Keratinization Disorders - Specialized Centers :: Geneskin

Keratinization Disorders - 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 Center of Expertise for Disorders of Cornification / Genodermatoses Salzburger Landeskliniken Molecular Dermatology/EB House Austria Müllner Hauptstraße 48 5020 Salzburg Austria Prof. Dr. Johann Bauer Lydia Stremnitzer L.Stremnitzer@salk.at Outpatient clinic for Keratinization Disorders	Department of Dermatology Innsbruck Medical University Anichstr. 35 6020 Innsbruck Austria Prof. Matthias Schmuth Dr. Robert Gruber robert.gruber@tirol-kliniken.at - Centre of Expertise for Genodermatoses with focus on Disorders of Cornification - Genetic analyses for Disorders of Cornification (ichthyoses, keratoderma) and Neurofibromatosis - Transmission Electron Microscopy in individual cases of Disorders of Cornification Salzburger Landeskliniken/Molecular Dermatology Diagnostic Laboratory Müllner Hauptstraße 48 5020 Salzburg Austria Prof. Dr. Johann Bauer c.kulic@salk.at	Department of Dermatology Innsbruck Medical University Anichstr. 35 6020 Innsbruck Austria Prof. Matthias Schmuth Dr. Robert Gruber robert.gruber@tirol-kliniken.at - Keratin 9 mutations in keratoderma - Therapy of Netherton syndrome with monoclonal antibodies

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 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 IGA MH CR, project NT14585: Genodermatoses- molecular causes and diagnostics (2013-2015);

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 33076 Bordeaux cedex France Dr Fanny Morice-Picard fanny.morice-picard@chu-bordeaux.fr Necker hospital for sick chrildren Department of Genetics INSERM U781, Tour Lavoisier, 3^rd floor 149 rue de Sèvres France 75743 Paris cedex 15 Prof. Alain Hovnanian, M.D., Ph.D. alain.hovnanian@inserm.fr Outpatient clinic for Genodermatoses or rare diseases MAGEC centre, Dermatology department Necker Enfants Malades Hospital, Assistance Publique 149 rue de Sèvres 75015 Paris France Prof. Bodemer Christine Christine.Bodemer@aphp.fr Outpatient clinic for Genodermatoses or rare diseases Outpatient clinic for Pediatric dermatology Activities: outclinic and Diagnostic certified expert centre for clinic and diagnosis	Necker hospital for sick children Department of Genetics INSERM U781, Tour Lavoisier, 3rd floor 149 rue de Sèvres 75743 Paris cedex 15 France Prof. Alain Hovnanian, M.D., Ph.D. alain.hovnanian@inserm.fr Histology/ Immunohistochemistry of Bullous congenital ichthyosiform erythroderma Histology/ Immunohistochemistry of Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma Histology/ Immunohistochemistry of Netherton syndrome Molecular diagnosis of Bullous congenital ichthyosiform erythroderma Molecular diagnosis of Darier disease Molecular diagnosis of Hailey-Hailey disease Molecular diagnosis of Harlequin type ichthyosis congenita Molecular diagnosis of KID syndrome Molecular diagnosis of Pachyonychia congenita type 1 Molecular diagnosis of Pachyonychia congenita type 2 Molecular diagnosis of Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma Molecular diagnosis of Mutilating Vohwinkel palmo-plantar keratoderma with deafness Molecular diagnosis of Netherton syndrome Laboratoire De Spectrométrie De Masse Faculte De Medecine Saint Antoine 27 Rue Chaligny Paris France 75012 Dr. Claude Wolf, MD Wolf@Ccr.Jussieu.Fr Antonin Lamaziere, PhD antonin.lamaziere@upmc.fr Biochemical analysis of Refsum disease Biochemical analysis of X-linked recessive ichthyosis 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 Histology/ Immunohistochemistry of Keratinization Disorders Electron microscopy of Keratinization Disorders Laboratoire