-
Anais Brasileiros de Dermatologia 2022Epidermolysis bullosa acquisita is a rare autoimmune disease, characterized by the synthesis of anti-collagen VII autoantibodies, the main component of hemidesmosome...
Epidermolysis bullosa acquisita is a rare autoimmune disease, characterized by the synthesis of anti-collagen VII autoantibodies, the main component of hemidesmosome anchoring fibrils. The antigen-antibody binding elicits a complex inflammatory response, which culminates in the loss of dermo-epidermal adhesion of the skin and/or mucous membranes. Skin fragility with bullae, erosions, and milia in areas of trauma characterizes the mechanobullous form of the disease. In the inflammatory form of epidermolysis bullosa acquisita, urticarial inflammatory plaques with tense bullae, similar to bullous pemphigoid, or mucosal lesions can determine permanent scars and loss of functionality in the ocular, oral, esophageal, and urogenital regions. Due to the similarity of the clinical findings of epidermolysis bullosa acquisita with other diseases of the pemphigoid group and with porphyria cutanea tarda, the diagnosis is currently confirmed mainly based on the clinical correlation with histopathological findings (pauci-inflammatory subepidermal cleavage or with a neutrophilic infiltrate) and the demonstration of the presence of anti-collagen VII IgG in situ by direct immunofluorescence, or circulating anti-collagen VII IgG through indirect immunofluorescence and/or ELISA. There is no specific therapy for epidermolysis bullosa acquisita and the response to treatment is variable, usually with complete remission in children and a worse prognosis in adults with mucosal involvement. Systemic corticosteroids and immunomodulators (colchicine and dapsone) are alternatives for the treatment of mild forms of the disease, while severe forms require the use of corticosteroid therapy associated with immunosuppressants, intravenous immunoglobulin, and rituximab.
Topics: Adult; Autoantibodies; Autoimmune Diseases; Blister; Child; Epidermolysis Bullosa Acquisita; Humans; Immunoglobulins, Intravenous; Pemphigoid, Bullous
PubMed: 35701269
DOI: 10.1016/j.abd.2021.09.010 -
Anais Brasileiros de Dermatologia 2020Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and mucous membranes in response to minimal... (Review)
Review
Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and mucous membranes in response to minimal trauma. Epidermolysis bullosa is clinically and genetically very heterogeneous, being classified into four main types according to the layer of skin in which blistering occurs: epidermolysis bullosa simplex (intraepidermal), junctional epidermolysis bullosa (within the lamina lucida of the basement membrane), dystrophic epidermolysis bullosa (below the basement membrane), and Kindler epidermolysis bullosa (mixed skin cleavage pattern). Furthermore, epidermolysis bullosa is stratified into several subtypes, which consider the clinical characteristics, the distribution of the blisters, and the severity of cutaneous and extracutaneous signs. Pathogenic variants in at least 16 genes that encode proteins essential for the integrity and adhesion of skin layers have already been associated with different subtypes of epidermolysis bullosa. The marked heterogeneity of the disease, which includes phenotypes with a broad spectrum of severity and many causal genes, hinders its classification and diagnosis. For this reason, dermatologists and geneticists regularly review and update the classification criteria. This review aimed to update the state of the art on inherited epidermolysis bullosa, with a special focus on the associated clinical and genetic aspects, presenting data from the most recent reclassification consensus, published in 2020.
Topics: Blister; Epidermolysis Bullosa; Epidermolysis Bullosa Dystrophica; Epidermolysis Bullosa, Junctional; Humans; Skin
PubMed: 32732072
DOI: 10.1016/j.abd.2020.05.001 -
Ugeskrift For Laeger Nov 2017Epidermolysis bullosa (EB) is a rare genodermatosis. A new classification system is presented, distinguishing the subtypes of EB, and this system is based on the... (Review)
Review
Epidermolysis bullosa (EB) is a rare genodermatosis. A new classification system is presented, distinguishing the subtypes of EB, and this system is based on the phenotype, mode of inheritance, ultrastructure, immunofluorescence findings, and specific mutation(s) present. EB is inherited in an autosomal dominant or -recessive fashion. Clinical manifestations vary in severity and character according to subtype. The severity ranges from mild localized to life-threatening. Available treatment is mainly symptomatic with therapeutic treatment in an experimental stage.
