Epidermolisys bullosa hereditaria – case report

Epidermolisys bullosa (EB) is a group of rare, genetically determined skin diseases. Its incidence is approximately10-30 cases per million. This is disorder of ectoderm tissue with an unknown etiology, characterized by a susceptibility to damage of epidermis and epithelium with induce of blister formation after minor trauma or pressure [1, 2].

EB´s are divided into three groups according to their pathogenetic mechanisms: epidermolysis bullosa simplex (EBS), dystrophic epidermolisys bullosa (DEB) and junctional epidermolisys bullosa (JEB). The severity of EB depends upon the type of underlying defect [3, 4].

Epidermolysis bullosa simplex is characterized by the intraepidermal blister formation, among the basal keratinocytes, most commonly appearing in an early infancy. The disease is inherited recessively or dominantly, depending on the disease subtype.

EBS´s are characterized by bullae formation secondary to friction, minor trauma or sweating combined with an elevated body temperature. Healing of vesicles occurs without scarring. There are several varieties of EBS. The most common is localized EBS (Weber-Cockayne´s) which is the mildest form of disease and may appear in adolescence. Generalized EBS (Koebner´s) variant appears at birth or early infancy. Herpetiform EBS (Dowling-Meara´s) appears at birth as generalized blistering disorder (fig. 1). Oral changes are common in this subtype [1, 5, 6,].

Epidermolysis bullosa dystrophica is characterized by the subepidermal blister formation.

Blisters commonly heal with scarring and milla formation. There are four forms of the disease. The autosomal dominant DEBs are: Cockayne-Touraine´s and Passini´s variants. The two autosomal recessive forms are: localized recessive DEB and generalized recessive DEB (Hallopeau-Simens´s variant). The Hallopeau-Simens´s variant is the severe form of the disease, which begins at birth with generalized blistering and heals with the formation of cicatrices (Fig. 2). Severe form with oral involvement affects the teeth and leads to dental destruction [1, 7, 8].