de Biochimie Métabolique Institut Fédératif de Biologie TSA 40031 330, Avenue de Grande-Bretagne 31059 Toulouse Cedex 9 France Prof. Thierry Levade levade.t@chu-toulouse.fr Biochemical and Molecular analysis of Refsum disease; Enzymatic analysis of Papillon-Lefevre 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 alain.hovnanian@inserm.fr *Research activities on:* Pathophysiology and Treatment Dermatologic Diseases Centre National de Génotypage 2 rue Gaston Crémieux 91057 Evry France Prof. Mark Lathrop project-manager@cng.fr *Research activities on:* Chanarin-Dorfman syndrome Research activities on: Harlequin type ichthyosis congenita Research activities on: Lamellar ichthyosis Research activities on: Non-bullous congenital ichthyosiform erythroderma Research activities on: X-linked recessive ichthyosis Laboratoire de Spectrométrie de Masse Biochimie Faculte de Medecine Saint Antoine 505, 27 rue Chaligny 75012 Paris France Dr. Claude Wolf wolf@ccr.jussieu.fr Antonin Lamaziere, PhD antonin.lamaziere@upmc.fr *Research activities on:* Refsum disease Research activities on: X-linked recessive ichthyosis 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@aphp.fr *Project title:* Clinical, immunohistochemical analysis and research of a genotype/phenotype correlation (Netherton syndrome) Research activities: new genes, phenotype-genotype correlation, natural history, drug repositionning for ichthyosis, Netherton syndrome , Palmoplantar Keratoderma

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 Department of Dermatology University Hospital Von-Esmarch-Str. 58 Muenster Germany 48149 Dr. Kira Süßmuth Kira.Suessmuth@ukmuenster.de Dr. Vinzenz Oji Vinzenz.oji@ukmuenster.de Outpatient clinic for Keratinization Disorders (all except for Chanarin-Dorfman syndrome, pachyonychia congenita type 1 and 2, and Refsum disease) Outpatient clinic for Genodermatoses or rare diseases (all except for Chanarin-Dorfman syndrome, pachyonychia congenita type 1 and 2, and Refsum disease) Department of Dermatology University Freiburg - Medical Center Hauptstraße 7 79104 Freiburg i. Br. Germany Prof. Dr. Cristina Has cristina.has@uniklinik-freiburg.de Outpatient clinic for Genodermatoses or rare diseases Department of Dermatology, University Hospital Giessen and Marburg, Division Marburg Philipp University Marburg Baldingerstrasse 35033 Marburg Germany Prof. Michael Hertl Dr. Arne König koeniga@med.uni-marburg.de Outpatient clinic for Genodermatoses/rare diseases (for CHILD syndrome, Darier disease, and Hailey-Hailey disease) 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 Keratinization Disorders 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 kathrin.giehl@med.uni-muenchen.de www.izsgh.klinikum.uni-muenchen.de Outpatient clinic for genodermatoses and rare skin diseases Outpatient clinic for Pediatric Dermatology	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 SYNLAB Center for Human Genetics Freiburg Heinrich-von-Stephan-Str. 5 Freiburg, Germany, 79100 Medical director: Prof. Dr. Jürgen Kohlhase, MD juergen.kohlhase@synlab.com Molecular diagnosis of Erythrokeratodermia variabilis Molecular diagnosis of Keratitis-ichthyosis-deafness syndrome Moleculare analysis of Chanarin-Dorfman syndrome (ABHD5) Molecular analysis of Harlequin type ichthyosis congenita (ABCA12) Molecular analysis of Lamellar ichthyosis/non-bullous congenital ichthyosiform erythroderma (TGM1, ABCA12, ALOX12B, ALOXE3, NIPAL4 and other genes) Molecular analysis of X-linked recessive ichthypsis (STS) Molecular analysis of Netherton syndrome (SPINK5) Molecular analysis of ichthyosis vulgaris (FLG) Exome and clinical exome analysis Molecular