Örökletes és immunológiai bőrgyógyászati kórképek epidemiológiai és molekuláris genetikai vizsgálata = Epidemiological and molecular genetic study of the inherited and immunodermatological diseases [PDF]
Örökletes bőrgyógyászati megbetegedések: A genetikai hátterű bőrgyógyászati betegségek között kiemelt jelentőségű az epidermolysis bullosa (EB) csoport.
Medvecz, Márta
core
Suprathel®‐assisted surgical treatment of the hand in a dystrophic epidermolysis bullosa patient
Abstract Epidermolysis bullosa (EB) is a progressive familial disorder composed of dermal mucosal blisters, flexion contractures and pseudosyndactylies. Flexion contractures and pseudosyndactyly can be treated with surgery but usually require skin grafting. Because of poor wound healing, skin graft harvesting is a challenge in these patients.
Elif Sari +4 more
wiley +1 more source
Esophageal involvement in epidermolysis bullosa dystrophica: Clinical and roentgenographic manifestations [PDF]
Epidermolysis bullosa is a rare hereditary mechanobullous skin disorder. Four patients with esophageal involvement are reported. These cases and review of reported cases of epidermolysis bullosa dystrophica-recessive (EBD-R) showed distinct clinical and ...
A Bergenholtz +27 more
core +1 more source
Epidermolysis bullosa (EB) is a group of inherited skin disorders characterized by blistering following mechanical trauma. Chronic wounds of EB patients often lead to tumors such as squamous cell carcinoma (SCC). Early diagnosis may prevent its invasive growth—frequently the reason of premature mortality of EB‐patients.
Patrick Larisch +4 more
wiley +1 more source
In dystrophic epidermolysis bullosa, the genetic defect of anchoring fibrils leads to cleavage beneath the basement membrane and its consequent loss.
Hiram Larangeira de Almeida Jr +4 more
doaj +1 more source
Anaesthetic management of an infant with epidermolysis bullosa undergoing inguinal hernia repair [PDF]
Epidermolysis bullosa is a group of inherited disorders characterized by blistering of the skin as a result of minor trauma. We managed an infant with epidermolysis bullosa undergoing inguinal hernia repair.
Khan, Sobia, Siddiqui, Khalid Maudood
core +1 more source
Epidermólisis bullosa: cuidados de Enfermería [PDF]
La Epidermólisis Bullosa, aun tratándose de una enfermedad de poca incidencia (enfermedad rara), supone un problema de salud con importantes repercusiones para el paciente y su familia, que deben conocerse y ser tratados adecuadamente por los ...
Asensio Mucientes, Lucía
core
Abstract The purpose of this study is to gain insights into potential genetic factors contributing to the infant's vulnerability to Sudden Unexpected Infant Death (SUID). Whole Genome Sequencing (WGS) was performed on 144 infants that succumbed to SUID, and 573 healthy adults.
Angela M. Bard +17 more
wiley +1 more source
Una mariposa diferente. Cuidados al niño con epidermólisis bullosa [PDF]
Trabajo fin de grado en EnfermeríaIntroducción La Epidermólisis Bullosa, comúnmente conocida como la "enfermedad de la piel de mariposa", es una de las miles de enfermedades raras.
Perez Cruz, Sara
core
Oral rehabilitation with dental implants in patients with recessive dystrophic epidermolysis bullosa : a retrospective study with 2-15 years of follow-up [PDF]
Epidermolysis bullosa (EB) comprises a group of hereditary disorders characterized by mechanical fragility of the skin and mucous membranes, with the development of blisters and vesicles in response to minimum tissue friction.
Agustín Panadero, Rubén +4 more
core +1 more source

