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

 

 

BELGIUM
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Center for Medical Genetics
Ghent University Hospital
De Pintelaan 185
Ghent
Belgium
9000
Prof. Anne De Paepe
anne.depaepe@ugent.be

Outpatient clinic for Cutis laxa
Outpatient clinic for Ehlers-Danlos syndrome (all variants)
Outpatient clinic for Pseudoxanthoma Elasticum
Outpatient clinic for genodermatoses or rare diseases (all except for Lipoid proteinosis)

Center for Medical Genetics
Ghent University Hospital
De Pintelaan 185
Ghent
Belgium
9000
Prof. Anne De Paepe
anne.depaepe@ugent.be

Biochemical diagnosis of Ehlers-Danlos syndrome, classic type
Biochemical diagnosis of Ehlers-Danlos syndrome, dermatosparaxis type
Biochemical diagnosis of Ehlers-Danlos syndrome, hypermobility type
Biochemical diagnosis of Ehlers-Danlos syndrome, kyphoscoliotic type
Biochemical diagnosis of Ehlers-Danlos syndrome, unclassified variants
Biochemical diagnosis of Ehlers-Danlos syndrome, vascular type
Molecular diagnosis of Cutis laxa, hereditary autosomal dominant and autosomal recessive variants
Molecular diagnosis of Ehlers-Danlos syndrome, classic type
Molecular diagnosis of Ehlers-Danlos syndrome, arthrochalasis type
Molecular diagnosis of Ehlers-Danlos syndrome, vascular type

Molecular diagnosis for Pseudoxanthoma Elasticum

Center for Medical Genetics
Ghent University Hospital
De Pintelaan 185
Ghent
Belgium
9000
Prof. Anne De Paepe
anne.depaepe@ugent.be

Project title: Unravelling the molecular -genetic basis of hereditary disorders of elastin (Cutis Laxa)
Project title: Unravelling the molecular -genetic basis of hereditary disorders of elastin (Pseudoxanthoma Elasticum)
Project title: Integration of the clinical, ultrastructural, biochemical and molecular-genetic findings in the Ehlers-Danlos syndrome and related phenotypes
 
Project title: Characterisation of the genetic defects and molecular pathways in heritable connective tissue disorders and cancer
Project title: Role of ABCC6, a transmembrane transporter in the liver, in connective tissue hoemostatsis with Pseudoxanthoma as sutdy model
Project title: Study of the biological mechanisms in heritable connective tissue diseases: the Ehlers-Danlos syndrome as paradigm

CZECH REPUBLIC
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Department of Pediatric Dermatology the 1st Pediatric Clinic
University Hospital Brno
Cernopolní 9
625 00 Brno
Czech Republic
Dr. Hana Buckova
hbuckov@fnbrno.cz

Outpatient clinic for pediatric dermatology (Cutis laxa, Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome, hypermobility type, and Pseudoxanthoma elasticum)

 

 

DENMARK
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

 

Center for applied Human Molecular Genetics Kennedy Center
Gl. Landevej 7
Glostrup
Denmark
DK-2600
Dr. Lisbeth Birk Moller 
lbm@kennedy.dk
or labcontact@kennedy.dk 
Molecular diagnosis of Cutis laxa, hereditary

 

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
Bordeaux
France
33076 cedex
Prof. Alain Taïeb
alain.taieb@chu-bordeaux.fr

Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric dermatology

Necker hospital for sick children
Departments of Genetics
INSERM U789, Tour Lavoisier, 3rd floor
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 (for Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome, hypermobility type, Ehlers-Danlos syndrome, unclassified variants, Ehlers-Danlos syndrome, vascular type, and Pseudoxanthoma Elasticum)

MAGEC centre, Dermatology department
Necker Enfants Malades Hospital, Assistance Publique
149 rue de Sèvres
Paris
75015 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
lacour@unice.fr

