Universitätsklinik für Dermatologie
Salzburger Landeskliniken
Universtätsklinikum der Paracelsus Med. Privatuniversität
Muellner Hauptstraße 48
5020 Salzburg
AUSTRIA
Pr Johann Bauer
Outpatient clinic for genodermatoses

Neugeborenenscreening-und Stoffwechsellabor
Universitätsklinik für Kinder-und Jugendheilkunde
Medizinische Universität Wien
Währinger Gürtel 18-20
1090 Wien
AUSTRIA
Pr David KASPER
david.kasper@meduniwien.ac.at
Biochemical diagnosis of inborn errors of metabolism (including Austrian newborn screening program for inborn errors of metabolism)

Medical Centre Unique
Bulgarian Association for Promotion of Education and Science (BAPES)
Medical Center 'UNIQUE'
Dimitar Talev 76
4000 Plovdiv
BULGARIA
Pr Ivan ST IVANOV
ivanovist@gmail.com
Medical Center UNIQUE

Medical Centre Rare dis Ltd
Medical Centre Rare dis
Landos 24
4000 Plovdiv
BULGARIA
Dr Radostina Simeonova
Medical Center Rare Dis

University Hospital Plovdiv-UMHATS v.Georgi-EAD
15A Vasil Aprilov Boulevard
4001 Plovdiv
BULGARIA
Dr Miroslava Bosheva, Pr Ivan St Ivanov
Clinic of pediatrics and genetic 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 Clinical Genetics
Rigshospitalet
Blegdamsvej9
2100 Copenhagen
DENMARK
Pr Flemming Skovby
Centre of reference for rare disabilities –KSH

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

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

Clinical Research Center for Hair and Skin Science
Klinik für Dermatologie und Allergologie
Charité-Universitätsmedizin Berlin (CCM)
Charitéplatz 1
10117 Berlin
GERMANY
Pr Ulrike Blume-Peytavi

FZSE-Freiburg Zentrum für Seltene Erkrankungen
Universitätsklinikum Freiburg
Mathildenstr.1
79106 Freiburg
GERMANY
PrLeena Bruckner-Tuderman

Zentrum für Seltene Erkrankungen (ZSE) HeidelbergUniversitätsklinikum HeidelbergIm Neuenheimer Feld 153 69120 Heidelberg GERMANY Pr Georg F. Hoffmann georg.hoffmann@meduni-heidelberg.de

Klinik für Dermatologie und Allergologie
Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
Baldingerstraße
35043 Marburg
GERMANY
Pr Arne König

Interdisziplinäres Zentrum für genetische und seltene Hautkrankheiten
Klinik und Poliklinik für Dermatologie und Allergologie
Ludwig-Maximilians-Universität München
Frauenlobstraße 9-11
80337 München
GERMANY
Pr Markus Braun-Falco, Dr Kathrin Giehl

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

Institut für Humangenetik
Biomedizinisches Zentrum
Universitätsklinikum Bonn
Sigmund-Freud-Str.25
53105 Bonn
GERMANY
Pr Markus Nöthen
markus.noethen@uni-bonn.de
Molecular diagnosis of KRT5 gene associated hyperpigmentation anomalies

Pediatricdermatology
SemmelweisUniversity
Mariau .41
1085 Budapest
HUNGARY
Dr Marta Csikos, Dr Maria Katona
Multidisciplinary clinic for genodermatoses, epidermolysis bullosa and ichthyosis

Frambu
Frambu senter for sjeldne funksjonshemninger
Sandbakkveien18
1404 Siggerud
NORWAY
Ms Tove Wangensteen
Frambu resource centre for rare 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 diseases

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 Malattie Cutanee Ereditarie U.O.S.Dermatologia Pediatrica-Dipartimento di Medicina Internae Specializzazioni Mediche IRCCS Ospedale Maggiore Via Pace 9 20122 Milano ITALY Pr Carlo Gelmetti carlo.gelmetti@unimi.it Centre of Expertise for rare skin 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
Centre of Expertise for pigmentation anomaly of the skin

Centro Clinico per le genodermatosi
Dipartimento di Dermatologia Clinica
Istituto Dermopatico dell'Immacolata-IRCCS
Via dei Monti di Creta 104
00167 Roma
ITALY
Dr Corrado Angelo
Rare skin diseases specialised clinic

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

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: Cockayne syndrome

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

Afdeling Dermatologie
AZM-Academisch Ziekenhuis Maastricht
P. Debyelaan25
6229 HX Maastricht
THE NETHERLANDS
Pr M.A.M.[Maurice]VANSTEENSEL
Genodermatoses Clinic disease

Department of Dermatology
Birmingham Children's Hospital
Steelhouse Lane
Birmingham B46NH
UNITED KINGDOM
Pr Celia Moss
celia.moss@bch.nhs.uk
Rare genetic skin disorders and tertiary dermatology clinic

Manchester Regional Genetics Service, Genetic Medicine, 6thFloor
Central Manchester University Hospitals NHS FoundationTrust
St Mary's Hospital
Oxford Road
Manchester M139WL
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