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Sample records for subepidermal bullous disease

  1. The use of skin substrates deficient in basement membrane molecules for the diagnosis of subepidermal autoimmune bullous disease

    NARCIS (Netherlands)

    Vodegel, RM; Kiss, M; De Jong, MCJM; Pas, HH; Altmayer, A; Molnar, K; Husz, S; Van der Meer, JB; Jonkman, MF

    A case is presented of subepidermal, autoimmune bullous disease in which the initial examinations suggested the combination of epidermolysis bullosa acquisita and bullous pemphigoid. The diagnosis of epidermolysis bullosa acquisita was made by indirect immunofluorescence microscopy: the patient's

  2. Autoimmune Subepidermal Bullous Diseases of the Skin and Mucosae: Clinical Features, Diagnosis, and Management.

    Science.gov (United States)

    Amber, Kyle T; Murrell, Dedee F; Schmidt, Enno; Joly, Pascal; Borradori, Luca

    2017-08-04

    Autoimmune subepidermal blistering diseases of the skin and mucosae constitute a large group of sometimes devastating diseases, encompassing bullous pemphigoid, gestational pemphigoid, mucous membrane pemphigoid, epidermolysis bullosa acquisita, and anti-p200 pemphigoid. Their clinical presentation is polymorphic. These autoimmune blistering diseases are associated with autoantibodies that target distinct components of the basement membrane zone of stratified epithelia. These autoantigens represent structural proteins important for maintenance of dermo-epidermal integrity. Bullous pemphigoid (BP) is the most common subepidermal autoimmune blistering disease of the skin and mucosae. Although the disease typically presents with a generalized blistering eruption associated with itch, atypical variants with either localized bullous lesions or "non-bullous" presentations are observed in approximately 20% of patients. A peculiar form of BP typically associated with pregnancy is pemphigoid gestationis. In anti-p200 pemphigoid, patients present with tense blisters on erythematosus or normal skin resembling BP, with a predilection for acral surfaces. These patients have antibodies targeting the 200-kDa basement membrane protein. Epidermolysis bullosa is a rare autoimmune blistering disease associated with autoantibodies against type VII collagen that can have several phenotypes including a classical form mimicking dystrophic epidermolysis bullosa, an inflammatory presentation mimicking BP, or mucous membrane pemphigoid-like lesions. Mucous membrane pemphigoid (MMP) is the term agreed upon by international consensus for an autoimmune blistering disorder, which affects one or more mucous membrane and may involve the skin. The condition involves a number of different autoantigens in the basement membrane zone. It may result in severe complications from scarring, such as blindness and strictures. Diagnosis of these diseases relies on direct immunofluorescence microscopy studies

  3. AUTOIMMUNE BASEMENT MEMBRANE AND SUBEPIDERMAL BLISTERING DISEASES

    OpenAIRE

    Ana Maria Abreu Velez; Daniel Alberto Vasquez-Hincapie; Howard, Michael S.

    2013-01-01

    Autoimmune mucocutaneous blistering diseases (ABDs) represent a group of conditions that manifest with blisters on the skin and/or mucous membranes. Bullous pemphigoid (BP) is the most common autoimmune mucocutaneous blistering disease. In BP, the location of the blisters is subepidermal and the oral involvement is rare. Variants of BP have been described, including pemphigoid vegetans; however, this disease is not completely characterized. The majority of ABDs have blisters and/or vesicles, ...

  4. Salt split technique: A useful tool in the diagnosis of subepidermal bullous disorders

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    De Abhishek

    2010-01-01

    Full Text Available Background: Direct immunofluorescence (DIF is the gold standard in the diagnosis of immunobullous diseases. However, it cannot reliably differentiate various subtypes of subepidermal immune- bullous diseases (SIBD. Salt split technique (SST could be used under such circumstances to differentiate them. There is paucity of reports in the Indian literature regarding the SST. Aim: This study was designed to evaluate the utility of direct SST in subepidermal blistering diseases. Materials and Methods: Fourteen clinically diagnosed cases of subepidermal blistering diseases were included in the study. Two perilesional punch biopsies were taken one each for DIF and salt split study. Results: Linear basement membrane zone band with IgG and/or C 3 was seen in 14 cases of patients BP. Salt split study showed epidermal or mixed pattern of deposits in 12 patients and exclusive floor pattern in two patients. The diagnosis was revised in these two patients to epidermolysis bullosa acquisita. Conclusion: SST is a simple, inexpensive procedure and should be routinely employed in the diagnosis of subepidermal bullous diseases.

