Specialized Centers :: Geneskin

Ectodermal Dysplasias - 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

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 Buchova Assist. Prof., MD., Ph.D. hbuchov@fnbrno.cz Blanka Pinková MD bpinkova@fnbrno.cz Jana Kýrová MD., Ing. jana.kyrova@fnbrno.cz Zuzana Nagy MD zuzana@strasak.com 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. lfajkusova@fnbrno.cz Lenka Kopecková, Ph.D. lenka.kopeckova@fnbrno.cz Romana Borská, Mgr. romana.borska@fnbrno.cz Molecular diagnosis of Genodermatoses and rare diseases	Centre of Molecular Biology and Gene Therapy (CMBGT) Faculty Hospital Brno, Masaryk University Brno IGA MH CR, project NT14585: Genodermatoses- molecular causes and diagnostics (2013-2015);

FRANCE
CLINICAL CENTER	DIAGNOSTIC CENTER	RESEARCH CENTER
Necker hospital for sick children Department of Genetics INSERM U 781, Tour Lavoisier, 3^rd 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, 3^rd 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
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 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	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 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	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

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
U.O. di Dermatologia Azienda Ospedaliera Spedali Civili di Brescia Piazzale Spedali Civili 1 25123 Brescia ITALY Dr. Andrea Brezzi Prof. Piergiacomo Calzavara Pinton Prof. Marina Colombi Dr. Marina Venturini dermatologia@spedalicivili. brescia.it 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 U.O.C. di Dermatologia Dipartimento di Medicina Pediatrica IRCCS Ospedale Pediatrico Bambino Gesù Piazza S. Onofrio 4 00165 Roma Italy Dr May El Hachem (chief Unit of Dermatology) Dr Andrea Diociaiuti Dr Annalisa Ciasulli may.elhachem@opbg.net andrea.diociaiuti@opbg.net Managing multidisciplinary approaches for Epidermolysis bullosa, Ichthyosis, Incontinentia Pigmenti and Vascular anomalies. Also for other several disorders, e.g. Ehlers-Danlos, NF, Ectodermal dysplasia etc 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	U.O. di Dermatologia Azienda Ospedaliera Spedali Civili di Brescia Piazzale Spedali Civili 1 25123 Brescia ITALY Dr. Andrea Brezzi Prof. Piergiacomo Calzavara Pinton Prof. Marina Colombi Dr. Marina Venturini dermatologia@spedalicivili. brescia.it 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	U.O. di Dermatologia Azienda Ospedaliera Spedali Civili di Brescia Piazzale Spedali Civili 1 25123 Brescia ITALY Dr. Andrea Brezzi Prof. Piergiacomo Calzavara Pinton Prof. Marina Colombi Dr. Marina Venturini dermatologia@spedalicivili. brescia.it 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 CENTER	DIAGNOSTIC CENTER	RESEARCH 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 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
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 CENTER	DIAGNOSTIC CENTER	RESEARCH 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 Molecular Genetics Laboratory East of Scotland Regional Genetics Service Ninewells Hospital DD1 9SY Dundee UK David Baty, PhD (Head) dbaty@nhs.net 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 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