Ectodermal Dysplasias - 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
   
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
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
Department of Genetics
INSERM U 781, Tour Lavoisier, 3rd floor
149 rue de Sèvres
Paris cedex 15
FRANCE
75743
Prof. Alain Hovnanian, M.D., Ph.D.
alain.hovnanian@inserm.fr
Outpatient clinic for Genodermatoses or rare diseases (for Dyskeratosis congenita, Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome, Incontinentia pigmenti, and Rapp-Hodgkin syndrome)

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

 

Necker hospital for sick children
Department of Genetics
INSERM U781, Tour Lavoisier, 3rd floor
149 rue de Sèvres
Paris cedex 15
FRANCE
75743
Prof. Alain Hovnanian, M.D., Ph.D.
alain.hovnanian@inserm.fr
Molecular diagnosis of Hypohidrotic ectodermal dysplasia

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
Cell biology of Hypohidrotic ectodermal dysplasia
Cell biology of Hypohidrotic ectodermal dysplasia, with immune deficiency
Cell biology of Hypohidrotic ectodermal dysplasia, with immune deficiency, osteopetrosis and lymphoedema
Cell biology of Hypohidrotic ectodermal dysplasia, with hypothyroidism and ciliary dyskinesia
Cell biology of Incontinentia pigmenti
Histology/ Immunohistochemistry of Incontinentia pigmenti
Histology/ Immunohistochemistry of Mucoepithelial dysplasia, hereditary
Electron microscopy of Mucoepithelial dysplasia, hereditary
Molecular diagnosis of Hypohidrotic ectodermal dysplasia
Molecular diagnosis of Hypohidrotic ectodermal dysplasia, with immune deficiency
Molecular diagnosis of Hypohidrotic ectodermal dysplasia, with immune deficiency, osteopetrosis and lymphoedema
Molecular diagnosis of Incontinentia pigmenti

MAGEC centre, Dermatology department INSERM U393 department of Genetics
Necker Enfants Malades Hospital, Assistance Publique,
149 rue de Sèvres
Paris
France
75015
Prof. Christine Bodemer
Christine.Bodemer@nck.aphp.fr
Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric dermatology

GERMANY
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER
Zentrum für ektodermale Dysplasien am Universitätsklinikum Erlangen
Loschgestraße 15
91054 Erlangen
Germany
Prof. Dr. med. Holm Schneider
holm.schneider@uk-erlangen.de
zeder@uk-erlangen.de

 

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 (Rothmund-Thomson syndrome, Ulnar-mammary syndrome)
 

Department of Dermatology
University Hospital
Von-Esmarch-Str. 58
Muenster
Germany
48149
Prof. Heiko Traupe
traupeh@ukmuenster.de
Dr. Vinzenz Oji
Vinzenz.oji@ukmuenster.de
Outpatient clinic for Incontinentia pigmenti
Outpatient clinic for Rothmund-Thomson syndrome
Outpatient clinic for Pediatric dermatology (for Incontinentia pigmenti and Rothmund-Thomson syndrome)

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 Ectodermal Dysplasias
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

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

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
Molecular diagnosis of Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome)
Molecular diagnosis of Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC syndrome)
Molecular diagnosis of Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (EEC syndrome)
Molecular diagnosis of Limb-mammary syndrome
Molecular diagnosis of Rapp-Hodgkin syndrome
Molecular diagnosis of Rothmund-Thomson syndrome
Molecular diagnosis of Ulnar-mammary syndrome Molecular analysis of ectodermal dysplasia X-linked (EDA1)
Molecular analysis of ectodermal dysplasia autosomal recessive (EDAR, EDARADD)
 

Center for Human Genetics Regensburg
Universitätsklinikum, D3
Franz-Josef-Strauss-Allee 11
Regensburg
Germany
93053
Ute Hehr, MD
info@humangenetik-regensburg.de
Molecular analysis of Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome)
Molecular analysis of Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC syndrome)
Molecular analysis of Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (EEC syndrome)
Molecular analysis of Hypohidrotic ectodermal dysplasia
Molecular analysis of Limb-mammary syndrome
Molecular analysis of Rapp-Hodgkin syndrome

DIAGENOS
Center for Medical Genetics
Caprivistr. 30
Osnabrueck
Germany
49076
Dr. Heinz Gabriel
h.gabriel@diagenos.com
Molecular diagnosis of Hypohidrotic ectodermal dysplasia and others

