CENTRE REGISTRATION FORM

This form is intended for registration of Centres which offer specialized clinical and/or diagnostic services, and/or carry out research projects for selected diseases or for a group of diseases belonging to the GENESKIN website.

I. Institution information

Department/Division/Laboratory name

Institution

Address

City

Country

Zip/postal code

Website (optional)

Director/Responsible person

Title:

First Name:

Last Name

e-mail (optional)

Contact person

Title:

First Name

Last Name

Phone number (optional)

Fax number

e-mail

II. Disease information

Please cross in the following list the box(es) corresponding to the disease(s) for which your Department/Laboratory offers:

1.  specific clinical services and the type(s) of services offered among the following:

Outpatient clinic for a specific disease or disease group

Outpatient clinic for genodermatoses/rare diseases

Outpatient clinic for pediatric dermatology

Other (e.g. metabolic, oncology etc) (please specify).

2.  specific diagnostic services and the type(s) of services offered among the following:

Histology/immunopathology diagnosis

Electron microscopy diagnosis

Molecular diagnosis

Other (e.g. cell biology diagnosis, biochemical diagnosis, etc) please specify

3.  research activities and insert the research title/topic.

Please select only the diseases in which you are specialized.

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III. Disease/Disease group List

/ OUTPATIENT CLINIC / DIAGNOSTIC SERVICES / RESEARCH
/ Specific disease/
disease group / Geno-dermatoses/
rare diseases / Pediatric dermatology / Other
(specify) / Histology/
Immuno-pathology / Electron micro-scopy / Molecular / Other (specify) / Topic/project title

EPITHELIAL ADHESION

DISORDERS

Epidermolysis bullosa, dystrophic / q  COL7A1
Epidermolysis bullosa, junctional / q  COL17A1
q  LAMA3
q  LAMB3
q  LAMC2
q  ITGB4
q  ITGA6
Epidermolysis bullosa, simplex / q  KRT5
q  KRT14
q  PLEC1
q  DSP
q  PKP1
q  DST
q  JUP
Kindler syndrome / q  FERMT1

KERATINIZATION DISORDERS

Chanarin-Dorfman syndrome / q  CGI58
Darier disease / q  ATP2A2
Epidermolytic ichthyosis / q  KRT1
q  KRT10
Erythrokeratodermia variabilis / q  GJB3
q  GJB4

Hailey-Hailey disease

/

q  ATP2C1

Harlequin ichthyosis / q  ABCA12

Keratitis-ichthyosis-deafness syndrome

/

q  GJB2

q  GJB6

Jackson-Lawley syndrome (pachyonychia congenita type 2) / q  KRT6B
q  KRT17
Jadassohn-Lewandowsky syndrome (pachyonychia congenita type 1) / q  KRT6A
q  KRT16
Lamellar ichthyosis/ Congenital ichthyosiform erythroderma / q  ABCA12
q  ALOX12B
q  ALOXE3
q  CYP4F2
q  NIPAL4
q  TGM1
Mutilating Vohwinkel palmo-plantar keratoderma with deafness / q  GJB2
Mutilating Vohwinkel palmo-plantar keratoderma without deafness / q  loricrin
Netherton syndrome / q  LEKTI
Refsum disease / q  PAHX
q  PEX7
Sjögren Larsson syndrome / q  ALDH3A2
Superficial epidermolytic ichthyosis / q  KRT2
X-linked recessive ichthyosis / q  STS