  5. AUTOIMMUNE BASEMENT MEMBRANE AND SUBEPIDERMAL BLISTERING DISEASES

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    Ana Maria Abreu Velez

    2013-11-01

    Full Text Available Autoimmune mucocutaneous blistering diseases (ABDs represent a group of conditions that manifest with blisters on the skin and/or mucous membranes. Bullous pemphigoid (BP is the most common autoimmune mucocutaneous blistering disease. In BP, the location of the blisters is subepidermal and the oral involvement is rare. Variants of BP have been described, including pemphigoid vegetans; however, this disease is not completely characterized. The majority of ABDs have blisters and/or vesicles, that are often pruritic, and manifest autoantibodies to diverse proteins. These proteins include 1 hemidesmosomal plaque proteins(ie, BP230, plectins, 2 transmembrane proteins such as BP180 and α6β4-integrin, which are connected via laminin 332 to type VII collagen and 3 currently uncharacterized 105 kDa and 200 kDa molecules. Other ABDs include drug-induced linear IgA disease, bullous systemic lupus erythematosus (BSLE, dermatitis herpetiformis (DH, cicatricial pemphigoid (CP; also termed mucous membrane pemphigoid, lichen planus pemphigoides (LPP, pemphigoid gestationis (PG, herpes gestationis(HG, chronic bullous dermatosis of childhood (CBDC and the localized forms of CP, such as Brunsting-Perry pemphigoid. The diagnosis of ABDs requires clinical data; skin biopsies (in 10% buffered formalin for hematoxylin and eosin (H&E examination and skin biopsies(in Michel’s transport medium for direct immunofluorescence (DIF. In many ABDs, the histopathologic findings demonstrate a subepidermal vesicle or bulla with a luminal inflammatory infiltrate of neutrophils, eosinophils and/or lymphocytes. In many ABDs, an extensive perivascular and interstitial inflammatory infiltrate is also noted subjacent to the blister in the upper dermis. Normal skin adjacent to an ABD plaque is often excellent for DIF results. Many ABD biopsies reveal autoantibody deposition at the lesional basement membrane zone (BMZ; IgG, IgM, IgA, other immunoglobulins, complement components and

  6. Subepidermal blistering induced by human autoantibodies to BP180 requires innate immune players in a humanized bullous pemphigoid mouse model.

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    Liu, Zhi; Sui, Wen; Zhao, Minglang; Li, Zhuowei; Li, Ning; Thresher, Randy; Giudice, George J; Fairley, Janet A; Sitaru, Cassian; Zillikens, Detlef; Ning, Gang; Marinkovich, M Peter; Diaz, Luis A

    2008-12-01

    Bullous pemphigoid (BP) is a cutaneous autoimmune inflammatory disease associated with subepidermal blistering and autoantibodies against BP180, a transmembrane collagen and major component of the hemidesmosome. Numerous inflammatory cells infiltrate the upper dermis in BP. IgG autoantibodies in BP fix complement and target multiple BP180 epitopes that are highly clustered within a non-collagen linker domain, termed NC16A. Anti-BP180 antibodies induce BP in mice. In this study, we generated a humanized mouse strain, in which the murine BP180NC14A is replaced with the homologous human BP180NC16A epitope cluster region. We show that the humanized NC16A (NC16A+/+) mice injected with anti-BP180NC16A autoantibodies develop BP-like subepidermal blisters. The F(ab')(2) fragments of pathogenic IgG fail to activate the complement cascade and are no longer pathogenic. The NC16A+/+ mice pretreated with mast cell activation blocker or depleted of complement or neutrophils become resistant to BP. These findings suggest that the humoral response in BP critically depends on innate immune system players.

  7. Chronic bullous disease of childhood and a paecilomyces lung infection in chronic granulomatous disease

    NARCIS (Netherlands)

    Sillevis Smitt, J. H.; Leusen, J. H.; Stas, H. G.; Teeuw, A. H.; Weening, R. S.

    1997-01-01

    A 12 year old boy suffering from p67-phox deficient chronic granulomatous disease presented with a bullous skin disease and a lung infection with paecilomyces species. The histopathology of a bullous lesion showed subepidermal blister formation and microabcesses containing eosinophils in the dermal

  8. Epidermolysis bullosa acquisita and anti-p200 pemphigoid as major subepidermal autoimmune bullous diseases diagnosed by floor binding on indirect immunofluorescence microscopy using human salt-split skin

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    Nupur Goyal

    2017-01-01

    Conclusion: In this study, we report three cases of anti-p200 pemphigoid from India. These cases, though indistinguishable clinically from bullous pemphigoid, revealed a floor-binding pattern on indirect immunofluorescence using salt-split skin.

  9. Immunofluorescence of Autoimmune Bullous Diseases

    NARCIS (Netherlands)

    Diercks, Gilles F; Pas, Hendri H; Jonkman, Marcel F

    Autoimmmune bullous diseases of skin and mucosa are uncommon, disabling, and potentially lethal diseases. For a quick and reliable diagnosis immunofluorescence is essential. This article describes two variants of immunofluorescence. The direct method uses a skin or mucosal biopsy of the patient to

  10. Spectrum of autoimmune bullous diseases in Kuwait.

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    Nanda, Arti; Dvorak, Richard; Al-Saeed, Khloud; Al-Sabah, Humoud; Alsaleh, Qasem A

