Results 71 to 80 of about 25,211 (207)

Reduced Toxicity Conditioning and Allogeneic Hematopoietic Progenitor Cell Transplantation for Recessive Dystrophic Epidermolysis Bullosa

, 2015
Recessive dystrophic epidermolysis bullosa is a severe, incurable, inherited blistering disease caused by COL7A1 mutations. Emerging evidence suggests hematopoietic progenitor cells (HPCs) can be reprogrammed into skin; HPC-derived cells can restore COL7
Giller, Roger, Morel, Kimberly D, Woodley, David, Baxter-Lowe, LeeAnn, McGrath, John, Chen, Mei, Christiano, Angela M, LeBoeuf, Nicole, Cairo, Mitchell S, Radhakrishnan, Kavita, Geyer, Mark B, Umegaki, Noriko, Bruckner, Anna, Uitto, Jouni, Kandel, Jessica, Fabricatore, Sandra, Harel, Sivan, Kiuru, Maija   +17 more
core   +1 more source

First person – Blake Smith

Disease Models & Mechanisms, 2021
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers.
doaj   +1 more source

Dystrophic epidermolysis bullosa presenting with congenital localized absence of skin: report of four cases.

, 1983
Four cases of epidermolysis bullosa presenting with congenital absence of skin are described. These cases were shown to be dystrophic epidermolysis bullosa on clinical and ultrastructural findings.
Wojnarowska, FT, Wells, RS, Eady, RA, Wojnarowska, Fenella   +3 more
core   +1 more source

An Incompletely Penetrant Col7a1 Mutation Causes Dystrophic Epidermolysis Bullosa And Epidermolysis Bullosa Pruriginosa [PDF]

, 2012
Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by intense pruritus, nodular or lichenoid lesions, and violaceous linear scarring most prominent on the extensor extremities.
Yang, Catherine
core   +1 more source

Ocular Gene Therapy in a Patient with Dystrophic Epidermolysis Bullosa

Dystrophic epidermolysis bullosa is a rare genetic disease caused by damaging variants in COL7A1 , which encodes type VII collagen. Blistering and scarring of the ocular surface develop, potentially leading to blindness.
Agostini, Brittani, Parry, Trevor, Sayed-Ahmed, Ibrahim, Gomez, Jennifer, Carroll, Kate, Tovar Vetencourt, Arianna, Chen, Hubert, Krishnan, Suma, Sabater, Alfonso L.   +8 more
core   +1 more source

Bone Marrow Transplantation for Recessive Dystrophic Epidermolysis Bullosa

, 2010
BACKGROUND Recessive dystrophic epidermolysis bullosa is an incurable, often fatal mucocutaneous blistering disease caused by mutations in COL7A1, the gene encoding type VII collagen (C7).
Mei Chen, Hordinsky, Maria, Mark J. Osborn, Bruce R. Blazar, Osborn, Mark J., Maria Hordinsky, Michelle Dolan, Jakub Tolar, David T. Woodley, Blazar, Bruce R., Megan J. Riddle, Wagner, John E., McGrath, John A., Riddle, Megan J., John E. Wagner, Akemi Ishida-Yamamoto, John A. McGrath, Ishida-Yamamoto, Akemi, Troy Lund, Tolar, Jakub, Douglas R. Keene, Keene, Douglas R., Lund, Troy, Dolan, Michelle   +23 more
core   +1 more source

Carcinoembryonic Antigen: Increased Plasma Levels in Recessive Epidermolysis Bullosa [PDF]

, 1979
Circulating plasma levels of the oncofetal antigen, carcinoembryonic antigen, were examined in 18 patients with various forms of epidermolysis bullosa.
Bauer, Eugene A., Cooper, M., Rochman, Hyman, Esterly, Nancy B.   +3 more
core   +1 more source

Esophagitis and almost complete esophageal occlusion in a girl with epidermolysis bullosa

The Turkish Journal of Pediatrics, 2012
Epidermolysis bullosa is a genetically transmitted skin disorder that typically manifests with trauma-induced skin blistering, scarring and in some cases mucosal involvement. Esophageal webs, strictures or stenosis can be found in about a third of
Zlatko Djurić, Aleksandar Nagorni, Dragoljub Zivanović   +2 more
doaj  

Epidermolysis Bullosa Classification and Current Approach to Diagnosis

Pediatric Dermatology, Volume 43, Issue S2, Page 5-15, August 2026.
ABSTRACT Epidermolysis bullosa (EB) is a heterogeneous group of rare genodermatoses marked by skin fragility and bullae formation induced by minor trauma. Pathologic variants in at least 21 genes are associated with EB, grouped into four major subtypes based predominantly on the plane of cleavage within the skin.
Hannah E. Mumber, Marissa J. Perman
wiley   +1 more source

Epidermolysis Bullosa Simplex‐Severe Caused by KRT5 p.Glu477Lys: Challenges Encountered in This High‐Risk Subtype

Pediatric Dermatology, Volume 43, Issue S2, Page 46-49, August 2026.
ABSTRACT Epidermolysis bullosa simplex‐severe (EBS‐severe) caused by KRT5 p.Glu477Lys is a rare and particularly severe subtype associated with high neonatal morbidity and mortality. We report an infant who during the neonatal period required prolonged multidisciplinary intensive care for the management of several complications, including extensive ...
Nataliia Zhovta, Joana Lanz, Bettina Hafner, Karin Willi, Sven‐Eric Baller, Stephanie Adzikah, Martin Theiler, Lisa Weibel, Isabelle Luchsinger, Kathrin Neuhaus, Simon Küpper, Christa Relly, Jörg Thomas, Eva Bergsträsser, Nicole Knöpfel, Agnes Schwieger‐Briel   +15 more
wiley   +1 more source