Outpatient clinic for Pediatric dermatology

MAGEC centre, Dermatology department
Necker Enfants Malades Hospital, Assistance Publique,
149 rue de Sèvres
Paris
France
75015
Prof. Christine Bodemer
Christine.Bodemer@nck.aphp.fr
Histology/Immunohistochemistry of Cutis laxa, hereditary
Histology/Immunohistochemistry of Ehlers-Danlos syndrome, arthrochalasis type
Histology/Immunohistochemistry of Ehlers-Danlos syndrome, classic type
Histology/Immunohistochemistry of Ehlers-Danlos syndrome, dermatosparaxis type
Histology/Immunohistochemistry of Ehlers-Danlos syndrome, hypermobility type
Histology/Immunohistochemistry of Ehlers-Danlos syndrome, kyphoscoliotic type
Histology/Immunohistochemistry of Ehlers-Danlos syndrome, unclassified variants
Histology/Immunohistochemistry of Ehlers-Danlos syndrome, vascular type
Electron microscopy of Cutis laxa, hereditary
Electron microscopy of Ehlers-Danlos syndrome, arthrochalasis type
Electron microscopy of Ehlers-Danlos syndrome, classic type
Electron microscopy of Ehlers-Danlos syndrome, dermatosparaxis type
Electron microscopy of Ehlers-Danlos syndrome, hypermobility type
Electron microscopy of Ehlers-Danlos syndrome, kyphoscoliotic type
Electron microscopy of Ehlers-Danlos syndrome, unclassified variants
Electron microscopy of Ehlers-Danlos syndrome, vascular type

Dermatologic Diseases
Centre National de Génotypage
2 rue Gaston Crémieux
91057 Evry
France
Prof. Mark Lathrop
project-manager@cng.fr
Research activities on: Cutis laxa, hereditary

MAGEC centre, Dermatology department
Necker Enfants Malades Hospital, Assistance Publique
149 rue de Sèvres 
Paris
France
75015
Prof. Christine Bodemer
Christine.Bodemer@nck.aphp.fr

GERMANY
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Center for Human Genetics Freiburg
Heinrich-von-Stephan-Str. 5
Freiburg
79100 Germany
Prof. Dr. Jürgen Kohlhase, MD 
jkohlhase@humangenetik-freiburg.de
 
Outpatient clinic for Genodermatoses or rare diseases (Ehlers-Danlos syndrome, classic and vascular types)

Department of Dermatology
University of Cologne
Kerpener Strasse 62
50931 Köln
Germany
Meral Arin
meral.arin@uk-koeln.de

Outpatient clinic for genodermatoses or rare diseases (Ehlers-Danlos, all types, and Pseudoxanthoma Elasticum)

Department of Dermatology, Venerology and Allergy
Charitéplatz 1
Berlin
10117 Germany
Prof. Ulrike Blume-Peytavi
Dr. Karola Stieler 
karola.stieler@charite.de
 
Outpatient clinic for Connective Tissue Disorders
Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric Dermatology

Department of Dermatology 
Ludwig-Maximilian University Munich
Frauenlobstr. 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

Center for Human Genetics Freiburg
Heinrich-von-Stephan-Str. 5
Freiburg
Germany
79100
Prof. Dr. Jürgen Kohlhase, MD 
jkohlhase@humangenetik-freiburg.de
 
Molecular diagnosis of Ehlers-Danlos syndrome, classic type
Molecular diagnosis of Ehlers-Danlos syndrome, vascular type

Center for Human Genetics and Laboratory Medicine
Lochhamer Str. 29
82152 Martinsried
Germany
Dr. Hanns-Georg Klein
Dr. Karin Mayer
Karin.Mayer@medizinische-genetik.de

Molecular analysis of Ehlers-Danlos syndrome, (arthrochalasis type, vascular type, classic,type, hypermobility type, with tenascinX deficiency, kyphoscoliotic type VIA, musculocontractural type)

DIAGENOS
Center for Medical Genetics
Caprivistr. 30
Osnabrueck
Germany
49076
Dr. Heinz Gabriel 
h.gabriel@diagenos.com
 
Molecular diagnosis of Ehlers-Danlos syndrome, Molecular diagnosis of Cutis laxa, hereditary 

EM-Labor
Universitats-Hautklinik
Vossstr. 2
Heidelberg
Germany
69115
Dr. Ingrid Hausser
Ingrid.Hausser@med.uni-heidelberg.de

Electron microscopy of Connective Tissue Disorders

Institute of Human Genetics
University Clinic of Freiburg
Breisacher Str. 33
Freiburg
Germany
79106
Prof. Dr. med. Dr. rer. nat. Judith Fischer
judith.fischer@uniklinik-freiburg.de
Cutis laxa, hereditary Elastogenesis and metabolism

Center for Human Genetics and Laboratory Medicine
Lochhamer Str. 29
D-82152 Martinsried
Germany
Dr. Hanns-Georg Klein
Dr. Karin Mayer
Karin.Mayer@medizinische-genetik.de

Project title: Improvement of the molecular diagnostics in EDS Type I/II by screening further collagen and collagen modifying genes
Project title: Improvement of the molecular diagnostics in EDS Type III by biochemical and molecular genetic testing of TenascinX and screening further collagen and collagen modifying genes

