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
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
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 Gene Therapy (CMBGT)
Faculty Hospital Brno, Masaryk University Brno
Jihlavská 20
62500 Brno
Czech Republic
Lenka Fajkusová, Assist. Prof., Ph.D.
lfajkusova@fnbrno.cz
Lenka Kopecková, Ph.D.
lenka.kopeckova@fnbrno.cz
Romana Borská, Mgr.
romana.borska@fnbrno.cz
Molecular diagnosis of Genodermatoses and rare diseases

Centre of Molecular Biology and Gene Therapy (CMBGT)
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
 

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

 

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@nck.aphp.fr
Project title: Clinical, immunohistochemical analysis and research of a genotype/phenotype correlation (Netherton syndrome)

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
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. 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
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
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
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

 

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. 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

 

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
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

Unit of Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna,
via Massarenti 1
Bologna
40138 Italy
Prof. Annalisa Patrizi
Dr. Iria Neri 
iria.neri@aosp.bo.it 
Outpatient clinic for Genodermatoses or rare diseases 
(Autoimmune polyendocrinopathy-candiasis-ectodermal dystrophy syndrome, Cleft lip/palate-ectodermal dysplasia syndrome, Clouston syndrome, Dyskeratosis congenita, Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome, Focal dermal hypoplasia syndrome, Incontinentia pigmenti, Orofaciodigital syndrome type I, Rapp-Hodgkin syndrome, Rothmund-Thomson syndrome, Trichodental dysplasia, Epidermolysis bullosa, Ichthyosis, Vascular anomalies and others)

 

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
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
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
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
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
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 or rare diseases
Performance of molecular diagnostics for all ectodermal dysplasias with WES and a filter for ED related genes. Our dentistry department is specialized in ED as well.
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 or rare diseases
Performance of molecular diagnostics for all ectodermal dysplasias with WES and a filter for ED related genes. Our dentistry department is specialized in ED as well.

 

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
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
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 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 Cell Biology and Cutaneous Research
Blizard Institute
4 Newark St
London E1 2AT
Professor Edel O’Toole
 
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 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