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

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

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

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
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

Genetic Stability and Oncogenesis
UMR 8200 CNRS
Institut Gustave Roussy
PR2,
114, Edouard Vaillant
94805 Villejuif
FRANCE
Dr. Alain Sarasin
alain.sarasin@gustaveroussy.fr; sarasin@igr.fr

Department of Dermatology and Venerology
Georg-August-University Goettingen
von-Siebold-Strasse 3
37075 Goettingen
GERMANY
Prof. Steffen Emmert
semmert@gwdg.de
Outpatient clinic for DNA-Repair 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 DNA-Repair 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
Outpatient clinic for genodermatoses and rare skin diseases
Outpatient clinic for Pediatric Dermatology

Department of Dermatology and Venerology
Georg-August-University Goettingen
von-Siebold-Strasse 3
37075 Goettingen
GERMANY
Prof. Steffen Emmert
semmert@gwdg.de
Research activities on: Trichothiodystrophy

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/ Immunohistochemistry of DNA-repair disorders
Electron microscopy of DNA-repair disorders

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

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

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

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

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

ARS RADIOLOGICA s.r.l.
Piazza N. Sauro, 6
Ruffano (LECCE)
73049 ITALY
Dr. Alessandro Castriota Scanderbeg
scanderbeg@arsradiologica.it
Radiologic diagnosis of genetic 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 Trichothiodystrophy
Electron microscopi of Trichothiodystrophy

Human Genetics and Genomics Section
Institute of Molecular Genetics, National Research Council of Italy
via Abbiategrasso, 207 -
27100 Pavia
ITALY
Dr. Miria Stefanini
stefanini@igm.cnr.it
Cell Biology of DNA-repair disorders
Molecular analysis of DNA-repair disorders

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

Human Genetics and Genomics Section
Institute of Molecular Genetics, National Research Council of Italy
via Abbiategrasso, 207
27100 Pavia
ITALY
Dr. Miria Stefanini
stefanini@igm.cnr.it
Research activities on: Trichothiodystrophy

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

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

ErasmusMC, Erasmus University Medical Center Rotterdam
P.O. Box 2040, 3000 CA Rotterdam, The Netherlands
Department of Clinical Genetics
Dr. Y. van Ierland, MD, PhD, Clinical Geneticist
Dr. C.H.A. Nuiten, MSc, Nurse Specialist
Department of Paediatrics
Dr. C.R. Lincke, MD, PhD; Dr. B.J. Sibbles, MD, Paediatrician
Department of Neurology
Dr. M.C.Y. de Wit, MD, PhD, Paediatric Neurologist
Department of Dermatology
Prof. S.G.M.A. Pasmans, Paediatric Dermatologist
Department of Internal Medicine
Dr. L.C.G. de Graaff, Internist-Endocrinologist
Contact: DNArepair@erasmusmc.nl
https://encore-expertisecentrum.nl/en/cases/dna-repair/

ENCORE Expertise Center for Neurodevelopmental Disorders - Outpatient clinic for DNA repair disorders

Department of Genetics
Erasmus Medical Center
P.O.Box 2040
3000 CA Rotterdam
THE NETHERLANDS
Prof. J.H.J. Hoeijmakers
Dr. Nicolaas G.J. Jaspers
n.jaspers@erasmusmc.nl
Cell Biology of DNA-repair disorders
Molecular analysis of DNA-repair disorders

Erasmus MC, Erasmus University Medical Center Rotterdam
P.O. Box 2040, 3000 CA Rotterdam, The Netherlands
Department of Clinical Genetics
Dr. Y. van Ierland, MD, PhD, Clinical Geneticist
E-mail: DNArepair@erasmusmc.nl
https://encore-expertisecentrum.nl/en/cases/dna-repair/

ENCORE Expertise Center for Neurodevelopmental Disorders - Outpatient clinic for DNA repair disorders
Molecular and functional diagnostics of DNA repair disorders

Department of Genetics
Erasmus Medical Center
P.O.Box 2040
3000 CA Rotterdam
THE NETHERLANDS
Prof. J.H.J. Hoeijmakers
Dr. Nicolaas G.J. Jaspers
n.jaspers@erasmusmc.nl
Research activities: DNA Repair, Transcription, Cancer, Ageing

Erasmus MC, Erasmus University Medical Center Rotterdam
P.O. Box 2040, 3000 CA Rotterdam, The Netherlands
Department of Molecular Genetics
Prof. Jan H.J. Hoeijmakers
Prof. Wim Vermeulen
Dr. A.F. Theil
a.theil@erasmusmc.nl
https://encore-expertisecentrum.nl/en/cases/dna-repair/

Molecular and functional analysis of DNA-repair disorders
Research activities: DNA Repair, Transcription, Cancer, Ageing

Genome Damage and Stability Centre
University of Sussex
Falmer
BN1 9RQ Brighton
UNITED KINGDOM
Prof. Alan R Lehmann
a.r.lehmann@sussex.ac.uk
Cell Biology of DNA-Repair Disorders

Stability Centre
University of Sussex
Falmer
BN1 9RQ Brighton
UNITED KINGDOM
Prof. Alan R Lehmann
a.r.lehmann@sussex.ac.uk