Connective Tissue - Specialized Centers

AUSTRIA
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER

Department of Dermatology, Venereology and Allergology
Medical University of Innsbruck
Anichstraße 35
6020 Innsbruck
Austria
Prof. Dr. Matthias Schmuth
Priv.-Doz. Dr. Robert Gruber

robert.gruber@tirol-kliniken.at
Outpatient clinic for Genodermatoses or rare diseases

 

 

BELGIUM
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER
Center for Medical Genetics
Ghent University Hospital
C. Heymanslaan 10
9000 Ghent
Belgium
Clinical service:
Outpatient clinic for Cutis laxa:
Prof. Dr. Bert Callewaert
Bert.Callewaert@Ugent.be
Outpatient clinic for Ehlers-Danlos syndrome (all variants):
Prof. Dr. Fransiska Malfait
Fransiska.Malfait@Ugent.be
Prof. Dr. Bert Callewaert
Bert.Callewaert@Ugent.be
Outpatient clinic for Pseudoxanthoma Elasticum:
Prof. Dr. Olivier Vanakker
Olivier.Vanakker@Ugent.be
Outpatient clinic for arterial tortuosity syndrome/aortic aneurysm syndromes:
Prof. Dr. Bert Callewaert
Bert.Callewaert@Ugent.be
Prof. Dr. Julie De Backer
Julie.DeBacker@Ugent.be
Center for Medical Genetics
Ghent University Hospital
C. Heymanslaan 10
9000 Ghent
Belgium
Molecular diagnosis:
Molecular diagnosis of Ehlers-Danlos syndrome, all types:
Paul.Coucke@Ugent.be
Sofie.Symoens@Ugent.be Fransiska.Malfait@Ugent.be
Molecular diagnosis of Cutis laxa, all types: and geroderma osteodysplasticum:
Paul.Coucke@Ugent.be
Bert.Callewaert@Ugent.be
Molecular diagnosis for Pseudoxanthoma Elasticum:
Paul.Coucke@Ugent.be
Olivier.Vanakker@Ugent.be
Molecular diagnosis of arterial tortuosity syndrome and arterial aneurysm syndromes:
Paul.Coucke@Ugent.be

 

Center for Medical Genetics
Ghent University Hospital
C. Heymanslaan 10
9000 Ghent
Belgium
Research:
Project title: Clinical, biochemical, ultrastructural characterization in cutis laxa. Unraveling of the molecular causes and disease mechanisms in cutis laxa.
Bert.Callewaert@Ugent.be
Project title:
Clinical characterization, molecular causes and disease mechanisms in arterial tortuosity syndrome:
Project title:
Unravelling the molecular -genetic basis of hereditary disorders of Pseudoxanthoma Elasticum:
Olivier.Vanakker@Ugent.be
Project title: Integration of the clinical, ultrastructural, biochemical and molecular-genetic findings in the Ehlers-Danlos syndrome:
Project title: Clinical characterization, molecular causes and disease mechanisms in hereditable disorders of the thoracic aorta
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 Buckova Assist. Prof., MD., Ph.D.
buckova.hana@fnbrno.cz
Blanka Pinková MD
pinkova.blanka@fnbrno.cz
Jana Kýrová MD., Ing.
jana.kyrova@email.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.
fajkusova.lenka@fnbrno.cz
Lenka Kopecková, Ph.D.
kopeckova.lenka@fnbrno.cz
Romana Borská, Mgr.
borska.romana@fnbrno.cz
Molecular diagnosis of Genodermatoses and 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.
fajkusova.lenka@fnbrno.cz
Lenka Kopecková, Ph.D.
kopeckova.lenka@fnbrno.cz
Romana Borská, Mgr.
borska.romana@fnbrno.cz
Molecular diagnosis of Genodermatoses and rare diseases
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
Dr. Fanny Morice-Picard
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
Centre de Référence Maladies Rares de la Peau et des Muqueuses d’Origine Génétique - Sud
Hôpital Archet 2
CS 23079
06202 Nice Cedex
France
Dr. Christine Chiaverini
chiaverini.c@chu-nice.fr CRMRP-sud@chu-nice.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
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
SYNLAB MVZ Humangenetik Freiburg GmbH
Heinrich-von-Stephan-Str. 5
Freiburg
79100 Germany
Prof. Dr. Jürgen Kohlhase, MD
juergen.kohlhase@synlab.com
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

 

Center for Rare and Genetic Skin Diseases
Department of Dermatology
Ludwig-Maximilian University Munich
Hauptstraße 7
80337 Munich
Germany
Prof. Dr. med. Kathrin Giehl
Outpatient clinic for genodermatoses and rare skin diseases
Outpatient clinic for Pediatric Dermatology

Center for Human Genetics Freiburg
SYNLAB MVZ Humangenetik Freiburg GmbH
Heinrich-von-Stephan-Str. 5
Freiburg
79100 Germany
Prof. Dr. Jürgen Kohlhase, MD
Molecular diagnosis of Ehlers-Danlos syndrome, classic type
Molecular diagnosis of Ehlers-Danlos syndrome, vascular type
 
 
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

 

Center for Human Genetics and Laboratory Diagnostics
MVZ Martinsried GmbH
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

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 Diagnostics
MVZ Martinsried GmbH
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
Piazzale Spedali Civili 1
25123 Brescia
ITALY
Prof. Piergiacomo Calzavara Pinton
Prof. Marina Venturini
Prof. Marina Colombi

Outpatient clinic for heritable connective tissue disorders with cutaneous involvement, Epithelial adhesion disorders, Keratinization Disorders

