Search results for "Epidermolysis Bullosa"
showing 10 items of 22 documents
Epidermolysis Bullosa Simplex-Type Mutations Alter the Dynamics of the Keratin Cytoskeleton and Reveal a Contribution of Actin to the Transport of Ke…
2003
Dominant keratin mutations cause epidermolysis bullosa simplex by transforming keratin (K) filaments into aggregates. As a first step toward understanding the properties of mutant keratins in vivo, we stably transfected epithelial cells with an enhanced yellow fluorescent protein-tagged K14R125C mutant. K14R125C became localized as aggregates in the cell periphery and incorporated into perinuclear keratin filaments. Unexpectedly, keratin aggregates were in dynamic equilibrium with soluble subunits at a half-life time of <15 min, whereas filaments were extremely static. Therefore, this dominant-negative mutation acts by altering cytoskeletal dynamics and solubility. Unlike previously post…
Recognizable neonatal clinical features of aplasia cutis congenita
2020
Abstract Background Aplasia cutis congenita (ACC), classified in nine groups, is likely to be underreported, since milder isolated lesions in wellbeing newborns could often be undetected, and solitary lesions in the context of polymalformative syndromes could not always be reported. Regardless of form and cause, therapeutic options have in common the aim to restore the deficient mechanical and immunological cutaneous protection and to limit the risk of fluid leakage or rupture of the exposed organs. We aimed to review our institutional prevalence, comorbidities, treatment and outcome of newborns with ACC. Methods We conducted a retrospective study including all newborns affected by ACC and …
Dystrophic epidermolysis bullosa: oral findings and problems.
2006
Dystrophic epidermolysis bullosa (DEB) is one of the three major types of epidermolysis bullosa (EB), an inherited cutaneous disease with blister formation following minor trauma. A subtype of DEB is recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (RDEB-HS), where marked scarring leads to deformities of extremities. In RDEB-HS the mucous membranes may also be involved and form adhesions with ankyloglossia and microstomia. Oral hygiene is difficult. A 7-year-old boy with RDEB-HS was brought to the Johannes Gutenberg University dental clinic with dental pain. He had multiple carious lesions, poor oral hygiene and gingivitis. Because he was noncompliant and had microstomia, …
Oxidative stress and mitochondrial dysfunction in Kindler syndrome
2014
This is an Open Access article distributed under the terms of the Creative Commons Attribution License.-- et al.
Focal adhesions are hotspots for keratin filament precursor formation
2006
Recent studies showed that keratin filament (KF) formation originates primarily from sites close to the actin-rich cell cortex. To further characterize these sites, we performed multicolor fluorescence imaging of living cells and found drastically increased KF assembly in regions of elevated actin turnover, i.e., in lamellipodia. Abundant KF precursors (KFPs) appeared within these areas at the distal tips of actin stress fibers, moving alongside the stress fibers until their integration into the peripheral KF network. The earliest KFPs were detected next to actin-anchoring focal adhesions (FAs) and were only seen after the establishment of FAs in emerging lamellipodia. Tight spatiotemporal …
Control Of Organ Transplant-Associated Graft-versus-Host Disease By Activated Host Lymphocyte Infusions
2004
Background Prolonged persistence of donor-derived T cells after organ transplantation has been proposed to improve long-term allograft survival. However, surviving transplant-derived T cells are also able to mediate devastating graft-versus-host disease (GvHD). Currently, GvHD after organ transplantation is usually refractory to conventional therapy and the disease outcome fatal. Methods Graft-reactive host T cells were generated ex vivo from a patient suffering from a severe and refractory liver-transplant-associated GvHD. To control GvHD, activated alloreactive host T cells were repetitively retransferred into the patient (activated host lymphocyte infusion [aHLI]). Results Adoptive trans…
Pruriginous Lesions in a Young Girl: Answer.
2018
Implants in patients with oral manifestations of autoimmune or muco-cutaneous diseases – A systematic review
2018
Background To give an overview on implant survival rates in patients with oral manifestations of systemic autoimmune (oral Lichen planus (oLp), Pemphigus (Pe)), muco-cutaneous (Epidermolysis bullosa (EB)), autoimmune multisystemic rheumatic diseases (Sjögren´s syndrome (SjS), systemic Lupus erythematosus (sLE), or systemic Sclerosis (sSc)). Material and Methods Systematic literature review (PubMed/Medline, Embase) using MESH and search term combinations, published between 1980 and August 2018 in English language reporting on dental implant-prosthetic rehabilitation of patients with oLp, Pe, EB, SjS, sLE, sSc, study design, age, gender, follow-up period (≥ 12 months), implant survival rate. …
Congenital myopathy and epidermolysis bullosa due to PLEC variant
2021
Abstract We report on an adult Turkish patient with mild myopathy with a fiber-type disproportion and mitochondrial disorganization caused by genetic variants in the plectin gene (PLEC). Molecular genetic panel testing revealed two homozygous variants in PLEC (NM_000445.4): c.8306C>G (p.Pro2769Arg) and c.7506 + 5C>G (p. ?) that were classified as variants of unknown significance (class 3) following ACMG guidelines for variant classification in genetic diagnostics. A thorough reassessment of the patient revealed mild skin blistering (epidermolysis bullosa simplex, EBS). This illustrates the importance of deep phenotyping of neuromuscular patients.