AI Article Synopsis
- The study examined five adult patients with the mitten deformity due to severe recessive dystrophic epidermolysis bullosa using light and electron microscopy and immunofluorescence techniques.
- While the mitten appeared separate from fixed digits, histological analysis revealed normal keratinocytes beneath a thickened outer layer, but without the necessary supporting structures for grafting.
- The absence of intact basement membranes and presence of necrotic cells indicate that the mitten cannot be used for epidermal autografts, supporting the use of split thickness skin grafts for repairing skin defects in these patients.
Article Abstract
Light and electron microscopy and indirect immunofluorescence techniques were used to study the nature of the mitten deformity in five adult patients with severe generalized recessive dystrophic epidermolysis bullosa undergoing release of hand and finger contractures. Although the mitten appeared largely to be clinically separated from the underlying fixed digits, histology showed mostly normal keratinocytes beneath a thickened stratum corneum. The lower margin of the mitten was formed just below the lamina densa of the basement membrane, at a level similar to that of the usual blister formation in this condition. No anchoring fibrils and only a few distinct dermal structures were noted. A substantial portion of the mitten, however, consisted of necrotic keratinocytes without an intact basement membrane. This finding suggests that the mitten is not suitable for use as an epidermal autograft and confirms the rationale for taking split thickness skin grafts to close skin defects in patients with recessive dystrophic epidermolysis bullosa undergoing plastic surgery.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1600-0560.1992.tb00610.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Myotonia Congenita in Australian Merino Sheep with a Missense Variant in .
Animals (Basel)
December 2024
Sydney School of Veterinary Science, The University of Sydney, Camden, NSW 2570, Australia.
Myotonia congenita is a hereditary, non-dystrophic skeletal muscle disorder associated with muscle stiffness due to delayed muscle relaxation after contraction. We review myotonia congenita in domesticated animals and humans and investigated suspected myotonia congenita in a flock of Merino sheep in Australia. In 2020, a property in New South Wales reported a four-year history of lambs that would fall on disturbance before rapidly recovering, with 13 affected sheep identified in 2020.
View Article and Find Full Text PDFAdvanced phasing techniques in congenital skin diseases.
J Dermatol
December 2024
Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Phasing, the process of determining which alleles at different loci on homologous chromosomes belong together on the same chromosome, is crucial in the diagnosis and management of autosomal recessive diseases. Advances in long-read sequencing technologies have significantly enhanced our ability to accurately determine haplotypes. This review discusses the application of low-coverage long-read sequencing, nanopore Cas9-guided long-read sequencing, and adaptive sampling in phasing, highlighting their utility in complex clinical scenarios.
View Article and Find Full Text PDFCongenital Titinopathies Linked to Mutations in Metatranscript-Only Exons.
Int J Mol Sci
December 2024
Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.
Article Synopsis
- Congenital titinopathies are inherited in an autosomal recessive pattern and primarily result from genetic variations in metatranscript (MTT)-only exons, leading to diverse clinical outcomes.
- The study analyzed 20 patients with these variants, revealing severe congenital myopathy at birth along with a wide range of associated issues like muscular weakness and respiratory problems.
- Findings underscore the importance of genotype-phenotype correlations, enhancing understanding of the genetic basis and molecular mechanisms behind these conditions.
Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa.
Eur J Hum Genet
December 2024
Laboratory of Genetic Skin Diseases, Institut Imagine, Université Paris Cité, Inserm, UMR 1163, F-75015, Paris, France.
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and most often severe genodermatosis characterized by recurrent blistering and erosions of the skin and mucous membranes after minor trauma, leading to major local and systemic complications. RDEB is caused by loss-of-function mutations in COL7A1 encoding type VII collagen (C7), the main component of anchoring fibrils which form attachment structures stabilizing the cutaneous basement membrane zone. Most of the previously reported COL7A1 mutations are located in the coding or intronic regions.
View Article and Find Full Text PDFA homozygous nonsense mutation identified in in a family with autosomal recessive dystrophic epidermolysis bullosa.
J Med Life
September 2024
Center for Genetics and Inherited Diseases, Taibah University Almadinah, Medina, Kingdom of Saudi Arabia.
Article Synopsis
- Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is a severe inherited skin disorder caused by mutations in a specific gene, presenting with symptoms like skin erosions and atrophic scars.
- A study of a four-generation consanguineous family identified a harmful genetic mutation, c.409C>T (p.Arg137*), in two patients with RDEB through whole exome sequencing (WES).
- The findings highlight the importance of WES in diagnosing complex genetic diseases and contribute to understanding the mutation spectrum of the gene in different populations.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!