Connective Tissue - Specialized Centers

Connective Tissue - Specialized Centers

AUSTRIA
CLINICAL CENTER	DIAGNOSTIC CENTER	RESEARCH 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 CENTER	DIAGNOSTIC CENTER	RESEARCH 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 CENTER	DIAGNOSTIC CENTER	RESEARCH 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 CENTER	DIAGNOSTIC CENTER	RESEARCH 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 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 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 CENTER	DIAGNOSTIC CENTER	RESEARCH 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 CENTER	DIAGNOSTIC CENTER	RESEARCH 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 CENTER	DIAGNOSTIC CENTER	RESEARCH 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 CENTER	DIAGNOSTIC CENTER	RESEARCH 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 CENTER	DIAGNOSTIC CENTER	RESEARCH 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 CENTER	DIAGNOSTIC CENTER	RESEARCH 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 CENTER	DIAGNOSTIC CENTER	RESEARCH 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

European Dermatology Forum