Definition: a heterogeneous group of hereditary skin disorders characterized by blistering of the skin and mucous membranes, following minor trauma

Classification based on the level of blister formation in the dermal-epidermal junction zone:

- EB simplex: intraepidermal blistering
- EB junctional: junctional blistering
- EB dystrophic: dermal blistering and scarring
- Kindler syndrome: special form of EB

EB Simplex - subtypes
- EBS Weber-Cockayne: mutations in the gene coding keratin 5, keratin 14
- EBS Koebner: mutations in the gene coding keratina 5, keratina 14
- EBS Dowling-Meara: mutations in the gene coding keratina 5, keratina 14
- EBS with muscular distrophy: mutations in the gene coding plectin

EB Junctional - subtypes
- EBJ Herlitz: mutations in the gene coding laminin 5
- EBJ non-Herlitz: mutations in the gene coding laminin 5 and colagen XVII
- EBJ with piloric atresy: mutations in the gene coding integrin α6β4

EB dystrophic - subtypes
- dominant EBD
- recessive EBD Hallopeau-Siemens
- recessive EBD non-Hallopeau-Siemens

Clinical aspects

 

- Blistering of the skin and mucous membranes
- Contractures of articulations
- Mutilations
- Nevi
- Squamous carcinoma
- Nail dystrophy
- Teeth dystrophy
- Opthalmological problems
- Afflictions of the urinary tract and genitals
- Malnutrition
- Growth retardation
- Deficite of vitamins, proteins, minerals
- Anemia

 

Treatment

1.1.Treatment of skin lesions
- treatment and prevention of skin infections
- non adherent patches
- skin allografts
2.Correction of nutritional deficiencies
3.Treatment of the mouth afflictions
- rigorous oral hygiene, stomathological supervision
- semi liquid alimentation
4.Diet
- food rich in calories, vitamins and minerals
5.Treatment of complications
- Esophageal dilations
- surgical corrections of the hands
- excision of squamous carcinoma
6.Genetic advice for prevention
7.Psichological support
8.Support from national and international organizations
9.Etiological treatment
- ex vivo gene therapy
- normal gene transfer in keratinocites/fibroblasts