    2004-12-01

    Autoimmune bullous diseases (ABDs) are a rare but significant group of dermatoses that pose great challenges to the treating dermatologist. Most epidemiological studies have focused on a single ABD. Few surveys have been carried out to describe the whole spectrum of ABDs in a region, and no such studies are available from the Arabian Peninsula. To determine the clinico-epidemiological features of various ABDs in Kuwait, and to compare the results with those reported elsewhere. A total of 128 cases of ABDs were studied over a span of 11.5 years. The diagnosis in all cases was confirmed by histopathology, and direct and indirect immunofluorescence (IMF). The diagnosis of various subepidermal ABDs was further confirmed by indirect IMF on salt-split skin (SSS) and that of pemphigus by desmoglein 1 and 3 enzyme-linked immunosorbent assay (ELISA). Eighty seven per cent of patients were of Arab ethnicity. Pemphigus was observed to be the commonest ABD (47%), followed by pemphigoid (22%), pemphigoid gestationis (PG) (19%), linear IgA bullous disease (LABD) (7%), lichen planus pemphigoides (LPP) (3%), and epidermolysis bullosa acquisita (EBA) (2.3%). The minimum estimated incidence in the local population was 4.6, 2.14, 1.83, 0.69, 0.30, and 0.23 cases per million per year, respectively. Pemphigus patients were observed to have a younger age of onset (36.50 +/- 11.36 years) than reported elsewhere. BP, although the second commonest ABD, was less prevalent than in Europe and Singapore, and BP patients were observed to have a striking female predominance (85%). The prevalence of PG was much higher than that reported elsewhere. LABD was the fourth commonest ABD, and 89% of patients were children. The study suggests that similar surveys from different regions would expand our understanding of ABD.

  11. Molecular biological aspects of acquired bullous diseases

    DEFF Research Database (Denmark)

    Dabelsteen, Erik

    1998-01-01

    of the bullous lesions. In this article, updated topics of the immune-mediated bullous lesions which involve oral mucosa and skin are reviewed. Pemphigus antigens, which are desmosomal-associated proteins and belong to the cadherin superfamily of cell adhesion proteins, have been isolated, and their genes have......Bullous diseases of the oral mucosa and skin were originally classified on the basis of clinical and histological criteria. The discovery of autoantibodies in some of these patients and the introduction of molecular biology have resulted in a new understanding of the pathological mechanisms of many...... to be the target for mutations seen in patients with the inherited type of epidermolysis bullosa in which bullous lesions are a prominent clinical feature....

  12. Bullous skin diseases: classical types of autoimmune diseases.

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    Damoiseaux, Jan

    2013-01-01

    The prototypic bullous skin diseases, pemphigus vulgaris, pemphigus foliaceus, and bullous pemphigoid, are characterized by the blister formation in the skin and/or oral mucosa in combination with circulating and deposited autoantibodies reactive with (hemi)desmosomes. Koch's postulates, adapted for autoimmune diseases, were applied on these skin diseases. It appears that all adapted Koch's postulates are fulfilled, and, therefore, these bullous skin diseases are to be considered classical autoimmune diseases within the wide and expanding spectrum of autoimmune diseases.

  13. Bullous lichen planus - a review.

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    Liakopoulou, Angeliki; Rallis, Efstathios

    2017-03-31

    Bullous lichen planus is a rare variant of lichen planus. It is characterized by vesicles or bullae, which usually develop in the context of pre-existing LP lesions. It is often misdiagnosed and should be differentiated from other subepidermal bullous diseases especially lichen planus pemphigoides. The diagnosis is based on clinical suspicion and is confirmed by histopathology and immunofluoresence. The clinical features of bullous lichen planus include typical lichen planus lesions, accompanied by the formation of bullae on the affected or perilesional skin. This is evident on histology, with alteration of the dermo-epidermal junction and intrabasal bullae as a consequence of extensive inflammation. The histologic features in conjunction with the negative immunofluoresence indicate that bullous lichen planus is a form of "hyper-reactive lichen planus" rather than a distinct entity. There is no standard treatment of bullous lichen planus. Topical and systemic corticosteroids, dapsone and acitretin have been described as effective choices.

  14. Bullous Skin Diseases: Classical Types of Autoimmune Diseases

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    Jan Damoiseaux

    2013-01-01

    Full Text Available The prototypic bullous skin diseases, pemphigus vulgaris, pemphigus foliaceus, and bullous pemphigoid, are characterized by the blister formation in the skin and/or oral mucosa in combination with circulating and deposited autoantibodies reactive with (hemidesmosomes. Koch’s postulates, adapted for autoimmune diseases, were applied on these skin diseases. It appears that all adapted Koch’s postulates are fulfilled, and, therefore, these bullous skin diseases are to be considered classical autoimmune diseases within the wide and expanding spectrum of autoimmune diseases.

  15. Linear IgA bullous dermatosis in a patient with renal cell carcinoma

    NARCIS (Netherlands)

    Van der Waal, RIF; Van de Scheur, MR; Pas, HH; Jonkman, MF; Van Groeningen, CJ; Nieboer, C; Starink, TM

    Linear IgA bullous dermatosis (LABD) is an autoimmune subepidermal bullous disease with heterogeneous clinical manifestations, characterized by linear deposition of IgA along the epidermal basement membrane zone. We report a patient with a metastasized renal cell carcinoma who developed an extensive

  16. Association between the subepidermal autoimmune blistering diseases linear IgA disease and the pemphigoid group and inflammatory bowel disease: two case reports and literature review.