Department of Dermatology
University Hospital
Von-Esmarch-Str. 58
Muenster
Germany
48149
Prof. Heiko Traupe
traupeh@ukmuenster.de
Dr. Vinzenz Oji
Vinzenz.oji@ukmuenster.de
Histology/ Immunohistochemistry of Incontinentia pigmenti

Universitätsklinikum Heidelberg
Institute of Pathology Heidelberg IPH
EM-Labor
Im Neuenheimer Feld 224
69120 Heidelberg
Dr. rer. nat. Ingrid Haußer-Siller
Ingrid.Hausser-Siller@med.uni-heidelberg.de
http://www.klinikum.uni-heidelberg.de/Pathologisches-Institut.112.0.html
Histology/ Immunohistochemistry of Hidrotic ectodermal dysplasia (Clouston syndrome)
Histology/ Immunohistochemistry of Hypohidrotic ectodermal dysplasia
Histology/ Immunohistochemistry of Hypohidrotic ectodermal dysplasia, with immune deficiency
Histology/ Immunohistochemistry of Hypohidrotic ectodermal dysplasia, with immune deficiency, osteopetrosis and lymphoedema
Histology/ Immunohistochemistry of Hypohidrotic ectodermal dysplasia, with hypothyroidism and ciliary dyskinesia
Histology/ Immunohistochemistry of Hypohidrotic ectodermal dysplasia with hypothyroidism and agenesis of the corpus callosum
Electron microscopy of Ectodermal dysplasia, skin fragility syndrome

 

Institute of Medical Genetics
Charité - Universitätsmedizin Berlin
Augustenburger Platz 1
Berlin
D-13353 Germany
Prof. Stefan Mundlos
Dr. Hartmut Peters
hartmut.peters@charite.de
Molecular diagnosis of Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome)
Molecular diagnosis of Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC syndrome)
Molecular diagnosis of Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (EEC syndrome)
Molecular diagnosis of Limb-mammary syndrome
Molecular diagnosis of Rapp-Hodgkin syndrome
Molecular diagnosis of Ulnar mammary syndrome Gerodermia osteodysplastica 231070 GORAB, PYCR1

University Freiburg - Medical Center
Department of Dermatology
Hauptstraße 7
79104 Freiburg i. Br.
Germany
Prof. Leena Bruckner-Tuderman
Daniela Kirstein
eb-zentrum@uniklinik-freiburg.de
Molecular analysis of Incontinentia pigmenti

Abteilung für Molekulare Pädiatrie am Universitätsklinikum Erlangen
Loschgestraße 15
91054 Erlangen
Germany
Prof. Dr. med. Holm Schneider
holm.schneider@uk-erlangen.de
zeder@uk-erlangen.de
basic and clinical research on ectodermal dysplasias and lamellar ichthyosis

 

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 (Focal dermal hypoplasia, Hypohidrotic ectodermal dysplasia, and Incontinentia pigmenti)
Outpatient clinic for Pediatric Dermatology (Focal dermal hypoplasia, Hypohidrotic ectodermal dysplasia, and Incontinentia pigmenti)

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 Ectodermal dysplasias
Electron microscopy of Ectodermal dysplasias

 

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 (Acro-dermato-ungual-lacrimal-tooth syndrome, Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome, Arthrogryposis and ectodermal dysplasia, Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome, Cartilage-hair hypoplasia syndrome, Cleft lip/palate-ectodermal dysplasia sindrome, Congenital insensitivity to pain with anhidrosis, Cranioectodermal syndrome, Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome, Ellis-van Creveld syndrome, Focal dermal hypoplasia syndrome, Growth retardation-alopecia-pseudoanodontia-optic atrophy, Hallerman-Streiff syndrome, Incontinentia pigmenti, Johanson-Blizzard syndrome, Johnson neuroectodermal syndrome, Limb-mammary syndrome, Mucoepithelial dysplasia, hereditary, Marshall syndrome, Oculodentodigital displasia, Odontoonychodermal dysplasia, Odontotrichomelic syndrome, Onychotrichodysplasia and neutropenia, Orofaciodigital syndrome type I, Rothmund-Thomson syndrome, Taurodontia, absent teeth and sparse hair, Trichodental dysplasia, Trichodentoosseous syndrome, Ulnar mammary syndrome, and Weyer acrofacial dysostosis)

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 di scienze dermatologiche
Via della Pergola, 58
Florence
50121 Italy
Prof. Paolo Fabbri
fabbri@unifi.it
Outpatient clinic for Genodermatoses or 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
 

