Keratinization Disorders - Specialized Centers

Keratinization Disorders - Specialized Centers

AUSTRIA
CLINICAL CENTER	DIAGNOSTIC CENTER	RESEARCH 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 Salzburger Landeskliniken Molecular Dermatology/EB House Austria Müllner Hauptstraße 48 Salzburg Austria 5020 Salzburg Prof. Dr. Johann Bauer Lydia Stremnitzer L.Stremnitzer@salk.at Outpatient clinic for Keratinization Disorders	Department of Dermatology Innsbruck Medical University Anichstr. 35 Innsbruck Austria 6020 Prof. Matthias Schmuth Dr. Robert Gruber r.gruber@i-med.ac.at Electron microscopy of Mutilating Vohwinkel palmo-plantar keratoderma with deafness Electron microscopy of Netherton syndrome Electron microscopy of X-linked recessive ichthyosis Salzburger Landeskliniken/Molecular Dermatology Diagnostic Laboratory Müllner Hauptstraße 48 Salzburg AUustria 5020 Salzburg Prof. Dr. Johann Bauer Dr. Gabriela Pohla-Gubo G.Pohla-Gubo@salk.at Molecular diagnosis of Bullous congenital ichthyosiform erythroderma Molecular diagnosis of Darier disease Molecular diagnosis of Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma Molecular diagnosis of Netherton syndrome	Department of Dermatology Innsbruck Medical University Anichstr. 35 Innsbruck Austria 6020 Prof. Matthias Schmuth Dr. Robert Gruber r.gruber@i-med.ac.at *Project title:* Characterization and mapping of genes adjacent to the STS locus

CZECH REPUBLIC
CLINICAL CENTER	DIAGNOSTIC CENTER	RESEARCH 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 (for Bullous congenital ichthyosiform erythroderma, Darier disease, Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma, and X-linked ichthyosis)

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 Bordeaux France 33076 cedex Prof. Alain Taïeb alain.taieb@chu-bordeaux.fr Outpatient clinic for Genodermatoses or rare diseases Outpatient clinic for Pediatric dermatology 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@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	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 Biochimie Métabolique CHU Toulouse Institut Fédératif de Biologie 330 Avenue de Grande-Bretagne, TSA 40031 31059 Toulouse France Prof. Thierry Levade levade.t@chu-toulouse.fr Biochemical analysis of Chanarin-Dorfman syndrome Biochemical analysis of Refsum disease Biochemical analysis of X-linked recessive ichthyosis 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	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@nck.aphp.fr *Project title:* Clinical, immunohistochemical analysis and research of a genotype/phenotype correlation (Netherton syndrome)