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    Shipman, A R; Reddy, H; Wojnarowska, F

    2012-07-01

    We report two patients with subepidermal autoimmune blistering diseases and inflammatory bowel disease (IBD) [one with linear IgA disease (LAD) and ulcerative colitis (UC), and the other with mucous membrane pemphigoid (MMP) and Crohn disease (CD)], and present a review of all previously reported cases. We reviewed the literature, and found 48 cases of patients with autoimmune blistering diseases and IBD. The blistering diseases were LAD (25 patients), bullous pemphigoid (BP) (21), MMP (1) and pemphigoid gestationis (1), while the IBD types comprised UC (40) and CD (8). We describe the clinical and immunopathological features and demographic characteristics of the patients. In all but one case, the diagnosis of IBD predated the development of the skin condition. The association was more common with LAD than BP. The immunopathogenesis of IBD and autoimmune blistering diseases is discussed and a link between them hypothesized, namely, that the presentation of multiple antigens to the immune system during the unregulated inflammation in the bowel wall results in excitation of the immune system and recognition of autologous antigens. © The Author(s). CED © 2012 British Association of Dermatologists.

  17. Bullous pemphigoid associated with prostate adenocarcinoma

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    Öztürkcan Serap

    2004-01-01

    Full Text Available Bullous pemphigoid is a common autoimmune skin disease characterized by the presence of subepidermal blisters. It has been associated with underlying neoplasia in isolated reports. A 78-year-old man with generalized blisters was diagnosed as bullous pemphigoid on clinical, histopathological and direct immunofluorescence grounds. His free and total prostate specific antigen (PSA levels were high and histopathological examination of a prostate specimen revealed prostate adenocarcinoma. We present this rare case to discuss the possible association between bullous pemphigoid and prostate adenocarcinoma.

  18. Management of bullous pemphigoid : the European Dermatology Forum consensus in collaboration with the European Academy of Dermatology and Venereology

    NARCIS (Netherlands)

    Feliciani, C.; Joly, P.; Jonkman, M. F.; Zambruno, G.; Zillikens, D.; Ioannides, D.; Kowalewski, C.; Jedlickova, H.; Karpati, S.; Marinovic, B.; Mimouni, D.; Uzun, S.; Yayli, S.; Hertl, M.; Borradori, L.

    Bullous pemphigoid is the most common autoimmune subepidermal blistering disease of the skin and mucous membranes. This disease typically affects the elderly and presents with itch and localized or generalized bullous lesions. In up to 20% of affected patients, bullae may be completely absent, and

  19. Bullous Pemphigoid Induced by Vildagliptin

    OpenAIRE

    Bengür Taşkıran Bahattin; Erdoğan Canan Solak; Şişman Güven; Barış Cansu

    2016-01-01

    Bullous pemphigoid (BP) is an uncommon chronic, autoimmune, and subepidermal disease. Tense blisters occur on normal or erythematous skin. It can be induced by medications. There is a number of reports on BP induced by dipeptidyl peptidase 4 (DPP-4) inhibitors (vildagliptin, sitagliptin, saxagliptin). DPP-4 (CD26), present as a cell surface molecule on immune cells, also plays an important costimulatory role in immune activation. BP more commonly affects elderly men. We present a case of BP i...

  20. Dapsone in the management of autoimmune bullous diseases.

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    Piette, Evan W; Werth, Victoria P

    2012-05-01

    Dapsone is used in the treatment of autoimmune bullous diseases (AIBD), a group of disorders resulting from autoimmunity directed against basement membrane and/or intercellular adhesion molecules on cutaneous and mucosal surfaces. This review summarizes the limited published data evaluating dapsone as a therapy for AIBD. Copyright © 2012 Elsevier Inc. All rights reserved.

  1. Dapsone in the management of the autoimmune bullous diseases

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    Piette, Evan W.

    2013-01-01

    Synopsis Dapsone is occasionally used in the treatment of the autoimmune bullous diseases, a group of disorders resulting from autoimmunity directed against basement membrane and/or intercellular adhesion molecules on cutaneous and mucosal surfaces. This review will summarize the limited published data evaluating dapsone as a therapy for the AIBD. PMID:22560144

  2. Autoimmune bullous skin diseases. Part 1: Clinical manifestations.

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    Kneisel, Andrea; Hertl, Michael

    2011-10-01

    Autoimmune bullous skin diseases are characterized by autoantibodies against adhesion molecules of the skin. Pemphigus is a disorder with an intraepidermal loss of adhesion and is characterized by fragile blisters and erosions. Pemphigus vulgaris often shows extensive lesions of the oral mucosa, while pemphigus foliaceus is commonly restricted to cutaneous involvement with puff pastry-like scale formation. Paraneoplastic pemphigus is obligatorily associated with malignancies and often presents as hemorrhagic stomatitis with multiforme-like exanthems. IgA pemphigus typically presents with pustules and annular plaques but not with mucosal involvement. The clinical spectrum of the pemphigoids includes tense blisters, urticarial plaques, and prurigo- like eczematous lesions. Pemphigoid gestationis mostly occurs during the last trimester of pregnancy and mucous membrane pemphigoid primarily involves the oral mucosa and conjunctivae and leads to scarring. Linear IgA bullous dermatosis manifests with tense blisters in a "cluster of jewels"-like pattern in childhood and is more heterogeneous in adulthood. Classical epidermolysis bullosa acquisita shows extensive skin fragility. Dermatitis herpetiformis is associated with gluten-sensitive enteropathy and manifests clinically with severe itching and papulovesicles on the extensor surfaces of the extremities and the lumbosacral area. The intention of the review is to demonstrate the heterogeneous clinical spectrum of autoimmune bullous disorders. © The Authors • Journal compilation © Blackwell Verlag GmbH, Berlin.

