Avtor/Urednik		Zemljič Jokhadar, Špela; Dragoš, Vlasta; Liović, Mirjana
Naslov		Dedne bulozne epidermolize, oskrba ran in nove možnosti zdravljenja
Prevedeni naslov		Epidermolysis bullosa, wound management and new therapeutic approaches
Tip		članek
Vol. in št.		Letnik 89, št. 1/2
Leto izdaje		2020
Obseg		str. 107-117
ISSN		1318-0347 - Zdravniški vestnik : glasilo Slovenskega zdravniškega društva : Slovenian medical journal
Jezik		slv
Abstrakt		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 EB.
Proste vsebinske oznake		bulozna epidermoliza mutacija zdravljenje epidermolysis bullosa mutation therapy