Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0235108 (tense)
 2,176 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Epidermolysis bullosa acquisita is an acquired blistering skin disease caused by autoantibodies to the dermoepidermal junction of the skin. Patients present with tense bullae over areas of trauma, commonly the palms, soles, elbows, and knees. When the lesions heal, they leave a dense scar. In the head and neck, bullae in the buccal mucosa and the cervical esophagus cause strictures. To our knowledge, this is the first reported case of epidermolysis bullosa acquisita of the larynx. The patient had severe supraglottic stenosis that was caused by the trauma of a routine intubation. We describe the clinical and histologic characteristics of the disease and suggest managing the strictures with balloon dilation to minimize trauma and prevent further lesions and scarring.
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PMID:Laryngeal manifestations of epidermolysis bullosa acquisita. 764 56

Epidermolysis bullosa acquisita (EBA) is an acquired subepidermal bullous disease characterized by IgG autoantibodies directed against type VII collagen, the major component of anchoring fibrils. The classical phenotype of EBA is a non-inflammatory, mechanobullous disease resembling the dystrophic forms of inherited epidermolysis bullosa. Mucous membrane involvement is frequent but usually mild. We report a 1-year-old girl suffering from IgA-EBA, who presented with an initial eruption of disseminated urticarial lesions and tense blisters of the skin but subsequently developed severe oral and ocular lesions reminiscent of cicatricial pemphigoid. Direct immunofluorescence of the skin and buccal mucosa revealed linear IgA and C3 at the basement membrane zone (BMZ). IgA anti-BMZ autoantibodies stained the dermal side of salt-split skin by indirect immunofluorescence and recognized a dermal protein of 290 kDa co-migrating with type VII collagen by immunoblotting. Direct and indirect immunoelectron microscopy revealed IgA deposits overlying the anchoring fibrils. The ocular involvement led to total blindness in spite of intense treatment. This case of childhood IgA-EBA is particularly striking because of the cicatricial pemphigoid phenotype with severe ocular involvement which resulted in blindness. It reinforces the necessity to use modern immunological methods to classify autoimmune bullous diseases in order to allow early and appropriate treatment.
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PMID:IgA-epidermolysis bullosa acquisita in a child resulting in blindness. 929 80

Epidermolysis bullosa acquisita and bullous systemic lupus erythematosus are autoimmune bullous disorders, with tissue-bound and circulating autoantibodies reactive with the noncollagenous NC1 domain of type VII collagen (C-VII). Here, we describe a novel acquired bullous dermatosis with autoantibodies against the triple-helical domain of C-VII. Three patients, all Japanese children, presented with widespread inflammatory tense blisters. Histologically, subepidermal tissue separation was noted with inflammatory infiltrate in the superficial dermis. Direct immunofluorescence staining revealed linear IgG/C3 deposits along the dermal-epidermal junction. Circulating IgG anti-basement membrane zone autoantibodies stained the dermal side of normal skin separated with 1 M NaCl. Direct and indirect immunoelectron microscopy using colloidal gold labeling showed that patient sera reacted with anchoring fibrils. The gold particles were localized both near the lamina densa and on the central banded portion of the fibrils. The sera reacted with C-VII in immunoblots. Epitope analyses with natural and recombinant fragments of C-VII disclosed that the sera did not recognize the NC1 domain of C-VII, but the central triple-helical domain of this anchoring fibril protein. Thus, the present probands show a hitherto unrecognized variant of epidermolysis bullosa acquisita, with autoantibodies against epitopes in the collagenous domain of C-VII.
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PMID:A novel variant of acquired epidermolysis bullosa with autoantibodies against the central triple-helical domain of type VII collagen. 942

Epidermolysis bullosa acquisita (EBA) is rarely reported in childhood, but we now describe a 6-year-old Korean girl with the condition. She presented with multiple tense bullae annularly distributed on the perioral, periorbital and genital areas, and was successfully treated with dapsone. The clinical and histological features were similar to those of chronic bullous dermatosis of childhood. We review seven previously reported childhood EBA cases and contrast their features with those of adult EBA. We suggest that some childhood EBA is different from the adult form and shares features with chronic bullous dermatosis of childhood.
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PMID:Epidermolysis bullosa acquisita in childhood--a case mimicking chronic bullous dermatosis of childhood. 953 42

Epidermolysis bullosa acquisita (EBA) is a subepidermal autoimmune blistering disease that is rarely reported in childhood. We describe a nine-month-old mulatto boy presenting with multiple, annular, widespread, tense blisters and oral lesions. The diagnosis of EBA was confirmed by histopathology, immunofluorescence, and immunoblotting analysis. The patient was successfully treated with systemic steroids (prednisone) and dapsone. After 20 months of initial treatment, clinical remission was observed, and dapsone remains as the current treatment. This case report emphasizes the rarity of EBA in childhood and the difficulties in reaching the final diagnosis.
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PMID:Epidermolysis bullosa acquisita in childhood. 1269 60

