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Use this url to cite publication: https://hdl.handle.net/20.500.12512/14347

Inherited epidermolysis bullosa

Type of publication
Konferencijų tezės nerecenzuojamame leidinyje / Conference theses in non-peer-reviewed publication (T2)
Author(s)
AuthorAffiliation
Kučinskienė, Vesta
Odos ir venerinių ligų klinika (U524800)
Title
Inherited epidermolysis bullosa
Kučinskienė V., Liubinienė K
Publisher (trusted)
Lietuvos sveikatos mokslų universiteto Leidybos namai
Date Issued
Date
2013-11-14
Extent
p. 44-44.
Is part of
Konferencija Nacionalinių veiklos, susijusios su retomis ligomis, planų ir strategijų įgyvendinimo aktualijos : programa ir tezės = Conference The National activities related to rare diseases : programme and abstracts : 2013-11-14, Vilnius, LT / Vilniaus universitetas. Lietuvos sveikatos mokslų universitetas ; [Organizacinis, mokslinis komitetai: Mačiūnas Erikas (pirm.) [ir kt.], Utkus Algirdas (pirm.) [ir kt.]. Kaunas : Lietuvos sveikatos mokslų universiteto Leidybos namai, 2013.
Version
Originalus / Original
Series/Report no.
Tezės/Abstracts.
Description

Bibliogr.: p. 44

Field of Science

Medicina / Medicine (...

Keywords (en)

Epidermolysis bullosa...

Epidermolysis bullosa...

Lithuania.

Abstract (en)

Inherited epidermolysis bullosa (EB) is a group of genodermatoses, characterized by mechanical fragility of the skin, blisters and erosions formation. The prevalence rate of EB is 2.4 cases/100,000 in Europe. Every year 1-2 babies with EB are born in Lithuania. Approximately 30 people could have EB in Lithuania. Inherited EB include over 30 phenotypically or genotypically distinct entities which share the common feature - mechanical fragility of epithelium and derma. Clinical manifestations extent widely, from localized blisteting of the hands and feet to generalised blistering of the skin and oral cavity, injury of many internal organs, impairment of a child development and growth. Some subtypes may lead to death, even in the infancy. Each inherited EB subtype is known to arise from mutations within the genes encoding several different proteins, each of which is responsible for the maintenance of keratinocyte structural stability and adhesion. [...].

Type of document
type::text::conference output::conference proceedings::conference paper
Other Identifier(s)
(LSMU ALMA)990000829680107106
Coverage Spatial
Lietuva / Lithuania (LT)
Language
Anglų / English (en)
URI
URI
https://hdl.handle.net/20.500.12512/14347
Bibliographic Details
2
Affiliation(s)