AUSTRIA
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH 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 CENTERDIAGNOSTIC CENTERRESEARCH 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 CENTERDIAGNOSTIC CENTERRESEARCH 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, 3rd 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 CENTERDIAGNOSTIC CENTERRESEARCH 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 CENTERDIAGNOSTIC CENTERRESEARCH 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 CENTERDIAGNOSTIC CENTERRESEARCH 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 CENTERDIAGNOSTIC CENTERRESEARCH 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 CENTERDIAGNOSTIC CENTERRESEARCH 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 CENTERDIAGNOSTIC CENTERRESEARCH 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 CENTERDIAGNOSTIC CENTERRESEARCH 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 CENTERDIAGNOSTIC CENTERRESEARCH 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 CENTERDIAGNOSTIC CENTERRESEARCH 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