Elderly individuals are susceptible to autoimmune bullous dermatoses (in particular, pemphigoid, epidermolysis bullosa acquisita and paraneoplastic pemphigus). Bullous dermatoses are associated with high morbidity and mortality. Bullous dermatoses result from autoimmune responses to one or more components of the basement membrane or desmosomes. Pemphigoid results from autoimmunity to hemidesmosomal proteins present in the basement membrane of stratified squamous epithelia. Patients present with tense blisters in flexural areas of the skin. Mild or moderate bullous pemphigoid may be treated with potent topical corticosteroids while extensive disease usually requires systemic corticosteroids or systemic immunosuppressive agents such as azathioprine. Mucosal pemphigoid affects one or more mucous membranes that are lined by stratified squamous epithelia. The two most commonly involved sites are the eye and the oral cavity. Lesions frequently result in scar formation, which may cause blindness. Patients with severe disease or ocular involvement require aggressive therapy with corticosteroids and cyclophosphamide. Epidermolysis bullosa acquisita results from autoimmunity to type VII collagen in the anchoring fibrils of the basement membrane area. Lesions may either arise on an inflammatory base or be non-inflammatory and result primarily from trauma. The inflammatory type of the disease is more responsive to therapy than the non-inflammatory type. Treatment options include corticosteroids, dapsone, cyclosporin, plasmapheresis and immunoglobulin G. Paraneoplastic pemphigus results from autoimmunity to multiple antigens within the desmosomes. The disorder is associated with neoplasms, especially leukaemia and lymphoma. Patients present with severe stomatitis and polymorphous skin eruption. The mucosal and cutaneous involvement may respond to successful treatment of the underlying neoplasm or may require immunosuppressive therapy.
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PMID:Autoimmune bullous dermatoses in the elderly: diagnosis and management. 1283 Dec 91

Epidermolysis bullosa acquisita (EBA) is an acquired subepidermal bullous disease characterized by IgG autoantibodies to type VII collagen, a major component of anchoring fibrils. Most patients with EBA are adult and develop autoantibodies to the noncollagenous (NC) 1 domain of type VII collagen. We describe a 4-year-old Japanese boy presenting pruritic vesicles and tense blisters over his whole body. Immunofluorescence studies revealed linear IgG/C3 deposits along the dermal-epidermal junction of the patient's skin, and circulating IgG autoantibodies mapping to the dermal side of 1 M NaCl-split skin. By immunoblotting analysis using dermal extracts as a substrate, the patient's IgG antibodies labelled a 290-kDa protein corresponding to type VII collagen. Immunoblotting studies using recombinant proteins demonstrated that the patient's circulating autoantibodies recognized not only the NC1 but also the NC2 domain of type VII procollagen. Review of the previously reported cases and the present case suggested that patients with EBA with autoantibodies to regions other than the NC1 domain are all children younger than 10 years of age with clinical features of an inflammatory phenotype.
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PMID:Childhood epidermolysis bullosa acquisita with autoantibodies against the noncollagenous 1 and 2 domains of type VII collagen: case report and review of the literature. 1703 40

Elderly individuals are susceptible to autoimmune bullous dermatoses (ABDs), which may be associated with high morbidity and mortality. ABDs result from an autoimmune response to components of the basement membrane zone at the dermal-epidermal junction or desmosomes. Bullous pemphigoid results from autoimmunity to hemidesmosomal proteins present in the basement membrane of stratified squamous epithelia. Patients present with tense blisters in flexural areas of the skin. Mild disease may be treated with potent topical corticosteroids, while extensive disease usually requires systemic corticosteroids or systemic immunosuppressive agents such as azathioprine. Mucosal pemphigoid affects one or more mucous membranes that are lined by stratified squamous epithelia. The two most commonly involved sites are the eye and the oral cavity. Lesions frequently result in scar formation that may cause blindness. Patients with severe disease or ocular involvement require aggressive therapy with corticosteroids and cyclophosphamide. Epidermolysis bullosa acquisita results from autoimmunity to type VII collagen in the anchoring fibrils of the basement membrane. Lesions may either arise on an inflammatory base or be non-inflammatory and result primarily from trauma. Treatment options include corticosteroids, dapsone, ciclosporin, methotrexate and plasmapheresis/immunoapheresis. Paraneoplastic pemphigus results from autoimmunity to multiple desmosomal antigens. The disorder is associated with neoplasms, especially leukaemia, lymphoma and thymoma. Patients present with stomatitis and polymorphous skin eruption. The disease may respond to successful treatment of the underlying neoplasm or may require immunosuppressive therapy.
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PMID:Autoimmune bullous dermatoses in the elderly: an update on pathophysiology, diagnosis and management. 2003 Apr 29

Epidermolysis bullosa acquisita (EBA) is a rare, acquired, subepidermal blistering disease characterized by autoantibodies directed against type VII collagen, the major component of anchoring fibrils. We report a 5-year-old Chinese boy who presented with extensive lesions consisting of disseminated pruritic vesicles and tense blisters. The diagnosis of EBA was confirmed by histopathology, immunofluorescence, and immunoblotting analysis. The disease was controlled with a combination of prednisone and dapsone.
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PMID:Childhood epidermolysis bullosa acquisita: report of a Chinese case. 2196

Epidermolysis bullosa acquisita (EBA) is an acquired subepidermal bullous disorder characterized by autoantibodies against Type VII collagen. It usually affects adults; childhood EBA is rare. We describe a 10-year-old girl presenting with recurrent tense blisters predominantly on legs, dorsa of hands and feet accompanied by oral erosions since the age of 5 years. Direct immunofluorescence (IF) microscopy showed linear deposition of IgG and C3 along the basement membrane zone (BMZ); indirect IF microscopy on salt-split skin revealed staining of IgG to the dermal side of the split. The patient's serum did not show BMZ staining in recessive dystrophic epidermolysis bullosa skin deficient for Type VII collagen, thus confirming autoantibody reactivity against Type VII collagen. Circulating antibodies against the immunodominant noncollagenous 1 domain of Type VII collagen were detected by ELISA and immunoblotting studies. The patient was treated with oral corticosteroids and dapsone with good improvement.
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PMID:Childhood Epidermolysis Bullosa Acquisita: Confirmation of Diagnosis by Skin Deficient in Type VII Collagen, Enzyme-linked Immunosorbent Assay, and Immunoblotting. 2729 57


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