diagnosis of Epidermolysis bullosa (all genes Department of Dermatology University Hospital Von-Esmarch-Str. 58 Muenster Germany 48149 Dr. Kira Süßmuth Kira.Suessmuth@ukmuenster.de Dr. Vinzenz Oji Vinzenz.oji@ukmuenster.de Histology/ Immunohistochemistry and Biochemical analysis of ARCI (Harlequin ichtyosis, lamellar ichthyosis, congenital ichthyosiform erythroderma) Histology/ Immunohistochemistry/Biochemical analysis and DNA analysis of peeling skin diseases (peeling skin syndrome type A and B) Histology of keratinopathic ichthyosis (epidermolytic ichthyosis, superficial epidermolytic ichthyosis and ichthyosis variegata, etc.) Histology of Darier disease Histology of Erythrokeratodermia variabilis Histology of Hailey-Hailey disease Histology of Keratitis-ichthyosis-deafness syndrome Histology/ Immunohistochemistry of Netherton syndrome Histology/ Immunohistochemistry of Sjögren Larsson syndrome Histology/Immunohistochchthyosis emistry of X-linked recessive ichthyosis ...and others Department of Dermatology University Freiburg - Medical Center Hauptstraße 7 79104 Freiburg i. Br. Germany Dr. Kristin Technau-Hafsi kristin.technau@uniklinik-freiburg.de Prof. Dr. Cristina Has cristina.has@uniklinik-freiburg.de Histology/ Immunohistochemistry of Keratinization disorders Epidermolytic Ichthyoses, ichthyosis vulgaris, Netherton syndrome Institute of Human Genetics University Clinic of Freiburg Breisacher Str. 33 79106 Freiburg i. Br. Germany Prof. Dr. med. Dr. Judith Fischer judith.fischer@uniklinik-freiburg.de Diagnostics sprectrum is regularly updated under http://www.uniklinik-freiburg.de/humangenetik/ Mutation diagnosis for all ARCI 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 Ultrastructural analysis/electron microscopy of keratinization disorders DIAGENOS Center for Medical Genetics Caprivistraße 30 49076 Osnabrueck Germany Dr. Heinz Gabriel h.gabriel@diagenos.com Molecular diagnosis for CHILD syndrome, Refsum disease, Sjögren Larsson syndrome Zentrum fuer Humangenetik Universitaetsklinikum Giessen und Marburg Bahldingerstrasse Marburg Germany 35032 Prof. Dr. med. Stefan Bohlander sbohlan@googlemail.com Molecular analysis of CHILD syndrome Zentrum Kinderheilkunde und Jugendmedizin Stoffwechsellabor Pädiatrie II 1D3 646, Robert-Koch-Str. 40 37075 Göttingen PD Dr. Dr. med. Robert Steinfeld ncl@med.uni-goettingen.de or www.paediatrie2.med.uni-goettingen.de Biochemical diagnosis of X-linked Ichthyosis	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 Department of Dermatology University Hospital Von-Esmarch-Str. 58 Muenster Germany 48149 Dr. Kira Süßmuth Kira.Suessmuth@ukmuenster.de Dr. Vinzenz Oji Vinzenz.oji@ukmuenster.de *Project title:* Development of enzyme replacement therapy for TGase1 deficient lamellar ichthyosis Project title: Immunohistochemical assessment and mutation analysis of peeling skin diseases Project title: Immunohistochemical assessment of Netherton syndrome Project title: Immunohistochemical assessment of Ichthyosis vulgaris Division of Dermatogenetics, Cologne Center for Genomics University of Cologne Weyertal 115b 50931 Köln Germany Dr. Hans Christian Hennies hhennies@uni-koeln.de Project title: Identification and characterization of genes for autosomal recessive congenital ichthyosis Project title: Diagnosis, characterization, and prevention of autosomal recessive congenital ichthyosis Project title: Molecular and functional analysis of epidermal lipoxygenases Project title: Role of epidermal lipoxygenases for the barrier function of the skin Institute of Human Genetics University Clinic of Freiburg Breisacher Str. 33 79106 Freiburg i. Br. Germany Prof. Dr. med. Dr. Judith Fischer judith.fischer@uniklinik-freiburg.