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.

  • A general area (Diseases) is available to patients, their relatives and the general public. 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 website
  • A more specific access area is provided for additional information on diseases (Information for Professionals). 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.
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
Mutilating Vohwinkel palmo-plantar keratoderma without deafness
Mutilating Vohwinkel palmo-plantar keratoderma with deafness
Naegeli syndrome
Netherton syndrome
Pachyonychia congenita
Palmoplantar Keratoderma
Pseudoxanthoma Elasticum
Rapp-Hodgkin syndrome
Refsum disease
Rothmund-Thomson syndrome
Sjögren Larsson syndrome
Superficial Epidermolytic Ichthyosis
UV-sensitive syndrome
Xeroderma pigmentosum
X-linked recessive ichthyosis