  3. Autoimmune bullous skin diseases. Part 2: diagnosis and therapy.

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    Kneisel, Andrea; Hertl, Michael

    2011-11-01

    Autoimmune bullous skin diseases represent a heterogenous group of disorders of skin and mucosa which are commonly associated with IgG or IgA autoantibodies against distinct adhesion molecules of the skin. The antibodyinduced loss of adhesion between epidermis and dermis results in blister formation and extensive erosions. There is a great need for rapidly establishing the diagnosis of these disorders since they may run a severe and potentially life-threatening course. In addition, because of their rarity and heterogeneous symptoms, autoimmune bullous skin diseases often pose a major diagnostic challenge. While histopathological examinations provide evidence for the level of blister formation, immunofluorescence microscopy has been established to identify tissue-bound and circulating autoantibodies. Direct immunofluorescence microscopy represents the gold standard for detecting tissue-bound autoantibodies. Indirect immunofluorescence microscopy with defined tissue substrates is considered the first step in detecting circulating autoantibodies. Confirmatory tests such as ELISA, immunoblot or immunoprecipitation analyses are performed utilizing recombinant proteins or keratinocyte extracts. The later assays can be used for primary diagnosis as well as for immunoserological follow-up. Systemic immunosuppressive drugs usually represent the main therapeutic regimen. Initially, systemic corticosteroids are commonly administered in combination with steroid-sparing, immunosuppressive agents. Novel targeted treatments such as immunoadsorption, rituximab or high-dose intravenous immunoglobulins have proven to be highly effective in severe and refractory pemphigus. This review presents a state-of-the-art algorithm for making the diagnosis of autoimmune bullous disorders and provides an overview on currently available therapeutic options. © The Authors • Journal compilation © Blackwell Verlag GmbH, Berlin.

  4. Bleb Point: Mimicker of Pneumothorax in Bullous Lung Disease

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    Gelabert, Christopher

    2015-05-01

    Full Text Available In patients presenting with severe dyspnea, several diagnostic challenges arise in distinguishing the diagnosis of pneumothorax versus several other pulmonary etiologies like bullous lung disease, pneumonia, interstitial lung disease, and acute respiratory distress syndrome. Distinguishing between large pulmonary bullae and pneumothorax is of the utmost importance, as the acute management is very different. While multiple imaging modalities are available, plain radiographs may be inadequate to make the diagnosis and other advanced imaging may be difficult to obtain. Ultrasound has a very high specificity for pneumothorax. We present a case where a large pulmonary bleb mimics the lung point and therefore inaccurately suggests pneumothorax. [West J Emerg Med. 2015;16(3:447–449.

  5. Bullous pemphigoid in a leg affected with hemiparesia: a possible relation of neurological diseases with bullous pemphigoid?

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    Foureur, N; Descamps, V; Lebrun-Vignes, B; Picard-Dahan, C; Grossin, M; Belaich, S; Crickx, B

    2001-01-01

    We report a typical case of bullous pemphigoid (BP) associated with a neurological disorder and study a possible link between neurological disorders and BP. An 84-year-old hemiplegic woman presented with unilateral BP on the hemiparetic side. BP was confirmed by histological and immunofluorescence data. The medical records of the previous 46 consecutive patients with BP were retrospectively analyzed (average age: 79; median age: 85). Thirty of the 46 patients with BP had neurological disorders. These disorders included dementia, epilepsy, multiple sclerosis, cerebral stroke, Parkinson's disease, gonadotropic adenoma, trembling, dyskinesia, lumbar spinal stenosis. In a control group of the 46 consecutive oldest patients (older than 71; average age: 82,5; median age: 80) with another skin disease referred during the previous two-year-period to our one-day-unit only, 13 patients had a neurological disorder. This study demonstrates that there is a high prevalence of neurological disorders in patients with BP (p = 0.0004). A prospective case control study with neurological examination and psychometrical evaluation is warranted to confirm these data. We speculate that neuroautoimmunity associated with the aging process or neurological disorders may be involved in pemphigoid development via an autoimmune response against dystonin which shares homology with bullous pemphigoid antigen 1. Bullous pemphigoid could be considered to be a marker of neurological disorder.

  6. A case of multiple myeloma presenting as a bullous dermatosis

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    Gul Ulker

    2008-01-01

    Full Text Available Multiple myeloma is a malignant plasma cell proliferative disorder that produces a monoclonal immunoglobulin protein. The skin involvement and the development of bullous disease are rarely seen features in multiple myeloma. We present a 55-year-old man with a longstanding, large, tense bullous eruption and hypertrophic scars over his body accompanied recently with weight loss and fatique. He had no response to the previous treatments, which included oral glucocorticoids and dapsone. Histologic examination of the lesions revealed subepidermal bullae, while no immunoflourescence staining was observed. In a further detailed labarotory examination, multiple myeloma was detected. After the treatment of multiple myeloma with chemotherapy, the lesions regressed. Patients with longstanding, recurrent, unusual bullous eruption should be investigated for the development of multiple myeloma.

  7. Crescentic glomerulonephritis and subepidermal blisters with autoantibodies to alpha5 and alpha6 chains of type IV collagen.

