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Harlequin Type Ichthyosis Congenita - Specialized Centers

CZECH REPUBLIC
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH 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 CENTER DIAGNOSTIC CENTER RESEARCH CENTER

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 Pediatric dermatology

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

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

Dermatologic Diseases
Centre National de Génotypage
2 rue Gaston Crémieux
91057 Evry
FRANCE
Prof. Mark Lathrop
project-manager@cng.fr
Research activities on: Harlequin type ichthyosis congenita

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
Research activities on: Pathophysiology and Treatment

GERMANY
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH 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 Keratinization 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 Keratinization Disorders
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 Human Genetics
University Clinic of Freiburg
Freiburg Breisacher Straße 33
79106 Freiburg i.Br.
GERMANY
Prof. Dr. med. Dr. rer. nat. Judith Fischer
judith.fischer@uniklinik-freiburg.de
Mutation diagnosis for all ARCI genes, and other genes involved in genodermatoses

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 Harlequin type ichthyosis snydrome (ABCA12)

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
PD Dr. Vinzenz Oji
Vinzenz.oji@ukmuenster.de

Institute for Human Genetics
University Clinic of Freiburg
Freiburg Breisacher Straße 33
79106 Freiburg i.Br.
GERMANY
Prof. Dr. med. Dr. rer. nat. Judith Fischer judith.fischer@uniklinik-freiburg.de

Division of Dermatogenetics, Cologne Center for Genomics
University of Cologne
Weyertal 115b
50931 Köln
GERMANY
Dr. Hans Christian Hennies
hhennies@uni-koeln.de
Project title: Identification and characterization of genes for autosomal recessive congenital ichthyosis
Project title: Diagnosis, characterization, and prevention of autosomal recessive congenital ichthyosis
Project title: Molecular and functional analysis of epidermal lipoxygenases
Project title: Role of epidermal lipoxygenases for the barrier function of the skin - congenital ichthyosis as a model disease

 

HUNGARY
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER

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

   
IRELAND
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER

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

   
ITALY
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER

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
Florence
50121 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 and rare diseases

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

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

 
SWEDEN
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER

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

   
SWITZERLAND
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER

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

   
THE NETHERLANDS
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER

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

   
UNITED KINGDOM
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER

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

Centre for Cutaneous Research
Institute of Cell and Molecular Science, Queen Mary, University of London
4 Newark Street, Whitechapel
London
UNITED KINGDOM
E1 4AT
Prof. David Kelsell
d.p.kelsell@qmul.ac.uk
Molecular analysis of Harlequin type ichthyosis congenita