Results 51 to 60 of about 3,156 (181)

First Report of Homozygous COL7A1 c.5756delG Mutation Causing Recessive Dystrophic Epidermolysis Bullosa in a Non‐Consanguineous Japanese Family

JEADV Clinical Practice, Volume 5, Issue 2, Page 640-643, June 2026.
ABSTRACT Severe recessive dystrophic epidermolysis bullosa (RDEB) is usually caused by biallelic loss‐of‐function mutations in COL7A1. While the c.5756delG variant has been previously reported in heterozygous form, its clinical impact in homozygosity has not been described.
Nozomi Kohama, Sayaka Yamaguchi, Teruki Yanagi, Yumi Akamine, Kimiko Nonaka, Daisuke Utsumi, Kenzo Takahashi   +6 more
wiley   +1 more source

Response to Oral Dapsone in a Patient With Generalised Junctional Epidermolysis Bullosa

JEADV Clinical Practice, Volume 5, Issue 2, Page 648-650, June 2026.
ABSTRACT Dapsone is a potent antibacterial agent used as a first‐line treatment for leprosy and employed also as an anti‐inflammatory agent. Additionally, dapsone is used for a variety of other cutaneous conditions. Herein, we report a case of intermediate junctional epidermolysis bullosa that improved significantly with oral 4,4’‐diamino‐diphenyl ...
Shiho Mori, Manabu Fujimoto, Katsuto Tamai   +2 more
wiley   +1 more source

Adjunctive Botulinum Toxin Type A for Bruxism and Sweat‐Worsened Facial Blistering in Recessive Dystrophic Epidermolysis Bullosa: A Case Series

JEADV Clinical Practice, Volume 5, Issue 2, Page 656-660, June 2026.
Capsule Summary Bruxism and sweat‐induced facial blisters can affect patients with Recessive Dystrophic Epidermolysis Bullosa (RDEB) quality of life (QoL). We present the outcomes of orofacial BTX‐A infiltrations to treat these conditions. Three patients with severe RDEB, bruxism and microstomia received BTX‐A infiltrations (50U‐100U) in masseters and ...
Susanne Krämer, Sebastián Véliz, Gina Pennacchiotti, Fernanda Salazar, María‐Beatriz Méndez   +4 more
wiley   +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

Recessive Dystrophic Epidermolysis Bullosa and Pregnancy

Actas Dermo-Sifiliográficas (English Edition), 2019
Dystrophic epidermolysis bullosa is a rare inherited disease caused by mutations in the COL7A1 gene. Its recessive variant (recessive dystrophic epidermolysis bullosa) is characterized by the absence or considerably reduced expression of type VII collagen, which leads to marked fragility of the skin and mucous membranes and subsequent blister formation,
F, Boria, R, Maseda, M, Martín-Cameán, M, De la Calle, R, de Lucas   +4 more
openaire   +2 more sources

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  

From Hair to Healing: Follicular Unit Transplantation for Chronic Ulcer Management—A Case Series

International Wound Journal, Volume 23, Issue 6, June 2026.
ABSTRACT Scalp follicular unit (FU) transplantation is a highly effective yet underutilised minimally invasive technique for promoting healing in chronic and recalcitrant cutaneous wounds. In this case series, five patients with long‐standing nonhealing leg ulcers of mixed etiologies were treated exclusively with single FU grafts harvested from the ...
Francisco Jimenez, Aditya K. Gupta, Jerry Cooley, Adriana Peña‐Escobar, Mesbah Talukder   +4 more
wiley   +1 more source

Engineering exosomal cargo loading via endogenous molecular pathways: Strategies to enhance therapeutic potential

Interdisciplinary Medicine, Volume 4, Issue 3, May 2026.
This review illustrates how scientists engineer exosomes by hijacking the cell's own cargo‐sorting machinery. These strategies efficiently load therapeutic molecules into natural vesicles, creating powerful next‐generation drug delivery systems (Created with BioGDP.com).
Huanrong Zhu, Chenning Zhang, Shihan Ma, Zhanxue Xu, Cailing Liang, Fang Cheng, Hongbo Chen   +6 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Neonatal epidermolysis bullosa with dystrophic nails

BMJ Case Reports, 2009
Epidermolysis bullosa (EB) is a rare blistering disease that may manifest in the neonatal period. Diagnosis is based on clinical symptomatology, histopathology, electron microscopy and genetic studies.1 However, in a resource limited setting, the diagnosis is mainly clinical. Age of onset, symptomatology and prognosis of the various subtypes are varied.
Ketan, Kulkarni, Satvinder, Kaur
openaire   +3 more sources