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 Outpatient clinic for Pediatric Dermatology	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 Keratinization Disorders Electron microscopy of Keratinization Disorders Biochemical diagnosis of Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma Molecular diagnosis of Darier disease Molecular diagnosis of Hailey-Hailey disease Molecular diagnosis of Pachyonichia congenita type 2 Molecular diagnosis of Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma	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 *Project title:* Genotype-phenotype correlation analysis in Hungarian cases of genodermatoses (Darier disease, Hailey-Hailey disease, Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma, and Netherton syndrome) Project title: Improving methodics of mutation analysis and prenatal diagnostics in genodermatoses (Darier disease, Hailey-Hailey disease, Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma, and Netherton syndrome)

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 Keratinization Disorders

ITALY
CLINICAL CENTER	DIAGNOSTIC CENTER	RESEARCH CENTER
Piazzale Spedali Civili 1 25123 Brescia ITALY Prof. Piergiacomo Calzavara Pinton Prof. Marina Venturini Prof. Marina Colombi dermatologia@asst-spedalicivili.it marina.venturini@unibs.it Outpatient clinic for heritable connective tissue disorders with cutaneous involvement, Epithelial adhesion disorders, Keratinization Disorders 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 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.it Dipartimento Medicina Interna e Specialità Mediche - Dermatologia Arcispedale Santa Maria Nuova di Reggio Emilia Viale Risorgimento, 80 42100 Reggio Emilia Italy Dr. Giuseppe Alberini Dr. Vito Di Lernia dilernia.vito@asmn.re.it Outpatient clinic for Pediatric dermatology (Darier disease) Dipartimento di scienze dermatologiche Via della Pergola, 58 50121 Florence Italy Prof. Paolo Fabbri fabbri@unifi.it Outpatient clinic for Genodermatoses or rare diseases Unità Operativa Semplice di Genetica Clinica Dipartimento Ostetrico-Ginecologico e Pediatrico Arcispedale Santa Maria Nuova di Reggio Emilia Viale Risorgimento, 80 42100 Reggio Emilia Italy Dr.ssa Livia Garavelli garavelli.livia@asmn.re.it Outpatient clinic for Genodermatoses or rare diseases (KID syndrome, Lamellar ichthyosis/non-bullous congenital ichthyosiform erythroderma, and Netherton syndrome) 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 Dr Giovanna Zambruno may.elhachem@opbg.net andrea.diociaiuti@opbg.net giovanna.zambruno@opbg.net 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 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	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 marina.colombi@unibs.it 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 Istituto di Scienze Dermatologiche - Università di Milano Via Pace 9 20122 Milano Italy MD Gianluca Tadini gtadinicmce@unimi.it Electron microscopy of Keratinization disorders 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 Dipartimento Medicina Interna e Specialità Mediche - Dermatologia Arcispedale Santa Maria Nuova di Reggio Emilia Viale Risorgimento, 80 42100 Reggio Emilia Italy Dr. Giuseppe Alberini Dr. Vito Di Lernia dilernia.vito@asmn.re.it Histology/ Immunohistochemistry of Darier disease Laboratory of Molecular and Cell Biology Istituto Dermopatico dell'Immacolata, IDI-IRCCS Via Monti di Creta 104 Rome Italy 00167 Prof. Giovanna Zambruno Dr. Daniele Castiglia d.castiglia@idi.it Histology/ Immunohistochemistry of Netherton syndrome Molecular diagnosis of Netherton syndrome