Epithelial Adhesion - Specialized Centers
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Salzburger Landeskliniken |
Salzburger Landeskliniken/Molecular Dermatology |
Salzburger Landeskliniken/Molecular Dermatology |
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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
Department of Pathology |
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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Centre de Référence Maladies Rares de la Peau et des Muqueuses d'Origine Génétique 06202 Nice Cedex 3
France Dr. Christine Chiaverini Dr. Thomas Hubiche
Alexandra Charlesworth
27 Avndue valambrose, 06107 Nice, Cedex 02, France serre.s@chu-nice.fr
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 |
IRCAN-Faculté de Médecine, 9e étage
28, Ave de Valombrose 06107 Nice cedex 2 France Alexandra Charlesworth Alexandra.Charlesworth@unice.fr Histology/ Immunohistochemistry of Epidermolysis bullosa, major types and subtypes Molecular diagnosis of Epidermolysis bullosa, major types and subtypes
Necker hospital for sick children MAGEC centre, Dermatology department |
Necker hospital for sick children INSERM U634 MAGEC centre, Dermatology department Innovative therapies, Drug repositioning, Natural history, Pain, Individual Burden |
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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 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
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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 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 Epidermolysis bullosa dystrophic, dominant
Molecular diagnosis of Epidermolysis bullosa dystrophic, Hallopeau-Siemens Molecular diagnosis of Epidermolysis bullosa dystrophic, non-Hallopeau-Siemens Molecular diagnosis of Epidermolysis bullosa dystrophic, pruriginosa/pretibialis Molecular diagnosis of Epidermolysis bullosa junctional, non-Herlitz Molecular diagnosis of Epidermolysis bullosa junctional, Herlitz Molecular diagnosis of Epidermolysis bullosa simplex, Dowling-Meara Molecular diagnosis of Epidermolysis bullosa simplex, Koebner Molecular diagnosis of Epidermolysis bullosa simplex, Weber-Cockayne Molecular diagnosis of Epidermolysis bullosa simplex, with mottled pigmentation
Department of Dermatology Histology/ Immunohistochemistry of Epithelial Adhesion disorders Institute of Human Genetics Universitätsklinikum Heidelberg
Institute of Pathology Heidelberg IPH EM-Labor Im Neuenheimer Feld 224
Ultrastructural analysis/electron microscopy of epithelial adhesion disorders and EB types |
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 epidermolysis bullosa
University Freiburg - Medical Center |
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Dept. of Dermatology, Venerology and Dermatooncology |
Department of Dermatology, Venerology and Dermatooncology |
Department of Dermatology, Venerology and Dermatooncology |
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Department of Dermatology |
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U.O. di Dermatologia
ASST degli Spedali Civili di Brescia
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 Centro per le malattie cutanee ereditarie Chirurgia Plastica e Ricostruttiva IRCCS- Dermatologia Policlinico S.Orsola
Dermatology, Department of Experimental, Diagnostic and Specialty Medicine (DIMES)
University of Bologna via Massarenti 1 40138 Bologna ITALY Dr. Iria Neri iria.neri@aosp.bo.it Outpatient clinic for Genodermatoses or rare diseases
Dipartimento di scienze dermatologiche 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
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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
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
Centro per le malattie cutanee ereditarie 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 Laboratory of Molecular and Cell Biology |
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
Genodermatosis: Epidermolysis bullosa dystrophica
Laboratory of Molecular and Cell Biology |
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Regenerative Medicine Unit |
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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 |
Laboratoire de biologie cutanée |
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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.
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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
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
p.c.van.den.akker@umcg.nlElectron microscopy and Immunofluorescence analysis of keratinization disorders, ectodermal dysplasia and epidermolysis bullosa and related disordersDNA: 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
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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 Epithelial Adhesion Disorders Outpatient clinic for Genodermatoses or rare diseases Outpatient clinic for Pediatric dermatology |
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
Genetic Skin Disease Group
Genetic Skin Disease Group |