Results 11 to 20 of about 9,316 (182)

Mechanobullous form of epidermolysis bullosa acquisita: Insights into disease mechanisms as inferred by response to rituximab, but not to JAK inhibitors

JEADV Clinical Practice
Epidermolysis bullosa acquisita (EBA) is a rare autoimmune blistering disease associated with IgG autoantibodies directed against type VII collagen. Different clinical forms have been described, including the classical mechanobullous variant resembling ...
L. Gueissaz, A. Junge, R. Wolf, C. Schlapbach, L. Feldmeyer, L. Borradori   +5 more
doaj   +2 more sources

Otorhinolaryngological and esophageal manifestations of epidermolysis bullosa [PDF]

Brazilian Journal of Otorhinolaryngology, 2008
Summary: Epidermolysis bullosa (EB) is a group of skin diseases with different clinical manifestations and varied inheritance patterns. Blisters may appear spontaneously or following minimal trauma to the skin or mucosa.
Rodrigo Santana Fantauzzi, Mariana Oliveira Maia, Flávia Coelho Cunha, Rodrigo Vidal Simões, Denise Utsch Gonçalves, Amélio Ferreira Maia   +5 more
doaj   +2 more sources

The possibilites of prevention of oral diseases in children with epidermolysis bullosa dystrophica [PDF]

, 2017
Epidermolysis bullosa (EB) je nasledna multisistemska, genetički i klinički heterogena grupa bolesti koju karakteriše izuzetna osetljivost kože i sluzokoža, na kojima se bule i erozije javljaju nakon slabe mehaničke traume.
Čolović, Aleksandra
core   +5 more sources

Narrowing the Differential: A Unique Case of Dystrophic Epidermolysis Bullosa. [PDF]

Case Rep Pediatr
Dystrophic epidermolysis bullosa (DEB) is a rare inherited skin disorder characterized by mechanical stress‐induced blistering and skin erosion. Diagnosis is confirmed through molecular genetic testing, typically identifying mutations in the COL7A1 gene. DEB can mimic other neonatal dermatologic conditions, making early identification challenging.
Yacobucci L, Edwards C, Oosbree AV, Newman R.   +3 more
europepmc   +2 more sources

Epidermolysis bullosa dystrophica pretibialis – Clinical snapshot and management of a rare orphan disease

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 19, Issue 7, Page 983-986, July 2021., 2021
Summary If blistering occurs in childhood, the possibility of hereditary epidermolysis bullosa should be considered even if the symptoms are mild. Besides clinical and histological examination, molecular genetic screening is diagnostically relevant. For localized forms, symptomatic, topical therapy options are currently still the primary choice.
Lisa Marlen Will, Jörg Reichrath, Thomas Vogt   +2 more
wiley   +1 more source

Epidermolysis bullosa dystrophica prätibialis – Klinischer Schnappschuss und Management einer seltenen Erkrankung

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 19, Issue 7, Page 983-986, July 2021., 2021
Zusammenfassung Bei Patienten im Kindesalter sollte bei auftretender Blasenbildung auch bei geringer Symptomatik an die Möglichkeit einer hereditären Epidermolysis bullosa gedacht werden. Diagnostisch wegweisend ist neben Klinik und Histologie die molekulargenetische Untersuchung.
Lisa Marlen Will, Jörg Reichrath, Thomas Vogt   +2 more
wiley   +1 more source

A decade of next‐generation sequencing in genodermatoses: the impact on gene discovery and clinical diagnostics*

British Journal of Dermatology, Volume 184, Issue 4, Page 606-616, April 2021., 2021
Summary Background Discovering the genetic basis of inherited skin diseases is fundamental to improving diagnostic accuracy and genetic counselling. In the 1990s and 2000s, genetic linkage and candidate gene approaches led to the molecular characterization of several dozen genodermatoses, but over the past decade the advent of next‐generation ...
F.P.‐C. Chiu, B.J. Doolan, J.A. McGrath, A. Onoufriadis   +3 more
wiley   +1 more source

Pretibial dystrophic epidermolysis bullosa [PDF]

Anais Brasileiros de Dermatologia, 2017
Epidermolysis bullosa is a group of mechano-bullous genetic disorders caused by mutations in the genes encoding structural proteins of the skin. Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII, the main ...
Elisabeth de Albuquerque Cavalcanti Callegaro, Flavio Nappi, Rosana Lazzarini, Rute Facchini Lellis   +3 more
doaj   +1 more source

Epidermolysis Bullosa in Calves in the United Kingdom [PDF]

, 2010
Epidermolysis bullosa (EB) was diagnosed in eight calves from four farms in the United Kingdom on the basis of clinical, histological and ultrastructural findings. In three affected herds, pedigree Simmental bulls had been mated with Simmental-cross cows.
Skuse, A.M., Philbey, A W, Higgins, R J, Fraser, M., Thompson, H., Higgins, R.J., Day, M J, Foster, A.P., Higgins, R. J., Fraser, M.A., Day, M.J., Philbey, A. W., Thomson, J., Skuse, A M, Fraser, M A, Philbey, A., Foster, A P, Bowden, P E, Bowden, P.E., Barrett, D. C., Thomson, J. R., Bowden, P. E., Fraser, Mary, Day, M. J., Thomson, J R, Thompson, H, Barrett, D C, Fraser, M. A., Barrett, D.C., Skuse, A. M., Bowden, Paul Edward, Foster, A. P.   +31 more
core   +1 more source

Seltene Form der Epidermolysis bullosa simplex mit homozygoter Mutation im Gen EXPH5

, 2023
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 21, Issue S2, Page 3-5, April 2023.
Henning Olbrich, Judith Fischer, Iakov Shimanovich   +2 more
wiley   +1 more source