U.O.C. Dermatologia Ospedale "Miulli" Strada Provinciale per Santeramo km. 4 70021 Acquaviva delle Fonti (BA) Dr. Vito Griseta vigris@libero.it Histology/ Immunohistochemistry of Darier disease U.O.C. Laboratorio di Genetica Medica Università degli Studi di Roma "La Sapienza" Azienda Ospedaliera San Camillo-Forlanini Circonvallazione Gianicolense 87 00152 Rome Italy Prof. Paola Grammatico paola.grammatico@uniroma1.it or pgrammatico@scamilloforlanini.rm.it Molecular diagnosis of Darier disease Molecular diagnosis of Hailey-Hailey disease Dipartimento di scienze dermatologiche Via della Pergola, 58 Florence 50121 Italy Prof. Paolo Fabbri fabbri@unifi.it Histology/ Immunohistochemistry diagnosis of Darier disease	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 marina.colombi@unibs.it 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 Laboratory of Molecular and Cell Biology Istituto Dermopatico dell'Immacolata, IDI-IRCCS Via Monti di Creta 104 Rome Italy 00167 Prof. Giovanna Zambruno Dr. Daniele Castiglia d.castiglia@idi.it *Project title:* Netherton syndrome: functional study of the detective gene SPINK5, and its encoded protein, LEKTI Project title: Development of novel diagnostic protocols for genodermatoses (Netherton syndrome) U.O.C. Laboratorio di Genetica Medica Università degli Studi di Roma "La Sapienza" Azienda Ospedaliera San Camillo-Forlanini Circonvallazione Gianicolense 87 00152 Rome Italy Prof. Paola Grammatico paola.grammatico@uniroma1.it or pgrammatico@scamilloforlanini.rm.it *Research activities on:* Darier disease Research activities on: Hailey-Hailey disease

SPAIN
CLINICAL CENTER	DIAGNOSTIC CENTER	RESEARCH CENTER
		Regenerative Medicine Unit Unidad Mixta CIEMAT and Universidad Carlos III de Madrid UC3M_CIBER on Rare Diseases Complutense 22, Complutense University Campus Madrid Spain 28040 Prof. Dr. Marcela Del Rio Nechaevsky marcela.delrio@ciemat.es and mrnechae@ing.uc3m.es *Project title:* Gene Therapy - Tissue Engineering

SWEDEN
CLINICAL CENTER	DIAGNOSTIC CENTER	RESEARCH CENTER
Department of Dermatology University Hospital entrance 30 level 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 Keratitis-ichthyosis-deafness syndrome Molecular diagnosis of Mutilating Vohwinkel palmo-plantar keratoderma with deafness Laboratoire de biologie cutanée Service de Dermatologie - CHUV/FBM Hôpital de Beaumont, BT - 437 Lausanne Switzerland 1011 Prof. Daniel Hohl daniel.hohl@chuv.ch Histology/ Immunohistochemistry of Epithelial Adhesion Disorders Electron microscopy of Epithelial Adhesion Disorders Biochemical diagnosis of Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma Biochemical diagnosis of X-linked recessive ichthyosis Molecular diagnosis of Erythrocheratodermia variabilis Molecular diagnosis of Keratitis-ichthyosis-deafness syndrome Molecular diagnosis of Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma Molecular diagnosis of Mutilating Vohwinkel palmo-plantar keratoderma with deafness Molecular diagnosis of Mutilating Vohwinkel palmo-plantar keratoderma without deafness Molecular diagnosis of X-linked recessive ichthyosis	Laboratoire de Biologie cutanée Service de Dermatologie - CHUV/FBM Hôpital de Beaumont, BT - 437 Lausanne Suisse 1011 Prof. Daniel Hohl daniel.hohl@chuv.ch *Research activities on:* Inducible organotypic model of Lamellar Ichthyosis Research activities on: Inducible organotypic model of Bullous Cogenital Ichthyosiform Erythroderma

