Introduction: Epidermolysis Bullosa Pruriginosa (EBP) is a rare subtype of the inherited Dystrophic ~ Epidermolysis Bullosa spectrum of diseases and results from a gene mutation in COL7AL Though predominantly an autosomal dominant disease, autosomal recessive and even sporadic have been reported. Case Summary: Case Summary:We report a case of a 12-year-old Filipino male presenting with a chronic history of numerous scratching-induced blisters predominantly distributed on the extensor aspect of his arms and legs without concomitant oral lesions, nail dystrophy, or hair findings, and without a family history of similar lesions. Histopathologic assessment, Direct Immunofluorescence (DIF), and Indirect Immunofiuorescence (IIF) showed a subepidermal split with scant inflammatory infiltrates, no immunofluorescence, and absent userrated linear immunofluorescence at the dermal-side of the Salt Split Skin slide, respectively, which were all consistent with EBP. Enzyme-Linked Immunosorbent Assay (ELISA) for Anti-Collagen VII antibodies was slightly elevated, which may suggest an alternative diagnosis of Epidermolysis Bullosa Acquisita (EBA). This slight elevation may be due to the mutated Collagen Vil protein becoming antigenic and therefore provoking an immune response. To conclusively distinguish EBP from EBA, a COL7AI gene mutation analysis was recommended. With a diagnosis of EBP cannot totally rule out EBA, the patient was initially managed with dapsone monotherapy, counseled regarding behavioral modification to reduce scratching and trauma, advised wound care and close monitoring for the development of oropharyngeal lesions, and recommended for COL7A1 genetic mutation analysis. Conclusion This report demonstrates a case of EBP with elevated Anti-Collagen VII antibodies. The diistinction between EBP and EBA is important because this changes the management: EBP is largely supportive, while EBA may benefit from immunosuppressive therapy.
Epidermolysis Bullosa Pruriginosa ; Enzyme-Linked Immunosorbent Assay ; Epidermolysis Bullosa Acquisita

Introduction: Epidermolysis Bullosa Acquisita (EBA) is a rare autoimmune blistering disease which presents in the skin and mucous membranes. The decrease in anchoring fibrils in the basement membrane zone causes separation of the epidermis from the dermis, resulting in its blistering presentation. The treatment plan will depend on the severity of the disease. The first-line treatment for mild EBA includes topical corticosteroids and immunomodulators such as dapsone and colchicine; while severe cases of EBA may be given intravenous immunoglobulins, systemic steroids, and immunosuppressants such as azathioprine and cyclophosphamide. Case Report: This is a case of a 50-year-old Filipino male who presented with a 2-year history of vesicles and tense bullae which evolved into papules, plaques and erosions with scarring and milia formation on the scalp and trauma-prone areas of the trunk and extremities. Clinical examination revealed multiple, well-defined, irregularly shaped erythematous papules and plaques with crusts, scales, erosions, pearl-like milia and scarring on the chest, back, upper, and lower extremities. The oral mucosa was moist with some ulcers on the tongue. Histopathologic examination using Hematoxylin and Eosin (H&E) stain revealed the absence of the epidermis with retention of dermal papillae suggestive of subepidermal clefting. Further examination with direct immunofluorescence (DIF) revealed monoclonal immunoglobulin (IgG) deposits demonstrating an intense linear fluorescent band at the dermoepidermal junction, consistent with Epidermolysis Bullosa Acquisita. Overall, the combined administration of prednisone, azathioprine, and colchicine resulted only in transient and incomplete resolution of lesions in this case of EBA. Conclusion The management of EBA is mostly supportive with the goal of minimizing complications. Combination treatments using steroids, colchicine, and azathioprine have been reported with various results. Its management remains challenging as most cases are refractory to treatment.
Epidermolysis Bullosa Acquisita ; bullous disease ; azathioprine ; colchicine ; prednisone