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 Ectrodactyly-ectodermal dysplasia-cleft lip/palate sindrome and Incontinentia pigmenti)

Neurology Unit
Bambino Gesù Children’s Hospital
Piazza S. Onofrio, 4
00165 Rome
Italy
Prof. Federico Vigevano
vigevano@opbg.net
Outpatient clinic for Epileptic disorders (for Incontinentia Pigmenti and Johnson neuroectodermal dysplasia)

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 (Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome, Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome, and Incontinentia Pigmenti)

U.O. Riabilitazione Infantile Terzo Livello
Arcispedale Santa Maria Nuova
Viale Risorgimento 80
42100 Reggio Emilia
Italy
Prof. Adriano Ferrari
Dr. Silvia Sassi
sassi.silvia@asmn.re.it
Outpatient clinic for Rehabilitative clinic (for Incontinentia pigmenti)

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

s

CEINGE Biotecnologie Avanzate SCarl (Center for Genetic Engineering)
via Comunale Margherita 482
Naples
Italy
80145
Dr. Caterina Missero
missero@ceinge.unina.it
Molecular analysis of Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC syndrome)

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

 

Institute of Genetics and Biophysics
Via P.Castellino 111
Naples
Italy
80131
Dr. Matilde Valeria Ursini
matildevaleria.ursini@igb.cnr.it
Molecular analysis of Hypohidrotic ectodermal dysplasia, with immune deficiency
Molecular analysis of Hypohidrotic ectodermal dysplasia, with immune deficiency, osteopetrosis and lymphoedema
Molecular analysis of Incontinentia pigmenti

 

Laboratorio di Biologia molecolare e Genetica "Cante di Montevecchio"
Associazione Cante di Montevecchio
Via Negusanti s.n.
Fano (PU)
61032 Italy
Dr. Luigia Varriale
luigia.varriale@genetica-cante.it
Molecular diagnosis of hypohidrotic ectodermal dysplasia

Telethon Institute of Genetics and Medicine
Via Campi Flegrei 34
80078 Pozzuoli (NA)
Italy
Dr. Brunella Franco

franco@tigem.it
Molecular diagnosis of Orofaciodigital sindrome type I

CEINGE Biotecnologie Avanzate SCarl (Center for Genetic Engineering)
via Comunale Margherita 482
Naples
Italy
80145
Dr. Caterina Missero
missero@ceinge.unina.it
Project title: Pathogenetic mechanisms underlying the AEC syndrome: generation of mouse models and characterization of target genes

Department of Structural and Functional Biology
Molecular Genetics
University of Naples "Federico II"
via Cinzia, 26
Naples
Italy
80126
Prof. Girolama La Mantia
lamantia@unina.it
Project title: a molecular and functional study on p63 mutant proteinsoccurring in EEC, AEC and other human hereditary ectodermal syndromes

Department of Structural and Functional Biology
University of Naples "Federico II"
via Cinzia, 26
Naples
Italy
80126
Prof. Maria Furia
Dr. Mimmo Turano
mimmo.turano@unina.it
Project title: Expression and biological role of the human DKC1 gene and its orthologue in D. melanogaster

Human Molecular genetics
Institute of Genetics and Biophysics
Via P.Castellino 111
Naples
Italy
80131
Dr. Matilde Valeria Ursini
matildevaleria.ursini@igb.cnr.it
Molecular analysis of Hypohidrotic ectodermal dysplasia, with immune deficiency
Molecular analysis of Hypohidrotic ectodermal dysplasia, with immune deficiency, osteopetrosis and lymphoedema
Molecular analysis of Incontinentia pigmenti

Project title: Unravelling the molecular mechanisms of impaired NEMO function in IP pathogenesis

Telethon Institute of Genetics and Medicine
Via Campi Flegrei 34
80078 Pozzuoli (NA)
Italy
Dr. Brunella Franco

franco@tigem.it

Project title: the molecular basis of Oral-facial-digital type 1 syndrome

SWEDEN
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER
Department of dermatology
University Hospital  
entrance 30 level 4
751 85 Uppsala
Sweden
Marie Virtanen, M.D,, PhD
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
Lausanne
Suisse
1011
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 Hidrotic ectodermal dysplasia (Clouston syndrome)
Molecular diagnosis of Rothmund-Thomson syndrome

