AEC Syndrome - Specialized Centers

AUSTRIA
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

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

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, 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);

FRANCE
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Department of Dermatology
University hospital
1 pl alexis Ricordeau
44093 Nantes
FRANCE
Prof. JF Stalder
Dr. Sébastien Barbarot
sebastien.barbarot@chu-nantes.fr
Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric dermatology


Department of Dermatology and Pediatric Dermatology, National reference centre for rare skin diseases
CHU de Bordeaux
Hôpital Pellegrin Enfants, Place Amélie Raba Léon
33076 cedex, Bordeaux
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

GERMANY
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

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 Ectodermal Dysplasias
Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric Dermatology


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 Pediatric Dermatology


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

Institute of Medical Genetics
Charité - Universitätsmedizin Berlin
Austenburger Platz 1
13353 Berlin
GERMANY
Prof. Stefan Mundlos
Dr. Hartmut Peters
hartmut.peters@charite.de

Molecular diagnosis of Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC syndrome)

Center for Human Genetics Freiburg
Heinrich-von-Stephan-Str. 5
79100 Freiburg
GERMANY
Prof. Jürgen Kohlhase, MD
jkohlhase@humangenetik-freiburg.de

Molecular diagnosis of Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC syndrome)

Center for Human Genetics Regensburg
Universitätsklinikum, D3
Franz-Josef-Strauss-Allee 11
93053 Regensburg
GERMANY
Dr. Ute Hehr
ute.hehr@humangenetik-regensburg.de

Molecular analysis of Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC syndrome)

IRELAND
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

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

ITALY
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

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

ARS RADIOLOGICA s.r.l.
Piazza N. Sauro, 6
73049 Ruffano (Lecce)
ITALY
Dr. Alessandro Castriota Scanderbeg
scanderbeg@arsradiologica.it

Radiologic diagnosis of genetic 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
Arcispedale Santa Maria Nuova di Reggio Emilia
Viale Risorgimento, 80
42100 Reggio Emilia
ITALY
Dr.ssa Livia Garavelli
garavelli.livia@asmn.re.it
Outpatient clinic for Genodermatoses or rare diseases

Medical Genetic Unit
Bambino Gesù Children's Hospital
Piazza S. Onofrio, 4
00165 Rome
ITALY
Dr. Maria Cristina Digilio
digilio@opbg.net
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


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 Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC syndrome)

CEINGE Biotecnologie Avanzate SCarl (Center for Genetic Engineering)
via Comunale Margherita 482
80145 Naples
ITALY
Dr. Caterina Missero
missero@ceinge.unina.it

Molecular analysis of Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC syndrome)

CEINGE Biotecnologie Avanzate SCarl (Center for Genetic Engineering)
via Comunale Margherita 482
80145 Naples
ITALY
Dr. Caterina Missero
missero@ceinge.unina.it

Project title: Pathogenetic mechanisms underlying the AEC syndrome: generation of mouse models and characterization of target genes


Department of Structural and Functional Biology
Molecular Genetics
University of Naples "Federico II"
via Cinzia, 26
80126 Naples
ITALY
Prof. Girolama La Mantia
lamantia@unina.it

Project title: a molecular and functional study on p63 mutant proteinsoccurring in EEC, AEC and other human hereditary ectodermal syndromes

SPAIN
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Department of Medical Genetics
Fundacion Jimenez Diaz
Av / Reyes catolicos nº 2
28040 Madrid
SPAIN
Dr. Carmen Ayuso
Dr. Isabel Lorda
ilorda@fjd.es
Outpatient clinic for Genodermatoses or rare diseases

SWITZERLAND
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Service de Dermatologie et Vénéréologie
CHUV / FBM - UNIL
Hôpital de Beaumont
1011 Lausanne
SUISSE
Prof. Daniel Hohl
Sophie Mercier
Sophie.Mercier@chuv.ch
Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric dermatology

THE NETHERLANDS
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

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

UNITED KINGDOM
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Genetic Skin Disease Group
St John's Institute of Dermatology
St Thomas' Hospital Westminster Bridge Road
London SE1 7EH
UNITED KINGDOM
Prof. John McGrath
Dr. Jemima Mellerio
jemima.mellerio@kcl.ac.uk
Outpatient clinic for genodermatoses or rare diseases
Outpatient clinic for pediatric dermatology

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
UNITED KINGDOM
Prof. John McGrath
Dr. Suzanne Clements
Suz_clements@hotmail.com
Molecular analysis of Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC 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
UNITED KINGDOM
Prof. John McGrath
john.mcgrath@kcl.ac.uk
Research activities on: Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC syndrome)