Subepidermal blistering disorders (SBD) are diseases associated with antibodies that attack structural proteins of the skin. Blister formation with widespread distribution is common in these diseases. Diagnosis of SBD is established through the demonstration of immunoglobulin deposits in the dermoepidermal junction by direct immunofluorescence microscopy, and through the presence of circulating autoantibodies by serology. Systemic corticosteroids and other immunosuppressive drugs are used to treat SBD. We present the case of a 16-year old female with a 6-week history of intensely pruritic, erythematous plaques with generalized blister formation on the face, trunk, upper extremities, and inner thighs. We diagnosed the patient as having a subepidermal blistering disorder. We placed her on a course of prednisone and azathioprine, which successfully treated her lesions.
Autoimmune Diseases ; Pemphigoid, Bullous ; Epidermolysis Bullosa Acquisita ; Fluorescent Antibody Technique, Direct ; Adrenal Cortex Hormones

Subepidermal blistering disorders (SBD) are diseases associated with antibodies that attack structural proteins of the skin. Blister formation with widespread distribution is common in these diseases. Diagnosis of SBD is established through the demonstration of immunoglobulin deposits in the dermoepidermal junction by direct immunofluorescence microscopy, and through the presence of circulating autoantibodies by serology. Systemic corticosteroids and other immunosuppressive drugs are used to treat SBD. We present the case of a 16-year old female with a 6-week history of intensely pruritic, erythematous plaques with generalized blister formation on the face, trunk, upper extremities, and inner thighs. We diagnosed the patient as having a subepidermal blistering disorder. We placed her on a course of prednisone and azathioprine, which successfully treated her lesions.
Autoimmune Diseases ; Pemphigoid, Bullous ; Epidermolysis Bullosa Acquisita ; Fluorescent Antibody Technique, Direct ; Adrenal Cortex Hormones

Epidermolysis bullosa acquisita (EBA) is an autoimmune subepidermal blistering disease characterized by the presence of circulating IgG autoantibodies to type VII collagen. Various types of autoimmune blistering disease have been reported in association with psoriasis. A 58-year-old man with a 5-year history of psoriasis vulgaris presented with painful and mildly pruritic erythematous multiple bullae and vesicles. Histopathologically, there was a subepidermal bulla with infiltration of inflammatory cells composed of neutrophils and eosinophils. The salt-split skin indirect immunofluorescence test showed IgG binding to the dermal side of the separation, and immunoblotting using normal human dermal extract revealed antibodies directed against a 290-kDa polypeptide. He was diagnosed with EBA and started medication of oral prednisolone and mycophenolate mofetil. Skin lesions were continuously regressed. Of all the autoimmune blistering diseases coexisting with psoriasis, bullous pemphigoid is the most frequent. However, a few cases of EBA associated with psoriasis have been reported in the literature. We report a rare case of EBA coexisting with psoriasis vulgaris.
Antibodies ; Autoantibodies ; Blister ; Collagen Type VII ; Eosinophils ; Epidermolysis Bullosa Acquisita* ; Epidermolysis Bullosa* ; Fluorescent Antibody Technique, Indirect ; Humans ; Immunoblotting ; Immunoglobulin G ; Middle Aged ; Neutrophils ; Pemphigoid, Bullous ; Prednisolone ; Psoriasis* ; Skin

OBJEVTIVETo investigate the expression of transient receptor potential lvanilloidreceptor 4 (TRPV4) protein in pemphigus vulgaris (PV), bullous pemphigoid (BP), dermatitis herpetiformis (DH), and epidermolysis bullosa acquisita (EBA), and explore the role of TRPV4 in the pathogenesis of these diseases.

METHODSTRPV4 protein in normal skin tissues and lesions of PV, BP, DH, and EBA were detected with immunohistochemistry.

RESULTSThe positivity rate of TRPV4 protein expression was 61.90% in PV, 81.81% in BP, 72.22% in DH, and 68.42% in EBA. TRPV4-positive rates in these lesions were significantly lower than the rate in normal skin tissues (93.33%) and also differed significantly among these lesions (PV

CONCLUSINLow TRPV4 expressions may affect the formation and reconstitution of skin connection. TRPV4 may play an role in the occurrence and development of autoimmune bullous skin disorders.

