Results 11 to 20 of about 27,311 (150)

Efficacy of intradermal allogeneic fibroblast injections in junctional epidermolysis bullosa

Russian Open Medical Journal, 2022
Objective — to assess the efficacy and safety of intradermal injections of allogeneic fibroblasts into non-healing wounds in a patient with junctional epidermolysis bullosa.
Alexey A. Kubanov, Arfenya E. Karamova, Vadim V. Chikin, Ekaterina S. Monchakovskaya, Mariya A. Nefedova   +4 more
doaj   +2 more sources

Multiple Acantholytic Acanthomas in Junctional Epidermolysis Bullosa [PDF]

Acta Dermato-Venereologica
is missing (Research letter)
Sota Itamoto, Ken Natsuga, Takashi Seo, Shota Takashima, Hideyuki Ujiie   +4 more
doaj   +2 more sources

Laminin 332-Dependent YAP Dysregulation Depletes Epidermal Stem Cells in Junctional Epidermolysis Bullosa

Cell Reports, 2019
Summary: Laminin 332-deficient junctional epidermolysis bullosa (JEB) is a severe genetic skin disease. JEB is marked by epidermal stem cell depletion, the origin of which is unknown.
Graziella Pellegrini, Michele De Luca, Tobias Hirsch   +2 more
exaly   +3 more sources

Rare Coexistence of Familial Laryngo‐Onycho‐Cutaneous Syndrome (LOCS/Shabbir Syndrome) and Epidermolysis Bullosa With Multisystemic Involvement: A Case Series 

Clinical Case Reports
The coexistence of LOCS and a broader EB phenotype within a single consanguineous family represents a unique instance of intra‐familial phenotypic heterogeneity in LAMA3‐related junctional epidermolysis bullosa.
Zainab Rasheed, Muhammad Rashid, Usman Syed Mahmud, Muhammad Hassaan Javaid, Raghabendra Kumar Mahato, Zubaria Yaqoob   +5 more
doaj   +2 more sources

Independent COL17A1 Variants in Cats with Junctional Epidermolysis Bullosa. [PDF]

Genes (Basel), 2023
Epidermolysis bullosa (EB), characterized by defective adhesion of the epidermis to the dermis, is a heterogeneous disease with many subtypes in human patients and domestic animals. We investigated two unrelated cats with recurring erosions and ulcers on
Kiener S, Troyer H, Ruvolo D, Grest P, Soto S, Letko A, Jagannathan V, Leeb T, Mauldin EA, Yang C, Rostaher A.   +10 more
europepmc   +3 more sources

Junctional epidermolysis bullosa: A mild variant in two Indian sisters

, 1992
Two sisters developed a bullous skin disease in early childhood. The disease had features of junctional epidermolysis bullosa but differed clinically from previously recorded ...
Blewitt, R.W., Newbould, M.J., Jones, Carolyn; id_orcid, Harrison, P.V.   +3 more
core   +10 more sources

Metaplastic Conditions in The Bladder in Patient With Epidermolysis Bullosa

International Brazilian Journal of Urology
Epidermolysis bullosa is a rare inherited muco-cutaneous disorder that sometimes presents with genitourinary involvement. Herein we report the case of an 11-year-old girl with a history of junctional epidermolysis bullosa who was admitted with urological
Kenan Yilmaz, Deniz Demirci, Numan Baydilli, Sinan Nazlim   +3 more
doaj   +2 more sources

Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4) [PDF]

The Turkish Journal of Pediatrics, 2015
Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases that vary widely in their pathogenesis and severity. It has been divided into distinct subtypes depending on the level of tissue separation in the dermal- epidermal ...
Mehmet Mutlu, Ersan Kalay, Beril Dilber, Yakup Aslan, Embiya Dilber, Nour Almaani, John A Mcgrath   +6 more
doaj   +4 more sources

En Route to Targeted Ribosome Editing to Replenish Skin Anchor Protein LAMB3 in Junctional Epidermolysis Bullosa [PDF]

JID Innovations
Severe junctional epidermolysis bullosa is a rare genetic, postpartum lethal skin disease, predominantly caused by nonsense/premature termination codon (PTC) sequence variants in LAMB3 gene.
Bjoern Wimmer, Andreas Friedrich, Katharina Poeltner, Genevieve Edobor, Claudia Mosshammer, Gazmend Temaj, Adriana Rathner, Thomas Karl, Jan Krauss, Joerg von Hagen, Christopher Gerner, Michael Breitenbach, Helmut Hintner, Johann W. Bauer, Hannelore Breitenbach-Koller   +14 more
doaj   +2 more sources

Junctional epidermolysis bullosa: genotype-phenotype correlations [PDF]

Vestnik Dermatologii i Venerologii, 2023
Junctional epidermolysis bullosa most commonly results from mutations in the LAMA3, LAMB3, LAMC2, COL17A1, ITGA6 and ITGB4 genes. Junctional epidermolysis bullosa is characterized by clinical heterogeneity.
Alexey A. Kubanov, Vadim V. Chikin, Arfenya E. Karamova, Ekaterina S. Monchakovskaya   +3 more
doaj   +1 more source