Homozygous Nonsense Mutation and Additional Deletion of an Amino Acid in BPAG1e Causing Mild Localized Epidermolysis Bullosa Simplex.
Homozygous Nonsense Mutation and Additional Deletion of an Amino Acid in BPAG1e Causing Mild Localized Epidermolysis Bullosa Simplex. Acta Derm Venereol. 2017 Jan 25;: Authors: He Y, Leppert J, Steinke H, Has C Abstract is missing (Short communication). PMID: 28119998 [PubMed - as supplied by publisher]
Condition: Epidermolysis Bullosa Dystrophica, Recessive Intervention: Biological: mesenchymal stem cells derived from bone marrow (BM-MSCs) Sponsors: Instituto de Investigación Hospital Universitario La Paz; Universidad Carlos III Madrid (TERMeG); St John’s Institute of Dermatology Kings College London; Instituto de Salud Carlos III; DEBRA; CIBER Enfermedades raras Active, not recruiting
uml;m A Abstract Dystrophic epidermolysis bullosa (DEB) is a skin blistering disease caused by mutations in the COL7A1 gene encoding the anchoring fibril-constituent collagen VII.1 Secondary to skin fragility, DEB manifests as chronic wounds and progressive soft tissue fibrosis. As a consequence of a chronically injured and stiffened dermal microenvironment people with severe DEB are prone to develop early-onset metastatic cutaneous squamous cell carcinomas (cSCCs).1,2 Dermal fibrosis in DEB is paradigmatic of injury- and inflammation-driven activation of fibrogenic processes2 (and references therein). PMID: ...
ConclusionsThe dental implant failure rate in EB patients seems to be very low, although the few cases reported in the literature were followed up for a short mean period, i.e., just a little bit longer than 3 years. More cases followed up for a long period are needed in order to be able to make a more reliable prognosis for the long-term oral rehabilitation of EB patients with dental implants.
Abstract Epidermolysis Bullosa (EB) is a group of genetic conditions resulting in skin and mucosal membrane fragility. EB is characterised by chronic wounds and scarring, consequent functional limitations and high levels of pain. In its most severe forms, life expectancy is significantly foreshortened. PMID: 31587254 [PubMed - as supplied by publisher]
Plectin is a giant multifunctional cytolinker protein (500 kDa) expressed in several tissues with essential roles in striated and smooth muscles, epithelia and nerve. It is a component of hemidesmosomes, desmosomes and focal adhesion contacts where it interacts with actin and intermediate filaments. Pathogenic variants in the PLEC1 gene lead to a group of diseases including epidermolysis bullosa (simplex ogna with or without muscular dystrophy, myasthenic syndrome, or pyloric atresia) and isolated limb-girdle muscular dystrophy.
We report the morphological, ultrastructural and western blot analysis of 7 patients from six families carrying pathological variants in PLEC1: 3 with LGMD, 1 with LGMD+EB, 1 with EB+CMD and 2 with diffuse weakness. Skeletal muscle biopsies were performed in the seven patients; six adult patients (20 to 59 years of age; 3M/3F) and one female child (1 year old).
Abstract Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited skin fragility disorder caused by loss-of-function mutations in COL7A1 encoding type VII collagen (C7), the major component of anchoring fibrils (AFs) that ensure dermal-epidermal adherence. From birth, RDEB patients endure lifelong skin and mucosal blistering with both local and systemic complications including aggressive metastatic squamous cell carcinomas (SCC).1 Currently, treatments are only symptomatic although clinical studies of novel therapeutics, including gene2 and cell3 therapies are emerging. One potential safety issue with suc...
Abeona Therapeutics announced that the FDA has placed a clinical hold on its planned Phase 3 clinical trial evaluating autologous cell therapy EB-101 in patients with recessive dystrophic epidermolysis bullosa.