Molecular Diagnostic Laboratory, Medical Genetics
Geneva University Hospital
1 rue Michel-Servet
Geneva
Switzerland
1211
Dr. Michael Morris
Isabelle Gauchat-Bouchardy
isabelle.bouchardy@unige.ch
Molecular diagnosis of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy syndrome (APECED)
Molecular diagnosis of Hypohidrotic ectodermal dysplasia

 

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
Performance of molecular diagnostics for all ectodermal dysplasias with WES and a filter for ED related genes. Our dentistry department is specialized in ED as well.
Department of Genetics, section of genome diagnostics
University Medical Center Groningen, Rijksuniversiteit Groningen
Potbus 30.001
9700 RB Groningen, The Netherlands
Dr. H.H. Lemmink

 

UNITED KINGDOM
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER
Department of Dermatology
Royal London Hospital
London E1 1BB
UK
Professor Edel O’Toole
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
UK
Dr. Jemima Mellerio
jemima.mellerio@kcl.ac.uk 
Outpatient clinic for genodermatoses or rare diseases (for Acro-dermato-ungual-lacrimal-tooth syndrome, Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome, Cleft lip/palate-ectodermal dysplasia syndrome, Curly hair-ankyloblepharon-nail dysplasia syndrome, Ectodermal dysplasia, skin fragility syndrome, Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome, Focal dermal hypoplasia syndrome, Hidrotic ectodermal dysplasia, Hypohidrotic ectodermal dysplasia, Limb-mammary syndrome, Mucoepithelial dysplasia, Naegeli syndrome, Rapp-Hodgkin syndrome, and Schopf-Schulz-Passarge syndrome). 
Outpatient clinic for pediatric dermatology (for Acro-dermato-ungual-lacrimal-tooth syndrome, Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome, Cleft lip/palate-ectodermal dysplasia syndrome, Dyskeratosis congenita, Ectodermal dysplasia, skin fragility syndrome, Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome, Focal dermal hypoplasia syndrome, Hidrotic ectodermal dysplasia, Hypohidrotic ectodermal dysplasia, Incontinentia pigmenti, Mucoepithelial dysplasia, Rapp-Hodgkin syndrome, and Rothmund-Thomson syndrome) Diagnostic: via Robin Eady National Diagnostic EB Laboratory

Genetics Laboratories
Addenbrooke's Treatment Centre
Cambridge University Hospitals NHS Foundation Trust
Hills Road
Cambridge
UK
CB2 0QQ
Dr. Joanne Whittaker
Rebecca Treacy
becky.treacy@addenbrookes.nhs.uk
Molecular diagnosis of Incontinentia Pigmenti

Genetic Skin Disease Group 
St John’s Institute of Dermatology
St Thomas’ Hospital Westminster Bridge Road 
London SE1 7EH
UK
Dr. Jemima Mellerio
jemima.mellerio@kcl.ac.uk 
Diagnostic: via Robin Eady National Diagnostic EB Laboratory
 
East of Scotland Regional Genetics Service
Ninewells Hospital
DD1 9SY Dundee
UK
David Baty, PhD (Head)
dbaty@nhs.net
Keiko Asakura
Genetic testing for skin conditions (Naegeli syndrome)
 

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
Prof. John McGrath
Dr. Suzanne Clements
Suz_clements@hotmail.com
Histology/ Immunohistochemistry of Ectodermal dysplasia, skin fragility syndrome
Electron microscopy of Ectodermal dysplasia, skin fragility syndrome
Molecular analysis of Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome)
Molecular analysis of Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC syndrome)
Molecular analysis of Ectodermal dysplasia, skin fragility syndrome (McGrath syndrome)
Molecular analysis of Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (EEC syndrome)
Molecular analysis of Limb-mammary syndrome
Molecular analysis of Rapp-Hodgkin syndrome

Centre for Cell Biology and Cutaneous Research
Blizard Institute
4 Newark St
London E1 2AT
Professor Edel O’Toole
 

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

Genetic Skin Disease Group
St John’s Institute of Dermatology - St Thomas’ Hospital
Division of Genetics and Molecular Medicine
Westminster Bridge Road
London SE1 7EH
England
Prof. John McGrath
john.mcgrath@kcl.ac.uk
Research activities on: Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome)
Research activities on: Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC syndrome)
Research activities on: Cleft lip/palate-ectodermal dysplasia syndrome
Research activities on: Ectodermal dysplasia, skin fragility syndrome
Research activities on: Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (EEC syndrome)
Research activities on: Naegeli syndrome
Research activities on: Rapp-Hodgkin syndrome