Ectodermal Dysplasias - Specialized Centers
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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 |
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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 Genetics (CMBG)
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 Genetics (CMBG)
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 |
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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 MAGEC centre, Dermatology department Activities: outclinic and Diagnostic certified expert centre for clinic and diagnosis |
Necker hospital for sick children MAGEC centre, Dermatology department |
MAGEC centre, Dermatology department INSERM U393 department of Genetics Research: new genes, phenotype-genotype correlation, natural history, drug repositioning |
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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 Department of Dermatology, Venerology and Allergy 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 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 DIAGENOS Department of Dermatology Universitätsklinikum Heidelberg
Institute of Pathology Heidelberg IPH EM-Labor Im Neuenheimer Feld 224
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 University Freiburg - Medical Center |
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
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Dept. of Dermatology, Venerology and Dermatooncology |
Department of Dermatology, Venerology and Dermatooncology |
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Department of Dermatology |
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ARS RADIOLOGICA s.r.l. Centro per le malattie cutanee ereditarie Dermatologia - IRCCS Policlinico di S.Orsola
Dermatology, Department of Experimental, Diagnostic and Specialty Medicine
University of Bologna
Via Massarenti, 1 40138
Bologna, Italy
Dr Iria Neri
iria.neri@aosp.bo.itDipartimento 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 Neurology Unit Unità Operativa Semplice di Genetica Clinica U.O. Riabilitazione Infantile Terzo Livello I Division of Dermatology s |
CEINGE Biotecnologie Avanzate SCarl (Center for Genetic Engineering) 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
Laboratorio di Biologia molecolare e Genetica "Cante di Montevecchio" Telethon Institute of Genetics and Medicine
Via Campi Flegrei 34 80078 Pozzuoli (NA)
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CEINGE Biotecnologie Avanzate SCarl (Center for Genetic Engineering) Department of Structural and Functional Biology Department of Structural and Functional Biology Human Molecular genetics Telethon Institute of Genetics and Medicine
Via Campi Flegrei 34 80078 Pozzuoli (NA)
Project title: the molecular basis of Oral-facial-digital type 1 syndrome |
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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 |
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Service de Dermatologie et Vénéréologie |
Division of Human Genetics / Dept. of Paediatrics Molecular Diagnostic Laboratory, Medical Genetics |
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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 and multidisciplinary clinics for Epidermolysis Bullosa and related disorders. DNA: Whole exome sequencing-based gene-panel analysis of (among others) Ichthyosis related genes, epidermolysis bullosa related genes, ectodermal dysplasia related genes, and palmoplantar keratoderma related genes; HPO-term phenotype-directed analysis, and open exome analysis. |
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
Department of Dermatology
Dr. M.C. Bolling, MD PhD, dermatologist
Department of Clinical Genetics
Dr. P.C. Van den Akker, MD PhD, Clinical Geneticist
Electron microscopy and Immunofluorescence analysis of keratinization disorders, ectodermal dysplasia and epidermolysis bullosa and related disorders
DNA: Whole exome sequencing-based gene-panel analysis of (among others) Ichthyosis related genes, epidermolysis bullosa related genes, ectodermal dysplasia related genes, and palmoplantar keratoderma related genes; HPO-term phenotype-directed analysis, and open exome analysis.
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Laboratory of Dermatology and the Laboratory of Genetics,
University Medical Center Groningen, Rijksuniversiteit Groningen
Postbus 30.001
9700 RB Groningen, The Netherlands
Dr. M.C. Bolling
Dr. P.C. van den Akker
Dr. A.M.G Pasmooij
Dr. B. Horvath
Dr. H.H. Pas
Dr. J. Bremer
Project Title: Exon skipping for Epidermolysis Bullosa
Project Title: Novel genes in skin fragility disorders
Project Title: KLHL24 function in cutaneous and extracutaneous tissues
Project Title: Desmosomal gene function in skin and heart
Project Title: Revertant mozaïcisme in Epidermolysis Bullosa
Project Title: Analysis and optimizing diagnostic methods in Epidermolysis Bullosa and Ichthyosis
Prof Dr. A. Visser, MD PhD (a.visser@umcg.nl)
Department of Oral and Maxillofacial Surgery,
University Medical Center Groningen,
9700 RB Groningen,
The Netherlands
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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 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
Ninewells Hospital DD1 9SY Dundee UK David Baty, PhD (Head) david.baty@nhs.scot Keiko Asakura
Genetic testing for skin conditions (Naegeli syndrome)
Genetic Skin Disease Group Division of Genetics and Molecular Medicine |
Centre for Cell Biology and Cutaneous Research
Blizard Institute
4 Newark St
London E1 2AT
Professor Edel O’Toole
Centre for Cell Biology and Cutaneous Research
Queen Mary University of London
Barts & The London School of Medicine and Dentistry
Blizard Building
4 Newark Street
London E1 2AT
Prof. David Kelsell d.p.kelsell@qmul.ac.uk Research activities on: Biology of Connexins Genetic Skin Disease Group |