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    Ghohestani, Reza F; Rotunda, Sherry L; Hudson, Billy; Gaughan, William J; Farber, John L; Webster, Guy; Uitto, Jouni

    2003-05-01

    We describe a novel autoimmune disease characterized by severe subepidermal bullous eruption and crescentic glomerulonephritis with autoantibodies directed against the noncollagenous domain of the alpha5 and alpha6 chains of type IV collagen. Biopsy of perilesional skin revealed a subepidermal blister with marked polymorphonuclear infiltrate with linear deposits of IgA and C3. Light microscopy of a kidney biopsy specimen revealed a crescentic glomerulonephritis, and immunofluorescence microscopy showed linear basement membrane staining for IgA (3+), C3 (1+), and IgG (1+). No electron-dense deposits were observed by transmission electron microscopy. The patient's autoantibodies reacted with normal human skin and kidney: IgA (3+) and IgG (1+) antibodies stained the basement membrane zones of skin, renal glomerulus, and some tubules. The identity of the target antigen was determined by immunochemical analyses of candidate antigens using the patient's autoantibodies. The patient's IgA and IgG autoantibodies reacted with a 185- to 190-kDa antigen from a human dermal extract that was distinguished from the other dermal or epidermal antigens, including the 145- to 290-kDa (type VII collagen) epidermolysis bullosa acquisita antigen, the 165- to 200-kDa alpha3 laminin mucous membrane cicatricial pemphigoid antigen, and the 230-kDa and the 180-kDa bullous pemphigoid antigens. Patient's IgA and IgG autoantibodies further reacted with the alpha5(IV) and weakly with the alpha6(IV) chains of type IV collagen by Western blot and ELISA. This report expands the repertoire of bullous skin disorders and provides an explanation for the association of anti-type IV collagen autoantibodies and glomerulonephritis with subepidermal blisters.

  8. Childhood-onset bullous systemic lupus erythematosus.

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    Lourenço, D M R; Gomes, R Cunha; Aikawa, N E; Campos, L M A; Romiti, R; Silva, C A

    2014-11-01

    Bullous systemic lupus erythematosus has rarely been described in pediatric lupus population and the real prevalence of childhood-onset bullous systemic lupus erythematosus has not been reported. From January 1983 to November 2013, 303 childhood-onset SLE (c-SLE) patients were followed at the Pediatric Rheumatology Unit of the Childreńs Institute of Hospital das Clínicas da Faculdade de Medicina Universidade da Universidade de São Paulo, three of them (1%) diagnosed as childhood-onset bullous systemic lupus erythematosus. All three cases presented tense vesiculobullous lesions unassociated with lupus erythematosus lesions, with the median duration of 60 days (30-60). All patients fulfilled bullous systemic lupus erythematosus criteria. Two had nephritis and serositis and presented specific autoantibodies. The histological pattern demonstrated subepidermal blisters with neutrophils-predominant infiltrates within the upper dermis. Direct immunofluorescence (DIF) showed deposits of IgG and complement along the epidermal basement membrane, in the presence or absence of IgA and/or IgM. A positive indirect immunofluorescence on salt-split skin demonstrating dermal binding was observed in two cases. All of them had moderate/severe disease activity at diagnosis with median Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2K) of 18 (14-24). Two patients received dapsone and one with severe nephritis received immunosuppressive drugs. In conclusion, in the last 30 years the prevalence of bullous lupus in childhood-onset lupus population was low (1%) in our tertiary University Hospital. A diagnosis of SLE should always be considered in children with recurrent tense vesiculobullous lesions with or without systemic manifestations. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  9. Bullous lung diseases as a risk factor for lung cancer: A case report

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    Nagorni-Obradović Ljudmila

    2016-01-01

    Full Text Available Introduction. A possible association between lung cancer and bullous lung disease has been suggested and recently supported by the results of genetic studies. Case report. A previously healthy 43-year-old man, smoker, was diagnosed with bullous lung disease at the age of 31 years. He was followed up for 12 years when lung cancer (adenocarcinoma was found at the site. In the meantime, he was treated for recurrent respiratory infections. Conclusion. There is the need for active approach in following up the patients with pulmonary bulla for potential development of lung cancer.

  10. Bullous pemphigoid associated with acquired hemophilia a: a rare association of autoimmune disease.

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    Aljasser, Mohammed I; Sladden, Chris; Crawford, Richard I; Au, Sheila

    2014-01-01

    Acquired hemophilia (AH) is a rare autoimmune disease with an annual incidence of one per million and has a mortality rate of up to 22%. It is caused by the development of autoantibodies against factor VIII. Approximately half of the reported cases are associated with autoimmune disorders, pregnancy, malignancies, and adverse drug reactions. Autoimmune diseases are the most frequently associated disorders and include rheumatoid arthritis, systemic lupus erythematosus, cryoglobulinemia, pemphigus vulgaris, and bullous pemphigoid. There are a few reports of acquired hemophilia and bullous pemphigoid in the literature. We report a 73-year-old male who presented with cutaneous blistering, upper gastrointestinal bleeding, and hemoptysis. He later developed right flank pain secondary to a retroperitoneal hematoma. He had a prolonged partial thromboplastin time, a low factor VIII level, and a high factor VIII inhibitor level, all consistent with acquired hemophilia. Skin biopsies were diagnostic for bullous pemphigoid. He was treated successfully with prednisone, cyclophosphamide, rituximab, and intravenous immunoglobulin.