Topics: Epidermolysis Bullosa; Genetic Predisposition to Disease; Humans; Mutation; Phenotype
PubMed: 29208193
DOI: No ID Found -
Clinics in Dermatology 2012Epidermolysis bullosa acquisita (EBA) is a rare, acquired, chronic subepidermal bullous disease of the skin and mucosa characterized by autoantibodies to type VII... (Review)
Review
Epidermolysis bullosa acquisita (EBA) is a rare, acquired, chronic subepidermal bullous disease of the skin and mucosa characterized by autoantibodies to type VII collagen (C7) structures, a major component of anchoring fibrils, which attach the epidermis to the dermis. EBA patients have tissue-bound and circulating antitype C7 autoantibodies that attack type C7 and result in a reduction or perturbation of normally functioning anchoring fibrils. Patients with EBA have skin fragility, blisters, erosions, scars, milia, and nail loss, all features reminiscent of genetic dystrophic epidermolysis bullosa. These immunoglobulin G antitype C7 antibodies are pathogenic, because when they are injected into mice, the mice develop an EBA-like blistering disease. In addition to the classical mechanobullous presentation, EBA also has several other distinct clinical syndromes similar to bullous pemphigoid, Brunsting-Perry pemphigoid, or cicatricial pemphigoid. Although treatment for EBA is often unsatisfactory, some therapeutic success has been achieved with colchicine, dapsone, plasmapheresis, photopheresis, infliximab, and intravenous immunoglobulin.
Topics: Adrenal Cortex Hormones; Animals; Autoantibodies; Collagen Type VII; Cyclosporine; Dapsone; Enzyme-Linked Immunosorbent Assay; Epidermolysis Bullosa Acquisita; Humans; Immunoblotting; Immunoglobulin G; Immunologic Factors; Immunosuppressive Agents; Rare Diseases; Severity of Illness Index; Skin
PubMed: 22137228
DOI: 10.1016/j.clindermatol.2011.03.011 -
JNMA; Journal of the Nepal Medical... 2018Epidermolysis bullosa is a rare inherited blistering disease with an incidence of 8-10 per million live births. Dystrophic epidermolysis bullosa is a type of...
Epidermolysis bullosa is a rare inherited blistering disease with an incidence of 8-10 per million live births. Dystrophic epidermolysis bullosa is a type of epidermolysis bullosa caused by mutation in type VII collagen, COL7A1. There are 14 subtypes of dystrophic epidermolysis bullosa and 400 mutations of COL7A1. Electron microscopy is the gold standard diagnostic test but expensive. Immunofluorescence study is a suitable diagnostic alternative. Trauma prevention along with supportive care is the mainstay of therapy. Squamous cell carcinoma develops at an early age in epidermolysis bullosa than other patients, particularly in recessive dystrophic epidermolysis bullosa subtypes. Regular follow-up is imperative in detecting and preventing complications. Gene therapy, cell therapy and bone marrow transplantation are the emerging novel therapeutic innovations. Preventing possible skin and mucosal injury in patients requiring surgery should be worked on. Here, we present a case of dystrophic epidermolysis bullosa in a 26-year-old male. Keywords: blister; dystrophic epidermolysis bullosa; epidermolysis bullosa; knee disarticulation; surgery.
Topics: Adult; Amputation, Surgical; Epidermolysis Bullosa Dystrophica; Humans; Leg Injuries; Male; Multiple Trauma
PubMed: 31065125
DOI: 10.31729/jnma.3791 -
Dermatology Online Journal Dec 2017Epidermolysis bullosa acquisita (EBA) is a rare, acquired subepidermal blistering disease. EBA is characterized by autoantibodies to collagen VII,which serves to link... (Review)
Review
Epidermolysis bullosa acquisita (EBA) is a rare, acquired subepidermal blistering disease. EBA is characterized by autoantibodies to collagen VII,which serves to link the epidermis to the dermis. The two most common presentations of EBA are classical noninflammatory EBA and bullous pemphigoid-like EBA. Diagnosis of EBA can be challenging as it sharesclinical and histopathologic features with other blistering diseases. Treatment is often recalcitrant and will often necessitate multiple therapies. We presenta case of a thirty-six-year-old Chinese man with EBA and review the literature.
