679 KB0 KB192920262020Dragoš, VlastaLiović, MirjanaZemljič Jokhadar, Špelaštevilka:1/2letnik:89str. 107-117ISSN:1318-0347COBISSID_HOST:34737113URN:URN:NBN:SI:doc-Z281VAYPslSlovensko zdravniško društvoZdravniški vestnikbulozna epidermolizaepidermolysis bullosamutacijamutationtherapyzdravljenjeDedne bulozne epidermolize, oskrba ran in nove možnosti zdravljenja| Epidermolysis bullosa, wound management and new therapeutic approaches|Epidermolysis bullosa is a hereditary skin fragility disorder, which is linked to mutations in 18 genes that are expressed in the skin. Today we distinguish 4 main EB types, which include about 30 different disease subtypes with a variety of clinical simptoms. The main types are classified according to the skin layer that is affected: EB simplex linked to the epidermis; junctional EB linked to the basal membrane, and dystrophic EB linked to the dermis. Kindler syndrome is the fourth and very rare type of EB. In all cases, the patient's skin is very fragile, so the basic clinical symptoms are skin blisters and wounds that heal with difficulty. EB affects patients both physically and psychologically, and the chronic inflammation accompanying the disease often leads to aggressive forms of squamous cell carcinoma. This is a group of rare genetic diseases with an incidence of 1:40000. In Slovenia there are 60 patients with EB. Hereby we present the current standard of care of patients with this still incurable disorder, as well as the newest experimental methodologies aiming at the development of possible genetic, regenerative and pharmacological treatments of EBTEXTznanstveno časopisjejournalsSlovenian National E-content AggregatorNational and University Library of SloveniaSlovensko zdravniško društvo