Diseases
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 |
| Monilethrix |
| 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 |
| Trichothiodystrophy |
| UV-sensitive syndrome |
| Xeroderma pigmentosum |
| X-linked recessive ichthyosis |
