Az epidermolysis bullosa szájüregi tünetei és annak ellátása [PDF]
, 2017 The aim of this comprehensive article is to provide guidelines for the daily treatment of patients with epidermolysis bullosa, thus contributing to the attainment of their higher quality of life through the improvement of their oral health.
Antal, Márk Ádám +5 more
core +3 more sources
Epidemiology of epidermolysis bullosa in the antipodes: The Australasian epidermolysis bullosa registry with a focus on Herlitz junctional epidermolysis bullosa [PDF]
, 2010 To present epidemiologic and clinical data from the Australasian Epidermolysis Bullosa (EB) Registry, the first orphan disease registry in Australia. Design: Observational study (cross-sectional and longitudinal).
Hogan, Peter +8 more
core +1 more source
Topical treatment of inherited epidermolysis bullosa [PDF]
Vestnik Dermatologii i Venerologii, 2021 Inherited epidermolysis bullosa is a group of genetic skin disorders characterized by skin erosions, ulceration, skin and mucosal blistering requiring topical treatment.
Alexey A. Kubanov +3 more
doaj +1 more source
Epidermolysis bullosa simplex with mottled pigmentation: a family report and review [PDF]
, 2013 Epidermolysis bullosa simplex with mottled hyperpigmentation (EBS-MP) is an uncommon subtype of EBS. Its clinical features depend on the age of diagnosis, and clinical variations have been described even within family members.
Colmenero, Isabel +9 more
core +3 more sources
Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation [PDF]
, 2004 Plectin is one of the largest and most versatile cytolinker proteins known. Cloned and sequenced in 1991, it was later shown to have nonsense mutations in recessive epidermolysis bullosa with muscular dystrophy.
De Groot, WP +7 more
core +1 more source
Junctional Epidermolysis Bullosa Associated Laryngeal Stenosis: A Case Report and Review of Literature [PDF]
Iranian Journal of OtorhinolaryngologyIntroduction:Introduction: Junctional Epidermolysis Bullosa (JEB) is a rare subtype of the Epidermolysis Bullosa which itself is a rare genetic disorder. While mucosal involvement of pharynx and oesophagus has been reported, laryngeal involvement is rare.
Firyal Balushi +3 more
doaj +1 more source
Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs [PDF]
, 2017 A rare hereditary mechanobullous disorder called epidermolysis bullosa (EB) causes blistering in the skin and the mucosal membranes. To date, nineteen EB-related genes have been discovered in human and other species.
Anttila, Marjukka +6 more
core +2 more sources
Social/economic costs and health-related quality of life in patients with epidermolysis bullosa in Europe [PDF]
, 2016 BACKGROUND: The aim of this study was to determine the social/economic costs and health-related quality of life (HRQOL) of patients with epidermolysis bullosa (EB) in eight EU member states.
Aris Angelis +15 more
core +5 more sources
Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and is improved by apremilast treatment [PDF]
, 2018 International audienceBACKGROUND: Epidermolysis bullosa simplex generalized severe is a genetic disorder caused by mutation in KRT5 or KRT14 genes. Usually considered as a mechanical disease, recent data argue for additional inflammatory mechanisms ...
Baty, D. +14 more
core +4 more sources
Main problems experienced by children with epidermolysis bullosa:A qualitative study with semi-structured interviews [PDF]
, 2008 The objective of this study was to identify and specify the problems of children with epidermolysis bullosa. The questions explored were: (i) What do children with epidermolysis bullosa experience as the most difficult problems; (it) What is the impact ...
Duipmans, Jose C. +4 more
core +8 more sources