Results 11 to 20 of about 1,088 (130)

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

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

Chronic leg ulcers as a rare cause for the first diagnosis of epidermolysis bullosa dystrophica. [PDF]

Int Wound J, 2014
Chronic leg ulcers occur most frequently in the elderly population as a result of an underlying vascular disease especially chronic venous insufficiency. But it also occurs less commonly in younger people due to other aetiologies, for example, infections, vasculitis, neoplasia or genetic diseases.
Bafaraj MG, Cesko E, Weindorf M, Dissemond J.   +3 more
europepmc   +2 more sources

Bibliometric Analysis of the 50 Most Cited Publications in Epidermolysis Bullosa. [PDF]

Pediatr Dermatol
ABSTRACT Epidermolysis bullosa (EB) is a group of inherited skin disorders characterized by extreme skin fragility, leading to recurrent blistering and significant impacts on patients' quality of life. A bibliometric analysis of the 50 most‐cited EB articles from the past six decades reveals that the majority of research focuses on understanding EB ...
Fagan EF, Fernandez JM, McGrath JT, Wei EX, Oudenhoven M.   +4 more
europepmc   +2 more sources

Analyse des Hautmikrobioms eines an junktionaler Epidermolysis bullosa erkrankten Patienten nach Behandlung mit genetisch modifizierten Stammzellen [PDF]

J Dtsch Dermatol Ges
ZUSAMMENFASSUNG Hintergrund und Ziel Die junktionale Epidermolysis bullosa (JEB) ist eine Unterform der Epidermolysis bullosa, einer Erkrankung, die durch eine Mutation im LAMB3‐Gen verursacht wird. Wir behandelten einen Patienten mit JEB mit genetisch korrigierten autologen epidermalen Kulturen unter Verwendung eines retroviralen Vektors, der die ...
Dermietzel A, Tosun B, Nguyen M, Wessel K, Rauer L, Neumann A, Hirsch T, CK‐CARE study group, Traidl‐Hoffmann C, Reiger M, Hülpüsch C, Kueckelhaus M.   +11 more
europepmc   +2 more sources

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

Surgical management of hand deformities in hereditary dystrophic epidermolysis bullosa [PDF]

Vojnosanitetski Pregled, 2003
In the period 1996-2001 in the Clinic for Plastic Surgery and Burns of the Military Medical Academy, 18 patients. 12 male and 6 female, with hereditary dystrophic epidermolysis bullosa (HDEB) and hand deformities were surgically treated, to achieve the ...
Panajotović Ljubomir, Kozarski Jefta, Ribnikar Vladislav   +2 more
doaj   +1 more source