Results 21 to 30 of about 3,156 (181)

Analysis of factors influencing postoperative hand function in DEB with hand deformities

Pifu-xingbing zhenliaoxue zazhi, 2021
Objective: To investigate the influencing factors of postoperative hand function in patients with dystrophic epidermolysis bullosa. Methods: A retrospective analysis was performed in 41 patients with dystrophic epidermolysis bullosa with hands ...
Xinhe JIAO, Yuluo JIAN, Lu WANG
doaj   +1 more source

Bone marrow transplant for recessive dystrophic epidermolysis bullosa

Pediatric Hematology Oncology Journal, 2019
Recessive dystrophic epidermolysis bullosa is an incurable, often fatal mucocutaneous blistering disease. A 2yr -old girl, presented with generalized bullous lesions since birth.
Vipin Khandelwal, Dharma Choudhary, Sanjeev Kumar Sharma, Divya Doval   +3 more
doaj   +1 more source

Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations

Acta Dermato-Venereologica, 2018
Circulating anti-type VII collagen autoantibodies are frequently detected in patients with recessive dystrophic epidermolysis bullosa (RDEB). However, evidence supporting their pathogenic role in inducing epidermolysis bullosa acquisita (EBA) has been ...
Liliana Guerra, Angelo Giuseppe Condorelli, Paola Fortugno, Valentina Calabresi, Cristina Pedicelli, Giovanni Di Zenzo, Daniele Castiglia   +6 more
doaj   +1 more source

Scanning electron microscopy of a blister roof in dystrophic epidermolysis bullosa [PDF]

Anais Brasileiros de Dermatologia, 2013
In dystrophic epidermolysis bullosa the genetic defect of anchoring fibrils leads to cleavage beneath the basement membrane, with its consequent loss.
Hiram Larangeira de Almeida Jr., Luciane Monteiro, Ricardo Marques e Silva, Nara Moreira Rocha, Hans Scheffer   +4 more
doaj   +1 more source

Stomatological management and implant‐supported rehabilitation in a patient with recessive dystrophic epidermolysis bullosa

Clinical Case Reports, 2022
Inherited epidermolysis bullosa (EB) is a disease that causes epithelium fragility due to a protein anomaly caused by a genetic mutation. Epidermolysis bullosa clinical manifestations are bullae and cutaneous‐mucosal erosions.
Pierre Mestrallet, Adnane Wardani, Laurence Evrard   +2 more
doaj   +1 more source

The challenges of living with and managing epidermolysis bullosa: insights from patients and caregivers

Orphanet Journal of Rare Diseases, 2020
Background Little information is available regarding the burden of living with and managing epidermolysis bullosa, including the distinct challenges faced by patients with different disease types/subtypes.
Anna L. Bruckner, Michael Losow, Jayson Wisk, Nita Patel, Allen Reha, Hjalmar Lagast, Jamie Gault, Jayne Gershkowitz, Brett Kopelan, Michael Hund, Dedee F. Murrell   +10 more
doaj   +1 more source

A Case Report of Aplasia Cutis Congenita Type VI: Bart Syndrome [PDF]

Modern Medicine, 2019
Bart syndrome is a genetic disorder that is characterized by the association of congenital localized absence of the skin (aplasia cutis), blister formation (epidermolysis bullosa), dystrophic nails and lesions of the mouth mucosa.
Florica SANDRU, Catalina IORDAN, Dana ZACIU, Aida PETCA, Mihai DUMITRASCU, Adelina POPA   +5 more
doaj   +1 more source

Cytosine Deaminase Base Editing to Restore COL7A1 in Dystrophic Epidermolysis Bullosa Human: Murine Skin Model

JID Innovations, 2023
Recessive dystrophic epidermolysis bullosa is a debilitating blistering skin disorder caused by loss-of-function mutations in COL7A1, which encodes type VII collagen, the main component of anchoring fibrils at the dermal−epidermal junction.
Gaetano Naso, Soragia Athina Gkazi, Christos Georgiadis, Vignesh Jayarajan, Joanna Jacków, Roland Fleck, Leanne Allison, Olumide Kayode Ogunbiyi, John Alexander McGrath, Dusko Ilic, Wei-Li Di, Anastasia Petrova, Waseem Qasim   +12 more
doaj   +1 more source

Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole‐exome sequencing

Molecular Genetics & Genomic Medicine, 2021
Background Dystrophic epidermolysis bullosa (DEB) is a rare inherited disorder characterized by skin fragility leading to trauma‐induced subepidermal blisters and healing with scarring. DEB is caused by mutations in COL7A1, the gene encoding for type VII
Thi Huyen Thuong Ma, Thi Lan Anh Luong, Thu Lan Hoang, Thi Thanh Hoa Nguyen, Thi Ha Vu, Van Khoa Tran, Duy Bac Nguyen, Tien Sang Trieu, Hai Ha Nguyen, Van Hai Nong, Dang Ton Nguyen   +10 more
doaj   +1 more source

Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing

Acta Dermato-Venereologica, 2020
Dystrophic epidermolysis bullosa is an inherited skin disorder characterized by fragile skin that is prone to blistering. We report here a consanguineous Pakistani family with two siblings, in whom a severe recessive dystrophic epidermolysis bullosa was ...
Syed Ashraf Uddin, Nicole Cesarato, Aytaj Humbatova, Axel Schmidt, Fazal urRehman, Muhammad Naeem, Abdul Samad Tareen, Sabrina Wolf, Muhammad Anwar Panezai, Holger Thiele, Abdul Wali, Regina Fölster-Holst, Sulman Basit, Muhammad Ayub, Regina C. Betz   +14 more
doaj   +1 more source