Topics: Adult; Anti-Inflammatory Agents; Autoantibodies; Collagen; Epidermolysis Bullosa Acquisita; Humans; Immunologic Factors; Male; Prednisone
PubMed: 29447655
DOI: No ID Found -
Orphanet Journal of Rare Diseases Sep 2021Epidermolysis bullosa (EB) is characterized by skin fragility with blister formation occurring spontaneously or following minor trauma such as gentle pressure or... (Review)
Review
Epidermolysis bullosa (EB) is characterized by skin fragility with blister formation occurring spontaneously or following minor trauma such as gentle pressure or friction. Current physiotherapy practice is based on anecdotal care, clinical expertise and creative problem solving with caregivers and individuals with EB. Evidence based intervention is needed to establish a foundation of knowledge and to guide international practitioners to create and improve standards of care to effectively work with individuals living with EB. This clinical practice guideline (CPG) was created for the purpose of providing evidence based interventions and best clinical practices for the physiotherapy management of individuals with EB. A survey was conducted within the EB community and six outcomes were identified as a priority to address in physiotherapy management, including (1) attaining developmental motor milestones, (2) identifying safe and functional mobility in the natural environment, (3) encouraging ambulation endurance, (4) supporting safe ability to bear weight, (5) improving access to physiotherapy services, and (6) optimizing interaction with the community. A systematic literature review was conducted and articles were critically analyzed by an international panel consisting of thirteen members: healthcare professionals (including physiotherapist, doctors, and occupational therapist), caregivers, and individuals with EB. Recommendations were formulated from evidence and panel consensus. An external panel of twelve were invited to improve the quality and gather feedback on draft manuscript and recommendations. This CPG describes the development of recommendations for physiotherapy management including several best practice interventions. This guideline lays the foundational work for physiotherapist throughout the world to provide high quality services while improving and maintaining functional mobility and independence within the EB community. The CPG outlines limitations in the evidence available and possible future research needed to improve physiotherapy practice.
Topics: Blister; Epidermolysis Bullosa; Humans; Medicine; Physical Therapy Modalities; Physicians
PubMed: 34593011
DOI: 10.1186/s13023-021-01997-w -
Acta Dermato-venereologica Jul 2021Epidermolysis bullosa encompasses a group of inherited blistering skin disorders. The pathogenic mutations in 10-25% of patients with epidermolysis bullosa have not been...
Epidermolysis bullosa encompasses a group of inherited blistering skin disorders. The pathogenic mutations in 10-25% of patients with epidermolysis bullosa have not been identified by Sanger sequencing. The aims of this study were to identify the pathogenic sequence alterations in a large cohort of Chinese patients with epidermolysis bullosa and to clarify the relationship between clinical phenotypes and genotypes. Whole-exome sequencing was performed on 44 pedigrees and 13 sporadic cases. The results were further confirmed by Sanger sequencing. In total, 52 mutations, comprising 19 novel and 33 previously reported mutations, were identified in 5 genes, with a mutation detection rate of 100%. A relationship between subtypes and pathogenic genes was established: 12 cases of epidermolysis bullosa simplex were associated with mutations in KRT5/14 and PLEC; one case of junctional epidermolysis bullosa carried mutations in ITGB4; and 44 cases of dystrophic epidermolysis bullosa were caused by mutations in COL7A1. The results of this study support whole-exome sequencing as a promising tool in the genetic diagnosis of epidermolysis bullosa.
Topics: China; Collagen Type VII; Epidermolysis Bullosa; Epidermolysis Bullosa Dystrophica; Epidermolysis Bullosa Simplex; Humans; Mutation; Pedigree
PubMed: 34046686
DOI: 10.2340/00015555-3843 -
Australian Journal of General Practice Mar 2023
Topics: Humans; Epidermolysis Bullosa Acquisita
PubMed: 36872089
DOI: 10.31128/AJGP-06-22-6474 -
Journal of Medical Genetics Dec 1965
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Epidermolysis Bullosa; Female; Humans; Infant; Male; Middle Aged
PubMed: 5859028
DOI: 10.1136/jmg.2.4.233