Geneskin

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This section deals with the various clinical, laboratory and social aspects of the diseases in the five major groups of disorders (i.e. ectodermal dysplasias, and disorders of epithelial adhesion, keratinisation, connective tissue and DNA repair). Information on these pages is divided into two sub-sections.

  • As a free user, particularly patients and their relatives, you will see a general description of each of the five major groups of disorders, together with details of European centres offering clinical, diagnostic and research services, ongoing clinical trials, patients' associations and related websites.
  • As a registered user you will get more details: each disease has a dedicated page with more detailed clinical and laboratory descriptions, including key clinical features, diagnostic tests and procedures, tools for laboratory diagnosis. Research services, ongoing clinical trials, patients' associations and related websites are also reported. To become a registered user you need first to perform the registration, which in an automated task. Only after confirmation, signing into the website, you will get automatically access to the restricted informations. 
Disease type/subtype
Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome)
Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC syndrome)
Annular Epidermolytic Ichthyosis
Cartilage-hair hypoplasia syndrome
Chanarin-Dorfman syndrome
CHILD syndrome
Clouston syndrome
Cockayne syndrome
Congenital hypotrichosis with juvenile macular dystrophy
Congenital reticular ichthyosiform erythroderma
Cutis laxa, hereditary
Darier disease
Dowling-Degos disease
Ectodermal dysplasia, pure hair and nail type
Ectodermal dysplasia, skin fragility syndrome
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (EEC syndrome)
Ehlers-Danlos syndrome, arthrochalasis type
Ehlers-Danlos syndrome, classic type
Ehlers-Danlos syndrome, dermatosparaxis type
Ehlers-Danlos syndrome, hypermobility type
Ehlers-Danlos syndrome, kyphoscoliotic type
Ehlers-Danlos syndrome, vascular type
Epidermolysis bullosa dystrophic, dominant, acral
Epidermolysis bullosa dystrophic, dominant, bullous dermolysis of the newborn
 Epidermolysis bullosa dystrophic, dominant, generalized
 Epidermolysis bullosa dystrophic, dominant, nails only
Epidermolysis bullosa dystrophic, dominant, pretibial
Epidermolysis bullosa dystrophic, dominant, pruriginosa
Epidermolysis bullosa recessive dystrophic severe generalized
Epidermolysis bullosa recessive dystrophic generalized others
Epidermolysis bullosa recessive dystrophic, bullous dermolysis of newborn
Epidermolysis bullosa recessive dystrophic, centripetalis
Epidermolysis bullosa recessive dystrophic, inversa
Epidermolysis bullosa recessive dystrophic, pretibial
Epidermolysis bullosa recessive dystrophic, pruriginosa
Epidermolysis bullosa junctional, Herlitz
Epidermolysis bullosa junctional, non-Herlitz
 Epidermolysis bullosa junctional, other
Epidermolysis bullosa junctional, with pyloric atresia
 Epidermolysis bullosa simplex, autsomal recessive
Epidermolysis bullosa simplex, Dowling-Meara
Epidermolysis bullosa simplex generalized others
Epidermolysis bullosa simplex localized
 Epidermolysis bullosa simplex, migratory circinate erythema
Epidermolysis bullosa simplex, with mottled pigmentation
Epidermolysis bullosa simplex, with muscular dystrophy
Epidermolytic Ichthyosis
Erythrokeratodermia variabilis
Focal dermal hypoplasia syndrome
Hailey-Hailey disease
Harlequin type ichthyosis congenita
Hypohidrotic ectodermal dysplasia
Hypohidrotic ectodermal dysplasia, with immune deficiency
Hypohidrotic ectodermal dysplasia, with immune deficiency, osteopetrosis and lymphoedema
Ichthyosis hystrix of Curth-Macklin
Incontinentia pigmenti
Keratitis-ichthyosis-deafness syndrome
Kindler syndrome
Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma
Laryngo-onycho-cutaneous (LOC) syndrome
Limb-mammary syndrome
Lipoid proteinosis
Monilethrix
Mutilating Vohwinkel palmo-plantar keratoderma without deafness
Mutilating Vohwinkel palmo-plantar keratoderma with deafness
Naegeli syndrome
Netherton syndrome
Pachyonychia congenita type 1
Pachyonychia congenita type 2
Palmoplantar Keratoderma 
Pseudoxanthoma Elasticum
Rapp-Hodgkin syndrome
Refsum disease
Rothmund-Thomson syndrome
Sjögren Larsson syndrome
Superficial Epidermolytic Ichthyosis
Trichothiodystrophy
UV-sensitive syndrome
Xeroderma pigmentosum
X-linked recessive ichthyosis