer@nck.aphp.fr
Project title: Clinical,
immunohistochemical analysis and
research of a genotype/phenotype
correlation

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

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 Ludwig Maximilian University Munich Frauenlobstraße 9-11
80337 München
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 Outpatient clinic for Pediatric Dermatology

Department of Dermatology
University Hospital
Von-Esmarch-Str. 58
48149 Muenster
GERMANY
Prof. Heiko Traupe
Dr. Vinzenz Oji
Vinzenz.oji@ukmuenster.de
traupeh@ukmuenster.de
Outpatient clinic for Keratinization Disorders
Outpatient clinic for Genodermatoses or rare diseases

Department of Dermatology
University Hospital
Von-Esmarch-Str. 58
48149 Muenster
GERMANY
Prof. Heiko Traupe
Dr. Vinzenz Oji
Vinzenz.oji@ukmuenster.de
traupeh@ukmuenster.de
Histology/ Immunohistochemistry of Netherton syndrome

Center for Human Genetics Freiburg
Heinrich-von-Stephan-Straße 5
79100 Freiburg
GERMANY
Prof. Dr. Jürgen Kohlhase, MD
jkohlhase@humangenetik-freiburg.de
Molecular analysis of Netherton syndrome (SPINK5)

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
Electron microscopic investigation of skin biopsy

Department of Dermatology
University Hospital
Von-Esmarch-Str. 58
48149 Muenster
GERMANY
Dr. Heiko Traupe
Dr. Vinzenz Oji
Vinzenz.oji@ukmuenster.de
traupeh@ukmuenster.de
Project title: Immunohistochemical assessment of the skin

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, 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
Project title: Improving methodics of mutation analysis and prenatal diagnostics in genodermatoses

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

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

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

Unità Operativa Semplice di Genetica Clinica Dipartimento Ostetrico-Ginecologico e Pediatrico
Arcispedale S. Maria Nuova
Viale Risorgimento, 80
42100 Reggio Emilia
ITALY
Dr.ssa Livia Garavelli
garavelli.livia@asmn.re.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. Corrado Angelo
c.angelo@idi.it
Outpatient clinic for Genodermatoses or 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 Netherton syndrome
Electron microscopy of Netherton 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 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
Electron microscopy of Keratinization 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 Netherton syndrome
Molecular diagnosis of Netherton syndrome

Citogenetica e Genetica Molecolare
Servizio di Anatomia Patologica
Dipartimento dei Laboratori
Ospedale Pediatrico del Bambino Gesù
Polo di Ricerca
Dr. Adriano Angioni
Responsabile di Struttura Semplice adriano.angioni@opbg.net
Dr. Elisa Pisaneschi (co-worker)elisa.pisaneschi@opbg.net
Viale di S. Paolo 15
00146 Roma
ITALY
Molecular diagnosis of Ichthyosis, Netherton Syndrome etc.

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
Project title: Netherton syndrome: functional study of the detective gene SPINK5, and its encoded protein, LEKTI
Project title: Development of novel diagnostic protocols for genodermatoses

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

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

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

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
Outpatient clinic for pediatric dermatology