Inherited bullous diseases

Abstract

Key Features: Inherited bullous diseases represent a heterogeneous group of rare skin disorders, caused by mutations in genes encoding proteins or protein subunits important for the mechanical resistance of keratinocytes and for cell-cell or cell-extracellular matrix adhesion of the epidermis. The hereditary epidermolysis bullosa (EB) is the main disease group in which blistering is the major symptom. The common symptoms are skin blistering or peeling, with various degrees of severity and distribution, ranging from localized to generalized forms. Associated features include involvement of skin annexes, mucous membranes, teeth, muscles, or the digestive tract. Morphological investigation of skin samples provides evidence for the level of blister formation within the epidermis or the subepidermal basement membrane zone, while immunostaining reveals information on both the precise level of tissue separation and defective proteins, providing clues concerning the molecular basis of the disease. Extensive mutation analysis and subsequent identification of gene defects provide accurate diagnostics, and lead to better understanding of the functions of the respective proteins, with the potential for new therapeutic strategies. No definitive cure is available for patients with EB at present. Protection against trauma, wound care, surgical correction of complications, adapted nutrition, and psychological support are important. Molecular therapies may represent a potential long-term treatment for these diseases. © 2010 Springer-Verlag Berlin Heidelberg.