Physiological Psychology
Bielefeld University
Postfach 10 01 31
33501 Bielefeld
Germany
Prof. Hans J. Markowitsch
hans.markowitsch@uni-bielefeld.de

Project title: Emotion, cognition and functional imaging in patients with Urbach-Wiethe disease (Lipoid proteinosis)  

Institute of Human Genetics
University Clinic of Freiburg
Breisacher Str. 33
Freiburg
Germany
79106
Prof. Dr. med. Dr. rer. nat. Judith Fischer
judith.fischer@uniklinik-freiburg.de
Cutis laxa, hereditary Elastogenesis and metabolism

HUNGARY
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Dept. of Dermatology, Venerology and Dermatooncology
Semmelweis University
Mária str. 41
Budapest
H-1085 Hungary
Prof. Sarolta Kárpáti
Dr. Marta Medvecz
Dr. Krisztina Becker
Dr. Zsòfia Hatvani 
karsar@bor.sote.hu
 
Outpatient clinic for Genodermatoses or rare diseases (Cutis laxa and Pseudoxanthoma elasticum)
Outpatient clinic for Pediatric Dermatology (Cutis laxa and Pseudoxanthoma elasticum)

Department of Dermatology, Venerology and Dermatooncology
Semmelweis University
Mária str. 41
Budapest
Hungary
H-1085
Prof. Sarolta Kárpáti
Dr. Marta Medvecz
Dr. Krisztina Becker
Dr. Zsòfia Hatvani 
karsar@bor.sote.hu
 
Histology/Immunohistochemistry of Connective tissue disorders
Electron microscopy of Connective tissue disorders
Molecular diagnosis of Pseudoxanthoma elasticum

Department of Dermatology, Venerology and Dermatooncology
Semmelweis University
Mária str. 41
Budapest
Hungary
H-1085
Prof. Sarolta Kárpáti
Dr. Marta Medvezt
Dr. Krisztina Becker
Dr. Zsòfia Hatvani 
karsar@bor.sote.hu
 
Project title: Genotype-phenotype correlation analysis in Hungarian cases of genodermatoses (Pseudoxanthoma elasticum)
Project title: Improving methodics of mutation analysis and prenatal diagnostics in genodermatoses (Pseudoxanthoma elasticum)
 

IRELAND
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Department of Dermatology
Our Lady's Children's Hospital
Crumlin
Dublin 12
Ireland
Professor Alan Irvine
airvine.sec@olchc.ie

Outpatient clinic for Pediatric dermatology

 

 

ITALY
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

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

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

Department of Specialistic and Experimental Clinical Medicine, Division of Dermatology
University of Bologna
via Massarenti 1
Bologna
40138 Italy
Prof. Annalisa Patrizi
Dr. Iria Neri 
irianeri@aosp.bo.it
 
Outpatient clinic for Genodermatoses or rare diseases (Cutis laxa, Ehlers-Danlos classic type, Pseudoxanthoma elasticum)

Dipartimento Medicina Interna e Specialità Mediche - Dermatologia
Arcispedale Santa Maria Nuova di Reggio Emilia
Viale Risorgimento, 80
42100 Reggio Emilia
Italy
Dr. Giuseppe Alberini
Dr. Vito Di Lernia
dilernia.vito@asmn.re.it

Outpatient clinic for Pediatric dermatology (all Ehlers-Danlos syndromes, all variants)

Dipartimento di scienze dermatologiche
Via della Pergola, 58
Florence
50121 Italy
Prof. Paolo Fabbri 
fabbri@unifi.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 (for Ehlers-Danlos syndrome, all variants)

Unità Operativa Semplice di Genetica Clinica
Diparimento Ostetrico-Genecologico 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 (Cutis laxa and Ehlers-Danlos syndrome, all variants)

U.O.C. Angiologia - ASL Bologna
Via Mengoli, 32
40138 Bologna
Italy
Dr. Gaetano Scondotto
Dr. Alberto Martignani
alberto.martignani@ausl.bologna.it

Vascular medicine clinic for pseudoxanthoma elasticum

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

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

Histology/Immunohistochemistry of Connective tissue disorders
Electron microscopy of Connective tissue disorders

Department of Biomedical Sciences
University of Modena and Reggio Emilia
Via Campi 287
Modena
Italy
41100
Prof. Daniela Quaglino
daniela.quaglino@unimore.it

