Results 81 to 90 of about 81,034 (193)

Ultrastructure of Blister Formation in Epidermolysis Bullosa Hereditaria: V. Epidermolysis Bullosa Simplex Localisata Type Weber-Cockayne [PDF]

, 1982
The ultrastructure of epidermolysis bullosa simplex type Weber-Cockayne has as yet not been studied systematically. Therefore biopsies of blisters freshly produced by friction after a hot bath were investigated by electron microscopy in 8 subjects of 6 ...
Haneke, Eckart, Anton-Lamprecht, Ingrun
core   +1 more source

Genética Molecular das Epidermólises Bolhosas Molecular Genetics of Epidermolysis Bullosa

Anais Brasileiros de Dermatologia, 2002
O estudo das alterações moleculares das epidermólises bolhosas tem contribuído para que se compreenda melhor essas enfermidades. Na epidermólise bolhosa simples a maioria dos casos está associada com alteração nas citoqueratinas basais 5 (gen KRT5) e 14 (
Hiram Larangeira de Almeida Jr
doaj   +1 more source

Adjunctive Botulinum Toxin Type A for Bruxism and Sweat‐Worsened Facial Blistering in Recessive Dystrophic Epidermolysis Bullosa: A Case Series

JEADV Clinical Practice, Volume 5, Issue 2, Page 656-660, June 2026.
Capsule Summary Bruxism and sweat‐induced facial blisters can affect patients with Recessive Dystrophic Epidermolysis Bullosa (RDEB) quality of life (QoL). We present the outcomes of orofacial BTX‐A infiltrations to treat these conditions. Three patients with severe RDEB, bruxism and microstomia received BTX‐A infiltrations (50U‐100U) in masseters and ...
Susanne Krämer, Sebastián Véliz, Gina Pennacchiotti, Fernanda Salazar, María‐Beatriz Méndez   +4 more
wiley   +1 more source

Induced pluripotent stem cell (iPSC) line from an epidermolysis bullosa simplex patient heterozygous for keratin 5 E475G mutation and with the Dowling Meara phenotype

Stem Cell Research, 2019
We have generated MLi002-A, a new induced pluripotent stem cell (iPSC) line derived from keratinocytes of a skin punch biopsy of a female patient with the severe epidermolysis bullosa simplex Dowling-Meara phenotype and the keratin K5 E475G mutation ...
Nikola Kolundzic, Preeti Khurana, Carl Hobbs, Marija Rogar, Sandra Ropret, Hans Törmä, Dusko Ilic, Mirjana Liovic   +7 more
doaj   +1 more source

PAIN MANAGEMENT OF NEWBORN WITH EPIDERMOLYSIS BULLOSA FOR WOUND DRESSING: A CASE REPORT

Sanamed, 2020
Epidermolysis bullosa (EB) is a genetic disease characterized by blisters on the skin and mucous membranes as a result of mechanical fragility. There are four types of EB: simplex (EBS), junctional (JEB), dystrophic forms (DEB), and Kindler syndrome ...
Sevgi Balli Seyhan
doaj   +1 more source

Oral and gastrointestinal manifestations of epidermolysis bullosa.

, 1992
The mouth, oesophagus, and anus are often involved in dystrophic and junctional epidermolysis bullosa, but the frequency is unknown. Among 246 patients with epidermolysis bullosa, dysphagia developed in 76% of those with recessive dystrophic, in 20% of ...
Mayou, B, Travis, Simon, Schofield, OM, O'Connor, AF, McGrath, JA, Turnbull, AJ, Travis, SP, Chan, O, Eady, RA, Thompson, RP   +9 more
core   +1 more source

Epidermolysis bullosa simplex with mottled pigmentation

Dermatology Online Journal, 2012
Epidermolysis bullosa is a rare disorder with several variants. Included in this disorder is epidermolysis bullosa with mottled pigmentation (EBS-MP). We report a case of a young child with this rare disorder and explain the genetic cause.
Browning, John C, Mohr, Brooke
openaire   +4 more sources

A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplex

, 2010
Epidermolysis bullosa simplex is an autosomal dominant inherited skin blistering disorder caused by mutations in the genes KRT5 or KRT14 coding for the basal epidermal keratins 5 and 14, respectively.
Flohil, Sophie C., Kooi, Kristia A., Jonkman, Marcel F., Lemmink, Henny H., Bolling, Maria C.   +4 more
core   +1 more source

The puzzling effect of disease severity on quality of life in epidermolysis bullosa

Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 8, Page e665-e668, August 2026.
Vinzenz Hübl, Sophie Strobl, Gudrun Salamon, Cristina Has, on behalf of the BUR‐EB Study Group   +4 more
wiley   +1 more source

Recessive Epidermolysis Bullosa simplex- A case report [PDF]

, 2010
Background:Epidermolysis bullosa simplex (EBS) is characterized by intraepidermal blister formation, most commonly appearing in early infancy. Many variants of EBS exist; the four most common variants are inherited in an autosomal dominant fashion.
AE Uloko, Uloko, AE, SM Yusuf, Yusuf, SM
core   +1 more source