  11. Steroid-sparing effect of mycophenolate mofetil in the treatment of a subepidermal blistering autoimmune disease in a dog : clinical communication

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    P.J. Ginel

    2010-05-01

    Full Text Available A 7-year-old female Cocker spaniel-cross was referred with an 8-month history of mucocutaneous erosive dermatitis. On physical examination, skin lesions affected the eyelids and periocular area, lips and vulva. Lesions were symmetrical with small diffuse superficial ulcers, haemorrhagic crusts, adherent purulent exudation in haired skin, and alopecia with hyperpigmentation and scarring. Histopathologic evaluation showed multiple, non-intact dermoepidermal junction vesicles and ulceration associated with a dermal lichenoid infiltrate. Immunohistochemistry showed strong to moderate reactivity in the dermoepidermal junction for the antibodies directed against canine IgG, human IgG lambda light chains and C3, respectively. A diagnosis of autoimmune subepidermal blistering dermatosis was made. Treatment with oral prednisone at 2 mg/kg and mycophenolate mofetil (MMF at 20 mg/kg twice daily was initiated and after 4 weeks the ulcers and erosions were cured. During the rest of treatment, MMF was maintained at 10 mg/kg twice daily and prednisone could be tapered to 0.25 mg/kg once every other day without recurrences. In conclusion, this case report shows that MMF was well tolerated and might be effective as steroid-sparing agent in the long-term treatment of this autoimmune subepidermal blistering disease.

  12. Association between bullous pemphigoid and neurologic diseases: a case-control study.

    Science.gov (United States)

    Casas-de-la-Asunción, E; Ruano-Ruiz, J; Rodríguez-Martín, A M; Vélez García-Nieto, A; Moreno-Giménez, J C

    2014-11-01

    In the past 10 years, bullous pemphigoid has been associated with other comorbidities and neurologic and psychiatric conditions in particular. Case series, small case-control studies, and large population-based studies in different Asian populations, mainland Europe, and the United Kingdom have confirmed this association. However, no data are available for the Spanish population. This was an observational, retrospective, case-control study with 1:2 matching. Fifty-four patients with bullous pemphigoid were selected. We compared the percentage of patients in each group with concurrent neurologic conditions, ischemic heart disease, diabetes, chronic obstructive pulmonary disease, and solid tumors using univariate logistic regression. An association model was constructed with conditional multiple logistic regression. The case group had a significantly higher percentage of patients with cerebrovascular accident and/or transient ischemic attack (odds ratio [OR], 3.06; 95% CI, 1.19-7.87], dementia (OR, 5.52; 95% CI, 2.19-13.93), and Parkinson disease (OR, 5; 95% CI, 1.57-15.94). A significantly higher percentage of cases had neurologic conditions (OR, 6.34; 95% CI, 2.89-13.91). Dementia and Parkinson disease were independently associated with bullous pemphigoid in the multivariate analysis. Patients with bullous pemphigoid have a higher frequency of neurologic conditions. Copyright © 2013 Elsevier España, S.L.U. and AEDV. All rights reserved.

  13. Development of a disease registry for autoimmune bullous diseases: initial analysis of the pemphigus vulgaris subset.

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    Shah, Amit Aakash; Seiffert-Sinha, Kristina; Sirois, David; Werth, Victoria P; Rengarajan, Badri; Zrnchik, William; Attwood, Kristopher; Sinha, Animesh A

    2015-01-01

    Pemphigus vulgaris (PV) is a rare, potentially life threatening, autoimmune blistering skin disease. The International Pemphigus and Pemphigoid Foundation (IPPF) has recently developed a disease registry with the aim to enhance our understanding of autoimmune bullous diseases with the long-term goal of acquiring information to improve patient care. Patients were recruited to the IPPF disease registry through direct mail, e-mail, advertisements, and articles in the IPPF-quarterly, -website, -Facebook webpage, and IPPF Peer Health Coaches to complete a 38-question survey. We present here the initial analysis of detailed clinical information collected on 393 PV patients. We report previously unrecognized gender differences in terms of lesion location, autoimmune comorbidity, and delay in diagnosis. The IPPF disease registry serves as a useful resource and guide for future clinical investigation.

  14. Autoimmune bullous disease and Hashimoto's disease complicated by acquired hemophilia A.

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    Nishiura, Nobuko; Ujimoto, Daisuke; Fujita, Jiro; Maeda, Tetsuo; Nakagawa, Yukinobu; Kashiwagi, Hirokazu; Oritani, Kenji; Tomiyama, Yoshiaki; Kanakura, Yuzuru

    2017-01-01

    A 67-year-old man was admitted with a 1-month history of spontaneous hematoma in his right back and severe anemia. He had suffered from rashes with blisters involving both legs for 10 years, which had shown worsening and extended to his entire body concurrently with the hematoma. APTT was markedly prolonged to 119 seconds, and Factor VIII:C and FVIII inhibitor levels were less than 1% and 153.1 BU/ml, respectively, confirming the diagnosis of acquired hemophilia A (AHA). Skin biopsy revealed his rashes to be caused by autoimmune bullous disease (ABD), and laboratory and physical findings showed that he also had autoimmune hypothyroidism (Hashimoto's disease). Recombinant FVIIa was effective for management of his bleeding; in addition, FVIII inhibitor reduction and FVIII:C recovery, in parallel with improvement of the skin lesions, were achieved by administering prednisolone and cyclophosphamide. To our knowledge, this is the first report of AHA associated with ABD and Hashimoto's disease.