Dermatitis Herpetiformis ; metabolism ; Diagnosis, Differential ; Epidermolysis Bullosa Acquisita ; metabolism ; Humans ; Pemphigoid, Bullous ; metabolism ; Pemphigus ; metabolism ; Skin ; pathology ; TRPV Cation Channels ; metabolism

BACKGROUND: Autoimmune blistering skin diseases such as pemphigus vulgaris, pemphigus foliaceus, bullous pemphigoid and epidermolysis bullosa acquisita substantially affect patients' daily life and psychosocial well-being. OBJECTIVE: The aim of this study was to evaluate the quality of life (QOL) in patients with autoimmune blistering diseases and to identify the factors that can influence their QOL by comparing them to healthy controls. METHODS: Forty patients with autoimmune blistering skin diseases and 40 healthy controls were interviewed using the Korean version of Skindex-29. The study assessed the clinical severity of the disease. RESULTS: The total, symptom, function, and emotion scores of Skindex-29 were significantly higher in patients with autoimmune blistering skin diseases (35.28, 40.78, 30.57, and 36.67, respectively) than in the healthy controls (6.90, 9.38, 5.47, and 6.60, respectively) (p<0.001). Higher disease severity had a negative correlation with QOL in patients with blistering skin diseases, and QOL was lower when patients had low levels of satisfaction with treatment. CONCLUSION: The results show that autoimmune blistering skin diseases can affect patients' QOL. In addition, disease severity and low satisfaction with treatment are important factors that reduce QOL. Development of new treatments should improve treatment efficacy and the QOL of patients with autoimmune blistering diseases.
Blister* ; Epidermolysis Bullosa Acquisita ; Humans ; Pemphigoid, Bullous ; Pemphigus ; Quality of Life* ; Skin Diseases* ; Skin Diseases, Vesiculobullous ; Treatment Outcome

No abstract available.
Epidermolysis Bullosa Acquisita* ; Epidermolysis Bullosa*

A 52-year-old man had a twenty-five year history of recurrent bullous eruption that was localized to both cheeks. The diagnosis of epidermolysis bullosa acquisita was confirmed by means of direct immunofluorescence and salt-split direct immunofluorescence studies that were performed on the perilesional skin. The patient has been in partial remission state with the treatment of low dose dapsone (12.5~25 mg) and topical tacrolimus. Herein, we report on a case of EBA localized to the face, and it showed a favorable response to treatment with low-dose dapsone and topical tacrolimus.
Cheek ; Dapsone ; Epidermolysis Bullosa ; Epidermolysis Bullosa Acquisita ; Fluorescent Antibody Technique, Direct ; Humans ; Middle Aged ; Skin ; Tacrolimus

BACKGROUND: Autoimmune bullous diseases (ABDs) are a rare significant group of dermatoses that pose great challenges to the dermatologist. So far, few epidemiological surveys for the whole spectrum of ABDs have been completed in Korea, though many epidemiological survey have focused on single ABDs. OBJECTIVE: The aim of this study was to evaluate the incidence and clinical findings of patients in the Chonnam Province of Korea with ABDs over a 5 year period. METHODS: A retrospective analysis was conducted on 52 ABDs patients from 2002 to 2006. ABDs were diagnosed chiefly by histopathologic findings, immunofluoresence (IF), and immunoblotting with epidermal and dermal human foreskin extract. For the exact diagnosis of ABDs, several additional diagnostic methods such as indirect IF with salt-split normal skin, immunoblotting (IB) with normal keratinocyte cells, enzyme-linked immunosorbent assay (ELISA) with recombinant proteins, immunoprecipitaion (IP) were also performed. RESULTS: Out of 52 patients diagnosed with ABDs during the study period, pemphigus vulgaris was observed to be the commonest ABD (38.5%) followed by bullous pemphigoid (29.8%), pemphigus foliaceus (17.8%), epidermolysis bullosa acquisita (5.8%), paraneoplastic pemphigus, pemphigoid gestationis (3.8%), and linear IgA bullous dermatoses (1.9%). CONCLUSION: This study showed the incidence of the ABDs in Chonnam-Gwangju province area were very low (52 cases over 5 years) and was stationary over this period. Pemphigus vulgaris and bullous pemphigoid were common diseases among many ABDs. The incidence of ABDs in Korea as a whole needs to be investigated.
Enzyme-Linked Immunosorbent Assay ; Epidemiologic Studies ; Epidermolysis Bullosa Acquisita ; Female ; Foreskin ; Humans ; Immunoblotting ; Immunoglobulin A ; Incidence ; Keratinocytes ; Korea ; Pemphigoid Gestationis ; Pemphigoid, Bullous ; Pemphigus ; Recombinant Proteins ; Retrospective Studies ; Skin ; Skin Diseases ; Skin Diseases, Vesiculobullous