AUSTRIA
Dermatology
Innsbruck Medical University
Anichstr.
35
Innsbruck
Austria
A6020
Prof. Matthias
Schmuth
Dr. Robert Gruber
r.gruber@uibk.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
AUSTRIA
5020 Salzburg
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
FRANCE
Department of Medical Genetics
Purpan
Hospital
Pavillon Lefebvre
31024
Toulouse
France
Prof. Alain Hovnanian
alain.hovnanian@toulouse.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
Dermatologic Diseases
Centre National de Génotypage
2
rue Gaston Crémieux
91057 Evry
France
Prof. Mark
Lathrop
Dr. Judith Fischer
fischer@cng.fr
Molecular analysis of Chanarin-Dorfman
syndrome
Molecular analysis of Harlequin type ichthyosis
congenita
Molecular analysis of Lamellar
ichthyosis/non-bullous congenital ichthyosiform
erythroderma
Molecular analysis of X-linked recessive
ichthyosis
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. Mcuph Claude
Wolf
Wolf@Ccr.Jussieu.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
Dr. Hadj Rabia
Hadj-Rabia@necker.fr
Histology/Immunohistochemistry of Keratinization
Disorders
Electron microscopy of Keratinization
Disorders
GERMANY
Center for Human Genetics Freiburg
Heinrich-von-Stephan-Str. 5
Freiburg
Germany
79100
Prof. Jürgen Kohlhase
jkohlhase@humangenetik-freiburg.de
Molecular diagnosis of Erythrokeratodermia variabilis
Molecular diagnosis of Keratitis-ichthyosis-deafness syndrome
Department of Dermatology
University
Hospital
Von-Esmarch-Str.
58
Muenster
Germany
48149
Prof. Heiko
Traupe
Dr. Vinzenz Oji
Vinzenz.oji@ukmuenster.de
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 Harlequin type
ichthyosis congenita
Histology/Immunohistochemistry of
Keratitis-ichthyosis-deafness
syndrome
Histology/Immunohistochemistry of Ichthyosis of
Siemens
Histology/Immunohistochemistry of Lamellar
ichthyosis/Non-bullous congenital ichthyosiform
erythroderma
Histology/Immunohistochemistry of Netherton
syndrome
Histology/Immunohistochemistry of Sjögren Larsson
syndrome
Histology/Immunohistochemistry of X-linked
recessive ichthyosis
Biochemical analysis of Lamellar
ichthyosis/Non-bullous congenital ichthyosiform
erythroderma
Department of Dermatology
University Medical Center
Freiburg
Hauptstraße 7
79104 Freiburg i.
Br.
Germany
Prof. Leena Bruckner-Tuderman
Daniela
Kirstein
eb-zentrum@haut.ukl.uni-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
Zülpicher
Str. 47
50674 Köln
Germany
Dr. Christian Hennies
hhennies@uni-koeln.de
Molecular analysis of Erythrokeratodermia
variabilis
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
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 of the University Erlangen-Nuremberg
Molecular Genetics Laboratory
Schwabachanlage 10
91054 Erlangen
Prof. Dr. André Reis,
reis@humgenet.uni-erlangen.de
Dr. rer. nat. Cornelia Kraus
cornelia.kraus@humgenet.uni-erlangen.de
Molecular diagnosis of Sjoegren-Larsson syndrome
Zentrum fuer Humangenetik
Philipps-Universitaet
Marburg
Bahnhofstrasse
7
Marburg
Germany
35037
Prof. Karl-Heinz Grzeschik
grzeschi@staff.uni-marburg.de
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
HUNGARY
Department of Dermatology, Venerology and Dermatooncology
Semmelweis University
Mária str. 41
Budapest
Hungary
H-1085
Prof Sarolta Kárpáti
Dr. Marta Medvecz-Csikós
csimar@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
ITALY
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
SWITZERLAND
Division of Human Genetics / Dept. of Paediatrics
Inselspital / University of Bern
Freiburgstrasse
Bern
Switzerland
CH-3010
Prof. Sabina Gallati
Dr. Franziska Joncourt
franziska.joncourt@dkf.unibe.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
THE NETHERLANDS
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
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
Lambeth Palace Road
London SE1
7EH
UK
Prof. John McGrath
Trish Dopping-Hepenstal
trish.dopping-hepenstal@kcl.ac.uk
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 |
