Inherited epidermolysis bullosa (EB) encompasses a group of rare genetic disorders of the epidermal and dermal-epidermal junction complex, characterized by fra- gility of the skin and the mucous membranes, causing blistering and erosions after minor injury. The different types of EB present extreme phenotype variability; while some are mild, chronic and compatible with life, others are severe and associated with complications, morbidity, and increased mortality. Skin and mucous membranes are primarily affected by EB, but extracutaneous organs may be involved. The main types of EB include EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler syndrome (KS).
Patrizi, A., Neri, I., El Hachem, M., Ravaioli, G.M., Technau-Hafsi, K., Has, C. (2020). Genetic Blistering Diseases. Switzerland : Springer Nature Switzerland AG 2020 [10.1007/978-3-319-45134-3_21-1].
Genetic Blistering Diseases
Patrizi, Annalisa
;Neri, Iria;Ravaioli, Giulia Maria;
2020
Abstract
Inherited epidermolysis bullosa (EB) encompasses a group of rare genetic disorders of the epidermal and dermal-epidermal junction complex, characterized by fra- gility of the skin and the mucous membranes, causing blistering and erosions after minor injury. The different types of EB present extreme phenotype variability; while some are mild, chronic and compatible with life, others are severe and associated with complications, morbidity, and increased mortality. Skin and mucous membranes are primarily affected by EB, but extracutaneous organs may be involved. The main types of EB include EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler syndrome (KS).I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