ECTODERMAL DYSPLASIAS

Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) / q  TP63
Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC syndrome) / q  TP63
Arthrogryposis and ectodermal dysplasia
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) / q  AIRE
Basan syndrome
Cartilage-hair hypoplasia syndrome / q  RMPR
Cleft lip/palate-ectodermal dysplasia syndrome / q  PVLR1
Congenital hypotrichosis with juvenile macular dystrophy / q  CDH3
Congenital insensitivity to pain with anhidrosis / q  NTRK1
Corneodermatoosseous syndrome
Cranioectodermal syndrome / q  IFT122
Curly hair-ankyloblepharon-nail dysplasia (CHANDS)
Cronkhite-Canada syndrome
Dyskeratosis congenita / q  DKC1
q  TERC
Ectodermal dysplasia, pure hair and nail type / q  KRT85
Ectodermal dysplasia, skin fragility syndrome (McGrath syndrome) / q  PKP1
Ectodermal dysplasia, with ectrodactyly and macular dystrophy / q  CDH3
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (EEC syndrome) / q  TP63
Ellis-van Creveld syndrome / q  EVC1
q  EVC2
Focal dermal hypoplasia syndrome / q  PORCN
Growth retardation-alopecia-pseudoanodontia-optic atrophy (GAPO syndrome)
Hallermann-Streiff syndrome
Heimler syndrome
Hidrotic ectodermal dysplasia (Clouston syndrome) / q  GJB6
Hypohidrotic ectodermal dysplasia / q  EDA
q  EDAR
q  EDARADD
Hypohidrotic ectodermal dysplasia, with immune deficiency / q  NFKBIA
q  IKBKG (NEMO)
Hypohidrotic ectodermal dysplasia, with immune deficiency, osteopetrosis and lymphoedema / q  IKBKG (NEMO)
Hypohidrotic ectodermal dysplasia, with hypothyroidism and ciliary dyskinesia
Hypohidrotic ectodermal dysplasia with hypothyroidism and agenesis of the corpus callosum
Incontinentia pigmenti / q  IKBKG (NEMO)
Johanson-Blizzard syndrome / q  UBR1
Johnson neuroectodermal syndrome
Limb-mammary syndrome / q  TP63
Mucoepithelial dysplasia, hereditary
Marshall syndrome / q  COL11A1
Naegeli syndrome / q  KRT14
Oculodentodigital displasia (ODDD) / q  GJA1
Odontoonychodermal dysplasia / q  WNT10A
Odontotrichomelic syndrome
Onychotrichodysplasia and neutropenia
Orofaciodigital syndrome, type I (OFD1) / q  CXORF5 (OFD1)
Rapp-Hodgkin syndrome / q  TP63
Rothmund-Thomson syndrome / q  RECQL4
Scalp-ear-nipple syndrome
Schopf-Schulz-Passarge syndrome / q  WNT10A
Taurodontia, absent teeth and sparse hair
Trichodental dysplasia
Trichodentoosseous syndrome / q  DLX3
Ulnar mammary syndrome / q  TBX3
Witkop syndrome / q  MSX1
Weyer acrofacial dysostosis / q  EVC1

CONNECTIVE TISSUE DISORDERS

Cutis laxa, hereditary / q  ATP7A
q  ATP6V0A2
q  ELN
q  FBLN4 (EFEMP2)
q  FBLN5
q  PYCR1
Ehlers-Danlos syndrome, arthrochalasis type / q  COL1A1
q  COL1A2
Ehlers-Danlos syndrome, classic type / q  COL5A1
q  COL5A2
Ehlers-Danlos syndrome, dermatosparaxis type / q  ADAMTS2
Ehlers-Danlos syndrome, hypermobility type / q  TNXB
Ehlers-Danlos syndrome, kyphoscoliotic type / q  PLOD1
Ehlers-Danlos syndrome, unclassified variants
Ehlers-Danlos syndrome, vascular type / q  COL3A1
Lipoid proteinosis / q  ECM1
Pseudoxanthoma Elasticum / q  ABCC6
DNA-REPAIR DISORDERS
Cockayne syndrome / q  CSA
q  CSB
Trichothiodystrophy / q  XPD (ERCC2)
q  XPB (ERCC3)
q  TFB5 (GTF2H5)
q  C7orf11
Xeroderma pigmentosum / q  POLH
q  XPA
q  XPB (ERCC3)
q  XPC
q  XPD (ERCC2)
q  XPE (DDB2)
q  XPF (ERCC4)
q  XPG (ERCC5)

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