Lamellar Ichthyosis/non-Bullous Ichthyosiform Erythroderma - Specialized Centers

AUSTRIA
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Department of Dermatology
Innsbruck Medical University
Anichstraße 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
Lydia Stremnitzer
L.Stremnitzer@salk.at

Outpatient clinic for Keratinization Disorders

Salzburger Landeskliniken/Molecular Dermatology
Diagnostic Laboratory
Müllner Hauptstraße 48
5020 Salzburg
AUSTRIA
Mag. Alfred Klausegger
A.Klausegger@salk.at

Molecular diagnosis of Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma

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
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 Ichthyosis

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 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
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 Lamellar ichthyosis/Non-bullous
congenital ichthyosiform erythroderma

Molecular diagnosis of
Lamellar ichthyosis/Non-bullous
congenital ichthyosiform erythroderma

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: Lamellar
ichthyosis/non-bullous congenital
ichthyosiform erythroderma

Department of Genetics
Necker hospital for sick children
Inserm U781, Tour Lavoisier
Toulouse
75743 Paris cedex 15
FRANCE
Prof. Alain Hovnanian, M.D., Ph.D.
alain.hovnanian@inserm.fr

Research activities on:
Pathophysiology

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 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
University of Cologne
Kerpener Strasse 62
50937 Köln
GERMANY
Dr. Iliana Tantcheva-Poor
iliana.tantcheva-poor@uk-koeln.de

Outpatient clinic for genodermatoses or rare diseases

Department of Dermatology, University Hospital Giessen and Marburg, Division Marburg
Philipp University Marburg
Baldingerstrasse
35033 Marburg
GERMANY
Prof. Michael Hertl
Dr. Arne König
koeniga@med.uni-marburg.de

Outpatient clinic for Genodermatoses/rare diseases

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

Institute of Human Genetics
University Clinic of Freiburg
Breisacher Straße 33
79106 Freiburg
GERMANY
Prof. Dr. med. Dr. rer. nat. Judith Fischer judith.fischer@uniklinik-freiburg.de
Mutations 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 Lammellar ichthyosis/non-bullous congenital ichthyosiform erythroderma (TGM1, ABCA12, ALOX12B, ALOXE3, NIPAL4)

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

Division of Dermatogenetics, Cologne Center for Genomics
Institution University of Cologne
Weyertal 115b
50931 Köln
GERMANY
Dr. Hans Christian Hennies
hhennies@uni-koeln.de

Molecular analysis of Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma

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 Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma
Biochemical analysis of Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma

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

Institute of Human Genetics
University Clinic of Freiburg
Breisacher Straße 33
79106 Freiburg
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

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: Development of enzyme replacement therapy for TGase1 deficient lamellar ichthyosis
Project title: Biochemical characterization of TGM1 mutations in bathing suit ichthyosis
Project title: Immunohistochemical assessment of the skin (Netherton syndrome)

HUNGARY
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

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

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. Marta Medvecz
Dr. Krisztina Becker
Dr. Zsòfia Hatvani
karsar@bor.sote.hu

Histology/ Immunohistochemistry of Keratinization Disorders
Electron microscopy of Keratinization Disorders
Biochemical diagnosis of Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma
Molecular diagnosis of Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma

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

ITALY
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

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 and 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 Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma
Electron microscopy of Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma

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
MD 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 CENTERDIAGNOSTIC CENTERRESEARCH 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 CENTERDIAGNOSTIC CENTERRESEARCH 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

Laboratoire de biologie cutanée
Service de Dermatologie - CHUV/FBM
Hôpital de Beaumont, BT - 437
1011 Lausanne
SWITZERLAND
Prof. Daniel Hohl
Dr. Marcel Huber
marcel.huber@chuv.ch

Histology/ Immunohistochemistry of Keratinization Disorders
Electron microscopy of Keratinization Disorders
Biochemical diagnosis of Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma
Molecular diagnosis of Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma

Laboratoire de Biologie cutanée
Service de Dermatologie - CHUV/FBM
Hôpital de Beaumont, BT - 437
1011 Lausanne
SWITZERLAND
Prof. Daniel Hohl
Dr. Marcel Huber
marcel.huber@chuv.ch

Research activities on: Inducible organotypic model of Lamellar Ichthyosis

THE NETHERLANDS
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH 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 CENTERDIAGNOSTIC CENTERRESEARCH 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

Centre Cutaneous Research
Barts/London SMD/QMUL
4 Newark St
London E1 2AT
UNITED KINGDOM
Dr. Edel O'Toole
e.a.otoole@qmul.ac.uk

Outpatient clinic for Genodermatoses or rare diseases

Genetic Skin Disease Group
St John's Institute of Dermatology
St Thomas' Hospital Westminster Brdige 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

Molecular Genetics Laboratory East of Scotland Regional Genetic Service Ninewells Hospital Dundee DD1 9SY UNITED KINGDOM
David Baty, MD
Genetic testing for skin conditions

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

Histology/ Immunohistochemistry of Lamellar ichthyosis
Molecular analysis of Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma

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
Trish Dopping-Hepenstal
trish.dopping-hepenstal@gsts.com
Electron microscopy of Lamellar Ichthyosis/Non-bullous congenital ichthyosiform erythroderma
Molecular analysis of Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma