10 results on '"bullous diseases"'
Search Results
2. Nutrition and bullous diseases.
- Author
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Stoj, Victoria and Lu, Jun
- Subjects
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BULLOUS pemphigoid , *DIET in disease , *EPIDERMOLYSIS bullosa , *SKIN proteins , *AUTOIMMUNE diseases , *PEMPHIGUS - Abstract
Although relatively uncommon, autoimmune bullous diseases carry the risk of increased mortality and can significantly impact quality of life. This group of diseases is broad and encompasses subepidermal conditions such as bullous pemphigoid, cicatricial pemphigoid, epidermolysis bullosa acquisita, dermatitis herpetiformis, and linear IgA bullous dermatosis, as well as intraepidermal conditions such as pemphigus and its variants. The pathophysiology of each condition is incompletely understood but broadly involves the formation of autoantibodies targeting skin adhesion proteins, a process that relies on a complex interplay between a dysregulated immune system, genetic predisposition, and environmental factors. We review the impact of nutrition on pathogenesis, clinical course, and treatment of various autoimmune bullous diseases. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
- View/download PDF
3. Epidermolysis Bullosa Simplex: Disorder of Tissue Fragility.
- Author
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Sadighi, Tammy and Swayne, Cheryl
- Subjects
WOUND healing ,BIOPSY ,CONTINUING education units ,QUALITY of life ,EPIDERMOLYSIS bullosa ,PATIENT education ,RARE diseases ,WOUND care - Abstract
Epidermolysis bullosa simplex (EBS) is a rare autosomal dominant, genetic condition where bullous lesions, larger than 0.5 cm, affect an area of the skin that is exposed to mechanical friction or minor trauma. Prevention of the bullous lesions starts with family and patient education, with infants requiring greater care and control of their environment. Every individual with EBS will have a treatment plan specifically tailored to the severity and extent of skin involvement. This article provides a comprehensive overview of EBS, including diagnostic approach, preventative considerations, and current treatments. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
- View/download PDF
4. Dermal eosinophilic infiltrate in junctional epidermolysis bullosa.
- Author
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Saraiya, Ami, Yang, Catherine S., Kim, Jinah, Bercovitch, Lionel, Robinson‐Bostom, Leslie, and Telang, Gladys
- Subjects
- *
EPIDERMOLYSIS bullosa , *SKIN disease genetics , *COLLAGEN , *MICROSCOPY , *DIFFERENTIAL diagnosis , *EOSINOPHILS - Abstract
Junctional epidermolysis bullosa (JEB) is a rare genodermatosis characterized by a split in the lamina lucida usually because of mutations in LAMA3, LAMB3 and LAMC2 resulting in absence or reduction of laminin-332. Rare subtypes of JEB have mutations in COL17A1, ITGB4, ITGA6 and ITGA3 leading to reduction or dysfunction of collagen XVII, integrin α6β4 and integrin α3. The classic finding under light microscopy is a paucicellular, subepidermal split. We describe the unusual presence of an eosinophilic infiltrate in the bullae and subjacent dermis in a neonate with JEB, generalized intermediate (formerly known as non-Herlitz-type JEB), discuss the histologic differential diagnosis for a subepidermal blister in a neonate, review the literature regarding cases of epidermolysis bullosa (EB) presenting with inflammatory infiltrates, and discuss mechanisms to explain these findings. This case highlights that eosinophils can rarely be seen in EB and should not mislead the dermatopathologist into diagnosing an autoimmune blistering disorder. [ABSTRACT FROM AUTHOR]
- Published
- 2015
- Full Text
- View/download PDF
5. Recombinant IL-6 treatment protects mice from organ specific autoimmune disease by IL-6 classical signalling-dependent IL-1ra induction
- Author
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Samavedam, Unni Krishna S.R.L., Kalies, Kathrin, Scheller, Jürgen, Sadeghi, Hengameh, Gupta, Yask, Jonkman, Marcel F., Schmidt, Enno, Westermann, Jürgen, Zillikens, Detlef, Rose-John, Stefan, and Ludwig, Ralf J.
- Subjects
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INTERLEUKIN-6 , *LABORATORY mice , *AUTOIMMUNE diseases , *CELLULAR signal transduction , *CYTOKINES , *EPIDERMOLYSIS bullosa , *AUTOANTIBODIES , *DRUG administration - Abstract
Abstract: Cytokines are key regulators of physiological inflammatory responses, while aberrant cytokine expression contributes to pathogenesis of autoimmune diseases. We noted increased IL-6 levels in human and murine epidermolysis bullosa acquisita (EBA), a prototypic organ-specific autoimmune bullous dermatoses (AIBD) induced by autoantibodies to type VII collagen (COL7). In contrast to rheumatoid arthritis, blockade of IL-6 led to strikingly enhanced experimental EBA, while treatment with recombinant IL-6 was protective. This was due to classical IL-6 signalling and independent of IL-6 trans-signalling, as treatment of mice with sgp130Fc had no impact on EBA manifestation. Induction of EBA in mice led to increased IL-1ra levels in skin and serum, while blockade of IL-6 completely inhibited IL-1ra expression induced by autoantibodies to COL7. In line, treatment of mice with EBA with recombinant IL-6 induced IL-1ra concentrations exceeding those of untreated animals with EBA, and IL-1ra (anakinra) administration significantly impaired experimental EBA induction. We here identified a novel anti-inflammatory pathway in an organ-specific autoimmune disease. Modulation of this IL-1ra pathway by classical IL-6 signalling demonstrates anti-inflammatory and protective activities of IL-6 in vivo. [Copyright &y& Elsevier]
- Published
- 2013
- Full Text
- View/download PDF
6. Kalıtsal Büllü Hastalıklar.
- Author
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Karaduman, Ayşen
- Subjects
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SKIN disease genetics , *EPIDERMOLYSIS bullosa , *GENETIC disorders , *SKIN diseases , *SYMPTOMS , *GENETICS - Abstract
Epidermolysis bullosa (EB), refers to a group of inherited bullous disorders, characterized by fagility of the skin and mucous membranes, and blister formation in response to minor friction or trauma. Skin fragility and bulla formation of EB result from genetic mutations of any of dozen genes that encode structural proteins which normally reside within the epidermis, the dermo-epidermal juntion, or the upper dermis. There are four major type of inherited epidermolysis bullosa: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler syndrome. [ABSTRACT FROM AUTHOR]
- Published
- 2011
- Full Text
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7. Dental treatment in a patient with epidermolysis bullosa.
- Author
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Siqueira, Maria Alice, De Souza Silva, Juliana, De Paula e Silva, Francisco Wanderley Garcia, Díaz-Serrano, Kranya Victória, De Freitas, Aldevina Campos, and De Queiroz, Alexandra Mussolino
- Subjects
EPIDERMOLYSIS bullosa ,ANKYLOGLOSSIA ,MUCOUS membranes ,DENTAL care ,SKIN disease genetics - Abstract
Epidermolysis bullosa (EB) is a rare inherited group of genodermatoses characterized by mucocutaneous fragility and blister formation, either spontaneously or as a result of minimal mechanical trauma. The repetition of these episodes in the oral cavity leads to atrophy of the mucosa, causing microstomia, ankyloglossia, tongue denudation, and vestibule obliteration, characteristics that make dental treatment difficult. Patients with EB are at high risk for caries due to the presence of dental anomalies; they also tend to have a soft diet and difficulties with mechanical removal of the dental biofilm. This case report presents a patient diagnosed with EB and describes the difficulties faced by the clinician during dental treatment as well as the measures adopted to safely manage the patient's dental care. [ABSTRACT FROM AUTHOR]
- Published
- 2008
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8. Epidermolysis Bullosa Simplex: Recurrent and De Novo Mutations in the KRT5 and KRT14 Genes, Phenotype/Genotype Correlations, and Implications for Genetic Counseling and Prenatal Diagnosis.
- Author
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Pfendner, Ellen G., Sadowski, Sara G., and Uitto, Jouni
- Subjects
- *
EPIDERMOLYSIS bullosa , *KERATINOCYTES , *DNA , *KERATIN , *GENETIC mutation , *GENETIC counseling - Abstract
Epidermolysis bullosa simplex (EBS) is a mechano-bullous disorder characterized by intraepidermal blistering within the basal keratinocytes as a result of trauma to the skin. As part of the DNA diagnostics program, our laboratory has analyzed a cohort of 57 patients with the initial referral diagnosis of EBS. Among these patients, 18 were found to harbor heterozygous mutations in the keratin 5 or keratin 14 genes, KRT5 and KRT14, respectively, whereas in 14 cases, the disease was associated with mutations in both alleles of the plectin gene. Among the keratin mutations, 12 were distinct and six were novel, and in most cases there was no family history of a blistering disease. Prenatal diagnosis of eight pregnancies with keratin gene mutations, at risk for EBS either because one of the parents was affected (three cases) or history of a previously affected child as a result of a de novo mutation (five cases), predicted two fetuses being affected and six being normal. No recurrence of the de novo mutations in these pregnancies was disclosed. Collectively, the data suggest that a significant number of cases diagnosed as EBS are due to plectin mutations, and many cases result from de novo mutations in KRT5 and KRT14 genes. These findings have implications for genetic counseling and prenatal diagnosis for EBS. [ABSTRACT FROM AUTHOR]
- Published
- 2005
- Full Text
- View/download PDF
9. Autoantibodies to extracellular collagen matrix components in epidermolysis bullosa and other bullous diseases.
- Author
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Gay, S., Fine, J., and Storer, J.
- Abstract
In order to determine whether autoantibodies are present in sera from normal individuals and/or patients with selected bullous disorders, a highly sensitive solid-phase radioimmune assay was established using purified native collagen types I-VI, laminin, and fibronectin as substrates. Sixty-four sera were utilized, representing 12 normal controls as well as 4 patients with extensive thermal burns, 18 with autoimmune bullous diseases (11 bullous pemphigoid, 5 pemphigus vulgaris, and 2 epidermolysis bullosa acquisita), and 30 with non-autoimmune mechanobullous diseases [epidermolysis bullosa (EB): 20 simplex, 4 junctional, and 6 dystrophic]. In general, autoantibodies to types I, II, and VI collagen and fibronectin were undetectable in any of the patient or control groups. In contrast, autoantibodies to types III and V collagen were noted in 87.5% (28/32) and 90.6% (29/32) of EB sera, respectively, while being only rarely noted in sera from other patient groups. Similarly, autoantibodies to type IV collagen and laminin were detected in 50% (16/32) and 40.6% (13/32) of EB sera, especially from patients with simplex and dystrophic forms of the disease. These data suggest that selected interstitial and basement membrane-associated collagens and laminin may become autoimmunogenic in all three forms of inherited EB in contrast to their relative lack of immunogenicity in at least some of the other intraepidermal and subepidermal blistering disorders. The role, if any, of these autoantibodies in the induction or perpetuation of blistering in EB awaits further studies. [ABSTRACT FROM AUTHOR]
- Published
- 1988
- Full Text
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10. Epidermolysis Bullosa Simplex: Recurrent and De Novo Mutations in the KRT5 and KRT14 Genes, Phenotype/Genotype Correlations, and Implications for Genetic Counseling and Prenatal Diagnosis
- Author
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Ellen G Pfendner, Sara Sadowski, and Jouni Uitto
- Subjects
Keratin 14 ,Genotype ,bullous diseases ,Genetic counseling ,Prenatal diagnosis ,Genetic Counseling ,Dermatology ,Gene mutation ,medicine.disease_cause ,Biochemistry ,Cohort Studies ,030207 dermatology & venereal diseases ,03 medical and health sciences ,Epidermolysis bullosa simplex ,0302 clinical medicine ,Intermediate Filament Proteins ,Recurrence ,medicine ,Humans ,epidermolysis bullosa ,Molecular Biology ,030304 developmental biology ,Genetics ,0303 health sciences ,Mutation ,prenatal diagnosis ,integumentary system ,business.industry ,Keratin-14 ,Cell Biology ,medicine.disease ,3. Good health ,Keratin 5 ,Phenotype ,Epidermolysis Bullosa Simplex ,Keratin-5 ,Keratins ,Plectin ,Epidermolysis bullosa ,business - Abstract
Epidermolysis bullosa simplex (EBS) is a mechano-bullous disorder characterized by intraepidermal blistering within the basal keratinocytes as a result of trauma to the skin. As part of the DNA diagnostics program, our laboratory has analyzed a cohort of 57 patients with the initial referral diagnosis of EBS. Among these patients, 18 were found to harbor heterozygous mutations in the keratin 5 or keratin 14 genes, KRT5 and KRT14, respectively, whereas in 14 cases, the disease was associated with mutations in both alleles of the plectin gene. Among the keratin mutations, 12 were distinct and six were novel, and in most cases there was no family history of a blistering disease. Prenatal diagnosis of eight pregnancies with keratin gene mutations, at risk for EBS either because one of the parents was affected (three cases) or history of a previously affected child as a result of a de novo mutation (five cases), predicted two fetuses being affected and six being normal. No recurrence of the de novo mutations in these pregnancies was disclosed. Collectively, the data suggest that a significant number of cases diagnosed as EBS are due to plectin mutations, and many cases result from de novo mutations in KRT5 and KRT14 genes. These findings have implications for genetic counseling and prenatal diagnosis for EBS.
- Full Text
- View/download PDF
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