Failed fiberoptic intubation in a child with epidermolysis bullosa, rescued with combined use of the Glidescope®
We present the case of a 13‐year‐old male with epidermolysis bullosa having an elective syndactyly release. These patients present significant challenges to the anaesthetist; extreme care in patient handling is required. Recurrent and pronounced scarring of intra‐oral, pharyngeal and laryngeal tissues is a feature, resulting in a difficult airway. Following a failed intubation using a fibreoptic bronchoscope, we describe a combined technique by adding in the Glidescope®. This proved immediately successful. Its utilisation has been reported in adults. We wish to present our experience in the paediatric population, and this is the first report in a child with epidermiolysis bullosa.
Condition: Recessive Dystrophic Epidermolysis Bullosa Intervention: Sponsor: Assistance Publique - Hôpitaux de Paris Not yet recruiting
Publication date: February 2020Source: Trends in Anaesthesia and Critical Care, Volume 30Author(s): Alistair Hustig, Paul Stevens
Publication date: February 2020Source: Trends in Anaesthesia and Critical Care, Volume 30Author(s): Paul Stevens, Alistair Hustig
In this study, using the immunization-induced mouse model of EBA, we demonstrate that epidermal disruption induces not only an infiltration of CD4+ T cells but also a Th1 phenotype as it has been described for delayed-type hypersensitivity reactions.
Authors: Bin Nooh DM, Hegazi TM, Bukhari IA Abstract Anonychia refers to the absence of nail plates owing to an autosomal dominant or recessive inheritance. Congenital anonychia is a rare condition that may be associated with other ectodermal or mesodermal malformations like epidermolysis bullosa, (deafness, onychodystrophy, osteodystrophy, and mental retardation) syndrome and Iso-Kikuchi syndrome. Here, we report 3 cases with anonychia congenita appearing in different generations of a single family in Kingdom of Saudi Arabia. PMID: 32020155 [PubMed - in process]
This article reviews different approaches to curative and symptom-relief therapies, and appraises their status and perspectives for clinical implementation. PMID: 32039456 [PubMed - as supplied by publisher]
Abstract Collagen XVII (COL17) is a hemidesmosomal transmembrane protein in the skin, which, in several autoimmune blistering skin diseases, may be targeted by autoantibodies. In addition, loss-of-function mutations in the COL17A1 gene induce a subtype of junctional epidermolysis bullosa. The extracellular domain of COL17 can be physiologically cleaved from the cell surface by ADAM family proteins in a process known as ectodomain shedding. COL17 ectodomain shedding is thought to be associated with the migration and proliferation of keratinocytes. Furthermore, the C-terminal cleavage of COL17 may be associated with...
CONCLUSION: The proposed classification scheme should be of value both to clinicians and researchers, emphasizing both clinical and genetic features of EB. PMID: 32017015 [PubMed - as supplied by publisher]
CONCLUSIONS: The treatment of edentulous patients with RDEB by means of implants and implant-supported prostheses is predictable as evidenced by the high success rate, and improves patient self-esteem and quality of life. PMID: 31967984 [PubMed - as supplied by publisher]
CONCLUSIONS: The selection of the gene therapy method depends on its safety profile, the target genodermatoses and the genetic mutation to correct. PMID: 31965203 [PubMed - as supplied by publisher]