GERMANY
CLINICAL CENTER	DIAGNOSTIC CENTER	RESEARCH CENTER
Department of Dermatology University of Cologne Kerpener Strasse 62 50931 Köln Germany Meral Arin meral.arin@uk-koeln.de Outpatient clinic for genodermatoses or rare diseases (Bullous congenital ichthyosiform erythroderma, Darier disease, Hailey-Hailey disease and Ichthyosis of Siemens) 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 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. Leena Bruckner-Tuderman Daniela Kirstein eb-zentrum@uniklinik-freiburg.de Outpatient clinic for Genodermatoses or rare diseases (for Sjögren Larsson syndrome) 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 Department of Dermatology Ludwig Maiximilian University Munich Frauenlobstr. 9-11 80337 München PD Dr. Markus Braun-Falco markus.braun-falco@med.uni-freiburg.de Outpatient clinic for genodermatoses and rare skin diseases Outpatient clinic for Keratinization Disorders 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 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) Molecular analysis of X-linked recessive ichthypsis (STS) Molecular analysis of Nehterton syndrome (SPINK5) Molecular analysis of ichthyosis vulgaris (FLG) 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 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 Prof. Leena Bruckner-Tuderman Daniela Kirstein eb-zentrum@uniklinik-freiburg.de Molecular analysis of Erythrokeratodermia variabilis Molecular analysis of Keratitis-ichthyosis-deafness syndrome Department of Dermatology University of Cologne Kerpener Strasse 62 50931 Köln Germany Meral Arin meral.arin@uk-koeln.de Molecular diagnosis of Bullous congenital ichthyosiform erythroderma Molecular diagnosis of Ichthyosis of Siemens Division of Dermatogenetics, Cologne Center for Genomics Institution University of Cologne Weyertal 115b 50931 Köln Germany Dr. Hans Christian Hennies hhennies@uni-koeln.de Molecular analysis of Erythrokeratodermia variabilis Molecular analysis of Keratitis-ichthyosis-deafness syndrome Molecular analysis of Autosomal recessive congenital ichthyosis (Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma) Molecular analysis of Mutilating Vohwinkel palmo-plantar keratoderma with deafness Molecular analysis of Mutilating Vohwinkel palmo-plantar keratoderma without deafness (loricrin) EM-Labor Universitats-Hautklinik Vossstr. 2 Heidelberg Germany 69115 Dr. Ingrid Hausser Ingrid.Hausser@med.uni-heidelberg.de Electron microscopy of Bullous congenital ichthyosiform erythroderma Electron microscopy of Chanarin-Dorfman syndrome Electron microscopy of Darier disease Electron microscopy of Erythrokeratodermia variabilis Electron microscopy of Hailey-Hailey disease Electron microscopy of Harlequin type ichthyosis congenita Electron microscopy of Keratitis-ichthyosis-deafness syndrome Electron microscopy of Ichthyosis of Siemens Electron microscopy of Pachyonychia congenita type 2 Electron microscopy of Pachyonychia congenita type 1 Electron microscopy of Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma Electron microscopy of Netherton syndrome Klinik für Dermatologie und Venerologie der Universität zu Köln LFI Gebäude 5/504 PD Dr. Meral Arin c/o Frau Schaffrath/Frau Wodecki Kerpener Str. 62 50937 Köln meral.arin@uk-koeln.de Molecular diagnosis of congenital bullous ichthyosiform erythroderma Molecular diagnosis of Ichthyosis bullosa Siemens Institute of Human Genetics University Clinic of Freiburg Breisacher Str. 33 79106 Freiburg i. Br. Germany Prof. Dr. med. Dr. rer. nat Judith Fischer judith.fischers@uniklinik-freiburg.de Mutation diagnosis for all ARCI genes, and other genes involved in genodermatoses 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	Department of Dermatology University Hospital Von-Esmarch-Str. 58 Muenster Germany 48149 Dr. Heiko Traupe traupeh@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 Department of Dermatology University of Cologne Kerpener Strasse 62 50931 Köln Germany Meral Arin meral.arin@uk-koeln.de *Project title:* Regulation of keratin 9 expression (for Bullous congenital ichthyosiform erythroderma) 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. rer. nat. 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
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 (Bullous congenital ichthyosiform erythroderma, Darier disease, Erythrokeratodermia variabilis, Hailey-Hailey disease, Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma, Netherton syndrome, Sjogren-Larsson syndrome, X-linked recessive ichthyosis) 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) 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	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 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 Bullous congenital ichthyosiform erythroderma Histology/Immunohistochemistry of Darier disease Histology/Immunohistochemistry of Erythrokeratodermia variabilis Histology/Immunohistochemistry of Hailey-Hailey disease Histology/Immunohistochemistry of Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma Histology/Immunohistochemistry of Netherton syndrome Histology/Immunohistochemistry of Sjogren-Larsson syndrome Histology/Immunohistochemistry of X-linked recessive ichthyosis Electron microscopy of Bullous congenital ichthyosiform erythroderma Electron microscopy of Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma Electron microscopy of Netherton syndrome Electron microscopy of Sjogren-Larsson syndrome Electron microscopy of X-linked recessive ichthyosis 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 Medical Genetics Service IRCCS "CSS" Hospital Viale Cappuccini San Giovanni Rotondo Italy Dr. Leopoldo Zelante zelante@operapadrepio Molecular diagnosis of X-linked recessive ichthyosis 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	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 - Genodermatosis 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 (all except for Chanarin-Dorfmann, Ichthyosis of Siemens, Mutilating Vohwinkel palmo-plantar keratoderma without deafness, and Refsum disease)

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 Dr. Marcel Huber marcel.huber@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 Dr. Marcel Huber marcel.huber@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
Department of 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	Dermatology University Medical Centre Groningen Hanzeplein 1 Groningen the Netherlands 9700 RB Prof. Marcel F. Jonkman m.f.jonkman@derm.umcg.nl Electron microscopy of Hailey-Hailey disease Electron microscopy of Ichthyosis of Siemens J Electron microscopy of Pachyonychia congenita type 2 Electron microscopy of Pachyonychia congenita type 1 Electron microscopy of Sjögren Larsson syndrome Electron microscopy of X-linked recessive 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) 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 Bullous congenital ichthyosiform erythroderma, Erythrokeratodermia variabilis, Harlequin type ichthyosis congenita, KID syndrome, pachyonychia congenita type 2, Mutilating Vohwinkel palmo-plantar keratoderma with deafness, Mutilating Vohwinkel palmo-plantar keratoderma without deafness, Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma and Sjogren-Larsson syndrome ) 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 Outpatient clinic for pediatric dermatology (for Bullous congenital ichthyosiform erythroderma, Chanarin-Dorfman syndrome, Darier disease, Erythrokeratodermia variabilis, Hailey-Hailey disease, Harlequin type ichthyosis congenital, Keratitis-ichthyosis-deafness syndrome, Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma, Netherton syndrome, and X-linked recessive ichthyosis)	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 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 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 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

European Dermatology Forum