 
Foundation IRCCS-Casa Sollievo della Sofferenza
Viale Cappuccini 1
71013 San Giovanni Rotondo (Foggia), Italy
Marco Castori, MD, PhD
Clinical center for Ehlers-Danlos syndromes, Cutis laxa syndromes, pseudoxanthoma elasticum & TP63-related disorders

 

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

Unit of Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna,
via Massarenti 1
Bologna
40138 Italy
Prof. Annalisa Patrizi
Dr. Iria Neri 
iria.neri@aosp.bo.it 
Outpatient clinic for Genodermatoses or rare diseases 
(Autoimmune polyendocrinopathy-candiasis-ectodermal dystrophy syndrome, Cleft lip/palate-ectodermal dysplasia syndrome, Clouston syndrome, Dyskeratosis congenita, Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome, Focal dermal hypoplasia syndrome, Incontinentia pigmenti, Orofaciodigital syndrome type I, Rapp-Hodgkin syndrome, Rothmund-Thomson syndrome, Trichodental dysplasia, Epidermolysis bullosa, Ichthyosis, Vascular anomalies and others)

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

I Division of Dermatology
Istituto Dermopatico dell'Immacolata, IDI-IRCCS
Via dei Monti di Creta 104
00167 Rome
Italy
Dr. Biagio Didona

b.didona@idi.it
Center for Rare Diseases
Dermatology Unit
Responsible: Dr May El Hachem
Dipartimento Pediatrico Universitario Ospedaliero
Ospedale Pediatrico Bambino Gesù, IRCCS
Piazza S. Onofrio 4
00165 Roma
ITALY
Dr May El Hachem (chief Unit of Dermatology)
Dr Andrea Diociaiuti
Managing multidisciplinary approaches for genodermatoses and rare disorders (e.g.Epidermolysis bullosa, Ichthyosis, Incontinentia Pigmenti, ectodermal dysplasia, Ehlers-Danlos, palmo-plantar keratoderma) and for Vascular anomalies. 
Immunofluorescence antigen mapping and electron microscopy for all disorders, if required
Pathology Unit
Responsible: Prof. Rita Alaggio Molecular testing for all the previous disorders in our laboratory of Genetic Medicine
Director: Dr Antonio Novelli
Division of Biology and Genetics
University of Brescia
Via Europa 11
25123 Brescia
ITALY
Prof. Marina Colombi
Prof. Nicoletta Zoppi
Prof. Marina Venturini
Dr. Marco Ritelli
Dr. Nicola Chiarelli
Molecular analysis of hereditary Cutis laxa
Molecular analysis of Pseudoxantoma elasticum
Molecular analysis of Ehlers-Danlos syndrome, classical
Molecular analysis of Ehlers-Danlos syndrome, vascular
Molecular analysis of Ehlers-Danlos syndrome kyphoscoliotic
Molecular analysis of Ehlers-Danlos syndrome, arthrochalasis
Molecular analysis of Ehlers-Danlos syndrome, dermatosparaxis
Molecular analysis of Ehlers-Danlos syndrome, rare variants
Molecular analysis of arterial tortuosity syndrome
Molecular analysis of Epidermolysis bullosa dystrophic, dominant and recessive
 
Foundation IRCCS-Casa Sollievo della Sofferenza
Viale Cappuccini 1
71013 San Giovanni Rotondo (Foggia), Italy
Marco Castori, MD, PhD
Clinical center for Ehlers-Danlos syndromes, Cutis laxa syndromes, pseudoxanthoma elasticum & TP63-related disorders

 

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 Life 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

Unit of Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna,
via Massarenti 1, Bologna 
40138 Italy
Laboratorio di Istopatologia
Dr. Cosimo Misciali 
cosimo.misciali@unibo.it 
Histology/ Immunohistochemistry of Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC syndrome),Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED),Cleft lip/palate-ectodermal dysplasia syndrome, Clouston syndrome, Dyskeratosis congenita, Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (EEC syndrome), Focal dermal hypoplasia syndrome, Hypohidrotic ectodermal displasia, Incontinentia pigmenti, Orofaciodigital syndrome type I, Rapp-Hodgkin syndrome, Rothmund-Thomson syndrome, Trichodental syndrome
 

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 Molecular and Translational Medicine, Division of Biology and Genetics
University of Brescia
Via Europa 11
25123 Brescia
ITALY
Prof. Marina Colombi
Prof. Nicoletta Zoppi
Dr. Marco Ritelli
Dr. Nicola Chiarelli
Research titles: Genomic, Transcriptomic and Proteomic studies on hypermobile Ehlers-Danlos syndrome and Hypermobility Spectrum Disorders
Study of the pathogenetic mechanisms involved in classical, vascular and hypermobile Ehlers-Danlos syndromes
Connective tissue disorders
Cutis laxa, hereditary
Ehlers-Danlos syndrome, arthrochalasis type
Ehlers-Danlos syndrome, classic al
Ehlers-Danlos syndrome, dermatosparaxis
Ehlers-Danlos syndrome, hypermobility
Ehlers-Danlos syndrome, kyphoscoliotic
Ehlers-Danlos syndrome, rare variants
Ehlers-Danlos syndrome, vascular
Pseudoxanthoma Elasticum
Arterial tortuosity syndrome
 
 
Foundation IRCCS-Casa Sollievo della Sofferenza
Viale Cappuccini 1
71013 San Giovanni Rotondo (Foggia), Italy
Marco Castori, MD, PhD
Clinical center for Ehlers-Danlos syndromes

 

Department of Life 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

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
University Medical Center Groningen, Rijksuniversiteit Groningen
Postbus 30.001
9700 RB Groningen, The Netherlands
Department of Dermatology
Dr. M.C. Bolling, MD PhD, dermatologist
Department of Clinical Genetics
Dr. P.C. Van den Akker, MD PhD, Clinical Geneticist
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