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 m.c.bolling@umcg.nl Department of Clinical Genetics Dr. P.C. Van den Akker, MD PhD, Clinical Geneticist p.c.van.den.akker@umcg.nl Outpatient Clinic for Genodermatoses and multidisciplinary clinics for Epidermolysis Bullosa. 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.	University Medical Center Groningen, Rijksuniversiteit Groningen Postbus 30.001 9700 RB Groningen, The Netherlands Department of Dermatology Dr. M.C. Bolling, MD PhD, dermatologist m.c.bolling@umcg.nl 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 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.	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

UNITED KINGDOM
CLINICAL CENTER	DIAGNOSTIC CENTER	RESEARCH CENTER
Alan Lyell Dermatology Centre Southern General Hospital Address Glasgow G51 4TF UK Prof. Colin Munro colin.munro@clinmed.gla.ac.uk Outpatient clinic for Genodermatoses or rare diseases (all except for Chanarin-Dorfmann, Harlequin type ichthyosis congenita, Ichthyosis of Siemens, Keratitis-Ichthyosis-Deafness syndrome, Refsum disease, Sjogren-Larsson syndrome and X-linked ichthyosis) Department of Dermatology Royal London Hospital London E1 1BB UK Professor Edel O’Toole e.a.otoole@qmul.ac.uk 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 in children and adults (for all forms of ichthyosis, epidermolytic ichthyosis, Darier disease, Hailey-Hailey disease, erythrokeratodermas, palmoplantar keratodermas, ectodermal dysplasia, other disorders of cornification). Monthly combined clinic with clinical genetics for disorders including skin as part of more complex phenotypes.	East of Scotland Regional Genetics Service Ninewells Hospital DD1 9SY Dundee UK Dr Norman Pratt Keiko Asakura TAY.esrg@nhs.scot Genetic testing for Autosomal recessive congenital ichthyosis (ARCI), Lamellar ichthyosis, Non-bullous ichthyosis (NBCIE), Bullous congenital ichthyosiform erythroderma (BCIE), Dowling-Degos disease (DDD), epidermolysis bullosa simplex (EBS), epidermolytic palmoplantar keratoderma (EPPK), Focal palmar plantar keratoderma (FPPK), Ferguson-Smith disease, Ichthyosis bullosa of Siemens (IBS), Ichthyosis vulgaris, Naegeli-Franceschetti-Jadassohn syndrome (NFJS), Pachyonychia congenita (PC) and Peeling skin syndrome. 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 Histology/ Immunohistochemistry of Harlequin type ichthyosis congenita Histology/ Immunohistochemistry of Lamellar ichthyosis Molecular analysis of Erythrokeratodermia variabilis Molecular analysis of Harlequin type ichthyosis congenita Molecular analysis of Keratitis-ichthyosis-deafness syndrome Molecular analysis of Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma Molecular analysis of Mutilating Vohwinkel palmo-plantar keratoderma with deafness 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 Trish Dopping-Hepenstal trish.dopping-hepenstal@gsts.com Histology/ Immunohistochemistry of Bullous congenital ichthyosiform erythroderma Electron microscopy of Bullous congenital ichthyosiform erythroderma Electron microscopy of Harlequin type ichthyosis congenita Electron microscopy of Lamellar Ichthyosis/Non-bullous congenital ichthyosiform erythroderma Molecular analysis of Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma	Centre for Cell Biology and Cutaneous Research Blizard Institute 4 Newark St London E1 2AT Professor Edel O’Toole e.a.otoole@qmul.ac.uk 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 Research activities on: Experience of ex vivo gene therapy for nether ton syndrome 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 Research activities on: Biology of ABCA12 Department of Dermatology, University of Glasgow University of Glasgow Robertson Building Glasgow UK G12 8QQ Prof. Colin Munro colin.munro@clinmed.gla.ac.uk *Project title:* Clinical and molecular studies of mechanism of keratoderma