Applications of electron microscopy in health: the example of epidermolysis bullosa

We report the case of a patient with dystrophic epidermolysis bullosa (DEB) diagnosed by transmission electron microscopy (TEM), emphasizing the applications and importance of this technique in the health area. The patient was a male, the only child of young and non-consanguineous parents without similar cases in the family. The patient underwent a cutaneous biopsy in which TEM revealed sub-basal membrane involvement, confirming the diagnosis of DEB. Despite technological advances, TEM continues to play an important role in diagnosis and clinical research and is considered the best option for confirmation of diagnosis and subtypes of diseases such as epidermolysis bullosa (EB).RESUMO Relatamos o caso de um paciente com epiderm ólise bolhosa distrófica (EBD) diagnosticado por microscopia eletrônica de transmissão (MET), destacando aplicações e importância desta técnica na área da saúde. Paciente do sexo masculino, filho único de pais jovens não consanguíneos, sem histórico de caso familial. O paciente foi sub metido à biópsia cutânea, na qual a MET revelou comprometimento da membrana sub-basal, confirmando o diagnóstico de EBD. Apesar dos avanços tecnológicos, a MET continua tendo papel importante no diagnóstico e na pesquisa clínica, sendo considerada a melhor opção para a confirmação do dia gn&oacut...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - Category: Pathology Source Type: research

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Two papers in this issue highlight gene therapy for  skin fragility diseases. March and colleagues employed the transcription activator-like effector nuclease to disrupt dominant-negative epidermolytic ichthyosis–causing mutations in keratin 10 (KRT10) alleles in keratinocytes, showing abrogation of disease phenotypes in a murine model. Takashima and colleagues employed a different nuclease system, CRISPR/Cas9, to co-opt non-homologous end-joining to correct a common frameshift mutation in one of the alleles of the collagen type VII (COL7A1) gene, restoring COL7A1 expression in recessive dystrophic epidermolysis...
Source: Journal of Investigative Dermatology - Category: Dermatology Tags: Editorial Source Type: research
Recessive dystrophic epidermolysis bullosa (RDEB) is a debilitating genodermatosis caused by loss-of-function mutations in COL7A1 encoding type VII collagen (C7), the main component of anchoring fibrils (AFs) at the dermal-epidermal junction (DEJ).With no curative treatments presently available, retrovirally-transduced autologous epidermal grafts and intradermal lentivirally-engineered fibroblast injections are being investigated. Alternative approaches aim to infuse allogeneic mesenchymal stromal cells (MSCs) to provide a more generalised treatment for RDEB.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Original Article Source Type: research
Diacerein ointment, an investigational rhein prodrug for the treatment of epidermolysis bullosa, was granted FDA Rare Pediatric Disease and Fast Track development designation in 2018.Skin Therapy Letter
Source: Medscape Today Headlines - Category: Consumer Health News Tags: Dermatology Journal Article Source Type: news
Biallelic KRT5 mutations in epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out". Matrix Biol. 2019 Jul 11;: Authors: Vahidnezhad H, Youssefian L, Daneshpazhooh M, Mahmoudi H, Kariminejad A, Fischer J, Christiansen J, Schneider H, Guy A, Liu L, McGrath JA, Has C, Uitto J Abstract Epidermolysis bullosa simplex (EBS) is usually inherited as an autosomal dominant disease due to monoallelic gain-of-function mutations in KRT5 and KRT14. Although autosomal recessive forms of EBS have been associated with mutations in at least 10 genes, recessive EBS due to homozygous bia...
Source: Matrix Biology - Category: Molecular Biology Authors: Tags: Matrix Biol Source Type: research
Abstract The blistering disease Recessive Dystrophic Epidermolysis Bullosa (RDEB) is caused by mutations in the gene encoding collagen VII (COL7), which forms anchoring fibrils that attach the epidermis to the dermis. Cutaneous gene therapy to restore COL7 expression in RDEB patient cells has been proposed, and cultured epithelial autograft containing COL7-modified keratinocytes was previously tested in clinical trials. Because COL7 in normal skin is expressed in both fibroblasts and keratinocytes, cutaneous gene therapy using a bilayer skin substitute may enable faster restoration of anchoring fibrils. Hypothetic...
Source: Cell Transplantation - Category: Cytology Authors: Tags: Cell Transplant Source Type: research
CONCLUSION: This study highlights a suggestive clinical presentation of Chikungunya diseases combining pain, fever, tachycardia, foot and/or hand edema. Lymphopenia, monocytosis, and the absence of thrombocytopenia were relevant biological signs. PMID: 31281036 [PubMed - as supplied by publisher]
Source: Archives de Pediatrie - Category: Pediatrics Authors: Tags: Arch Pediatr Source Type: research
Clinical / Medical
Source: FDA Center for Drug Evaluation and Research - What's New - Category: Drugs & Pharmacology Authors: Source Type: news
Autoimmune bullous dermatoses (AIBD) are characterized by circulating autoantibodies that are either directed against epidermal antigens or deposited as immune complexes in the basement membrane zone. The complement system (CS) can be activated by autoantibodies, thereby triggering activation of specific complement pathways. Local complement activation induces a pathogenic inflammatory response that eventually results in the formation of a sub- or intraepidermal blister. Deposition of complement components is routinely used as a diagnostic marker for AIBD. Knowledge from different animal models mimicking AIBD and depositio...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
WARNING, GRAPHIC CONTENT: Phoebe Crowson, of Peterborough, has had her childhood 'robbed' by the condition epidermolysis bullosa, diagnosed at birth.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
Authors: Reimer A, Has C Abstract Syndromic disorders with skin fragility belong to different groups of genodermatoses: epidermolysis bullosa (EB), Ehlers-Danlos syndrome and porphyria. The genetic defects mainly concern structural proteins which assure the mechanical stability of the skin and other tissues. Depending on the expression pattern of the affected protein in the skin, cutaneous fragility may manifest as superficial erosions, blisters, wounds, wound healing defects or scars. Extracutaneous manifestations are manifold and involve the heart, skeletal muscles, intestine, kidneys, blood vessels or the skelet...
Source: Der Hautarzt: Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete - Category: Dermatology Tags: Hautarzt Source Type: research
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