AUSTRIA
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Department of Dermatology
Innsbruck Medical University
Anichstr. 35              
Innsbruck
Austria
6020
Prof. Matthias Schmuth
Dr. Robert Gruber
r.gruber@i-med.ac.at
Outpatient clinic for Genodermatoses or rare diseases

   
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 (Hallerman-Streiff syndrome, Hidrotic ectodermal dysplasia, hypohidrotic ectodermal dysplasia, hypohidrotic ectodermal dysplasia with immune deficiency, Incontinentia pigmenti, and Rothmund-Thomson syndrome)

 

 

FRANCE
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

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)

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

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 des épidermolyses bulleuses héréditaires
Hôpital Archet 2
BP 3079
06202 Nice Cedex
France
Prof. Jean Paul Ortonne
Prof. Jean Philippe Lacour
lacour@unice.fr
Dr. Christine Chiaverini
chiaverini.c@chu-nice.fr
Outpatient clinic for Pediatric dermatology (for Dyskeratosis congenita, Ectodermal dysplasia, pure hair and nail type, Focal dermal hypoplasia syndrome, Hallerman-Streiff syndrome, Hidrotic ectodermal dysplasia, Hypohidrotic ectodermal dysplasia, Incontinentia pigmenti, and Rothmund-Thomson syndrome)

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 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 (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

Department of Dermatology 
Ludwig-Maximilian University Munich
Frauenlobstr. 9-11
München
Germany
80337
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 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

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

 

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 (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 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 (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

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 (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)

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 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)

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 

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)

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 Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC syndrome)
Histology/Immunohistochemistry of Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED)
Histology/Immunohistochemistry of Cleft lip/palate-ectodermal dysplasia syndrome
Histology/Immunohistochemistry of Clouston syndrome
Histology/Immunohistochemistry of Dyskeratosis congenita
Histology/Immunohistochemistry of Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (EEC syndrome)
Histology/Immunohistochemistry of Focal dermal hypoplasia syndrome
Histology/Immunohistochemistry of Hypohidrotic ectodermal displasia
Histology/Immunohistochemistry of Incontinentia pigmenti
Histology/Immunohistochemistry of Orofaciodigital syndrome type I
Histology/Immunohistochemistry of Rapp-Hodgkin syndrome
Histology/Immunohistochemistry of Rothmund-Thomson syndrome
Histology/Immunohistochemistry of Trichodental syndrome

Human Molecular genetics
Institute of Genetics and Biophysics
Via P.Castellino 111
Naples
Italy
80131
Dr. Matilde Valeria Ursini
Dr. Francesca Fusco
ursini@igb.cnr.it
fuscof@igb.crn.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

TIGEM - Telethon Institute of Genetics and Medicine
Via Pietro Castellino 111
Naples
Italy
80131
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 Vaerlia Ursini
Dr. Francesca Fusco
ursini@igb.cnr.it
fuscof@igb.cnr.it
Project title: Unravelling the molecular mechanisms of impaired NEMO function in IP pathogenesis

Telethon Institute of Genetics and Medicine
Via Pietro Castellino 111
Naples
Italy
80131
Dr. Brunella Franco 
franco@tigem.it
  
Project title: the molecular basis of Oral-facial-digital type 1 syndrome

SWEDEN
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Department of Dermatology - Genodermatoses Centre
Uppsala University Hospital
Uppsala
Sweden 
SE-751 85
Prof. Anders Vahlquist
Anders.Vahlquist@medsci.uu.se
Dr. Marie Virtanen
marie.virtanen@akademiska.se
Outpatient clinic for Genodermatoses or rare diseases (for Hidrotic ectodermal dysplasia, Incontinentia pigmenti and Rapp-Hodgkin syndrome)

 

 

SWITZERLAND
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH 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 CENTERDIAGNOSTIC CENTERRESEARCH CENTER

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

Deparmtent of Genetics/Section of Genome
University Medical Centre Groningen
Hanzeplein 1  
9700RB Groningen
The Netherlands
Dr. Henny Lemmink
H.H.Lemmink@umcg.nl or secr-dna@medgen.umcg.nl
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

 

UNITED KINGDOM
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Centre Cutaneous Research
Barts/London SMD/QMUL
4 Newark St
London E1 2AT
UK 
Dr. Edel O’Toole
e.a.otoole@qmul.ac.uk
Outpatient clinic for Genodermatoses or rare diseases (for Hidrotic ectodermal dysplasia)

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)

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 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 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