Molecular diagnosis of Pseudoxanthoma elasticum
Histology/Immunohistochemistry of Pseudoxanthoma Elasticum
Electron microscopy of Pseudoxanthoma Elasticum Electron microscopy of elastic fiber disorders

Department of Biomedical Sciences and Biotechnology, Division of Biology and Genetics
University of Brescia
Via Europa 11
25123 Brescia
Italy
Prof. Marina Colombi
colombi@med.unibs.it

Molecular analysis of Ehlers-Danlos syndrome (arthrochalasis type, classic type, dermatosparaxis type, kyphoscoliotic type, vascular type, cardiovasular type, arthrochalasis type, progeroid type)
Molecular analysis of Loeys-Dietz syndrome Molecular analysis of Arterial tortuosity syndrome

Molecular analysis of Marfan syndrome
Molecural analysis of Pseudoxanthoma elasticum
Clinical diagnos of patients

Department of Specialistic and Experimental Clinical Medicine
Division of Clinical Dermatology
University of Bologna
via Massarenti 1
Bologna
40138 Italy
Prof. Claudio Varotti
Dr. Beatrice Passarini 
beatrice.passarini@unibo.it
 
Histology/Immunohistochemistry of Cutis laxa, hereditary
Histology/Immunohistochemistry of Ehlers-Danlos syndrome, classic type
Histology/Immunohistochemistry of Pseudoxanthoma elasticum
Electron microscopy of Cutis laxa, hereditary
Electron microscopy of Pseudoxanthoma elasticum

Dipartimento Medicina Interna e Specialità Mediche - Dermatologia
Arcispedale Santa Maria Nuova di Reggio Emilia
Viale Risorgimento, 80
42100 Reggio Emilia
Italy
Dr. Giuseppe Alberini
Dr. Vito Di Lernia
dilernia.vito@asmn.re.it

Histology/Immunohistochemistry of Ehlers Danlos syndrome (all variants)

Dipartimento di scienze dermatologiche
Via della Pergola, 58
Florence
50121 Italy
Prof. Paolo Fabbri 
fabbri@unifi.it 
Histology/Immunohistochemistry diagnosis of Pseudoxanthoma elasticum

Laboratory of Molecular and Cell Biology
Istituto Dermopatico dell'Immacolata, IDI-IRCCS
Via Monti di Creta 104
Rome
Italy
00167
Prof. Giovanna Zambruno
Dr. Daniele Castiglia
d.castiglia@idi.it

Histology/Immunohistochemistry of Connective tissue disorders
Electron microscopy of Connective tissue disorders

Department of Biomedical Sciences
University of Modena and Reggio Emilia
Via Campi 287
Modena
Italy
41100
Prof. Daniela Quaglino
daniela.quaglino@unimore.it

Research activities on: pathogenesis of elastic fiber calcification in PXE

Department of Biomedical Sciences and Biotechnology, Division of Biology and Genetics
University of Brescia
Via Europa 11
25123 Brescia
Italy
Prof. Marina Colombi
colombi@med.unibs.it

Project title: Identification of cellular markers for all types of Ehlers-Danlos syndrome
Project title: Study of the cellular behaviour of Ehlers-Danlos skin fibroblasts, i.e., cell adhesion, migration
Project title: Study of the extracellular matrix defects of Ehlers-Danlos skin fibroblasts and molecular approaches for their in vitro correction
Project title: Characterisation of the signal transduction pathways involved in extracellular matricx defective Ehlers-Danlos skin fibroblasts survival
Project title: Study of the extracellular matrix organization in cells derived from arterial tortuosity syndrome and Loeys-Dietz syndrome patients in order to define the molecular mechanisms at the basis of these disorders

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

Division of Human Genetics / Dept. of Paediatrics
Inselspital/University of Bern
Freiburgstrasse
Bern
Switzerland
CH-3010
Prof. Sabina Gallati
Dr. Franziska Joncourt 
franziska.joncourt@insel.ch
 
Molecular diagnosis of Cutis laxa, hereditar

 

THE NETHERLANDS
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Department of Dermatology
University Medical Centre Groningen
Hanzeplein 1
Groningen
the Netherlands
9700 RB
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 Division of Genetics and Molecular Medicine
St John's Institute of Dermatology St Thomas' Hospital
Westminster Bridge Road
London SE1 7EH
UK
Trish Dopping-Hepenstal
trish.dopping-hepenstal@gsts.com

Electron microscopy of Lipoid proteinosis
Molecular analysis of Lipoid proteinosis