  15. Bullous pemphigoid with prominent milium formation.

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    Tsuruta, Daisuke; Brzezinski, Piotr; Koga, Hiroshi; Ohata, Chika; Furumura, Minao; Hashimoto, Takashi

    2013-01-01

    Milia are very common superficial keratinous cysts, clinically seen as pearly white dome-shaped lesions with a diameter of 1-2 mm. Bullous pemphigoid (BP) is an autoimmune bullous disease characterized clinically by tense bullae on the extremities and trunk. The major target autoantigens of BP are BP180 and BP230. We report a 55-year-old Polish BP patient presenting prominent milium formation. Physical examination revealed multiple tense bullae on the erythemas scattered on the extremities and trunk. Histopathology revealed subepidermal blisters with infiltration of eosinophils in and around the blister. Direct immunofluorescence showed IgG and C3 depositions at basement membrane zone. Although indirect immunofluorescence of normal human skin sections was negative, indirect immunofluorescence of salt-split skin sections showed IgG reactivity with epidermal side. Immunoblotting showed that IgG antibodies in the serum reacted with recombinant protein of the BP180 NC16a domain. ELISA of BP180, but not BP230 and type VII collagen, showed positive results. Several months after oral prednisolone therapy, multiple large milia appeared on the healed BP lesions. Histopathology showed cysts with flaky keratinous inclusions in the mid-dermis. We diagnosed the patient as BP with milia. Since milia are occasionally found in BP, they are not a definite differential criterion from epidermolysis bullosa acquisita.

  16. A cross-sectional study of clinical, histopathological and direct immmunofluorescence diagnosis in autoimmune bullous diseases

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    Anchal Jindal

    2014-01-01

    Full Text Available Background: Immunobullous diseases are morphologically heterogeneous and the differentiation between various subtypes is essential for proper treatment and prognosis. Aim of our study was to analyze and correlate clinical, histopathological and immunofluorescence findings in autoimmune bullous diseases. Materials and Methods: A cross-sectional study was done over a period of two years (2010-2012 after approval of the ethics committee. Sixty patients, who met the inclusion criteria of immunobullous disease, were included in the study. Skin biopsy for histopathology and direct immunofluorescence (DIF examination was taken. DIF using salt-split technique was done in few of the cases. The final diagnosis was based on clinical, histopathology and DIF findings. Pearson′s coefficient of correlation (r was calculated. Statistical Analysis was done using Epi info version. 7.0. Results: Fifty-three cases with clinical diagnosis of autoimmune bullous diseases were evaluated. In 88.6% of cases, histopathology diagnosis was consistent with clinical diagnosis and in 75.5% of cases, DIF findings were consistent with clinical diagnosis. A positive relation was seen between clinical and DIF findings with r = 0.65 and between histopathology and DIF findings with r = 0.75. DIF positivity was seen in 100% cases of bullous pemphigoid (BP and pemphigus foliaceous and 94.7% cases of pemphigus vulgaris, which was statistically significant with p < 0.05. In DIF salt-split test, deposition was seen on roof of blister in BP whereas on floor in epidermolysis bullosa acquisita. Conclusion: Our study provides evidence-based guidance for the diagnosis and classification of various immunobullous disorders. DIF test should be done in conjunction with histopathology for definitive diagnosis and to minimize both: False-positive and false-negative results.

  17. Cannabis-induced bullous lung disease leading to pneumothorax: Case report and literature review.

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    Mishra, Rashmi; Patel, Ravi; Khaja, Misbahuddin

    2017-05-01

    Marijuana use has been increasing in the United States among college students and young adults. Marijuana use has been associated with bullous lung disease which can lead to pneumothorax. There are other recreational drugs like methylphenidate, cocaine and heroin which have been associated with pneumothorax. We present a case of a 30-year-old man with spontaneous pneumothorax associated with marijuana use. The patient had no medical conditions and presented to the emergency room with chest pain. The physical examination revealed decreased breath sound on the right side of the chest. Bed side ultrasound of chest showed stratosphere sign, absent lung sliding; consistent with right-sided pneumothorax. The patient underwent placement of a chest tube. Computed tomography chest scans performed on day two also showed bullous lung disease in the right lung. Serial x-rays of the chest showed re-expansion of the lung. Despite the beneficial effects of Marijuana there are deleterious effects which are emphasized here. This case highlights the need for further studies to establish the relationship between marijuana use and lung diseases in the absence of nicotine use.

  18. Association of Autoantibodies to BP180 with Disease Activity in Greek Patients with Bullous Pemphigoid

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    Aikaterini Patsatsi

    2012-01-01

    Full Text Available 39 bullous pemphigoid (BP patients were studied to assess the clinical significance of anti-BP180 and anti-BP230 circulating autoantibodies of BP and correlate their titers with the clinical scores of the BP Disease Area Index (BPDAI and the Autoimmune Bullous Skin Disorder Intensity Score (ABSIS as well as with the intensity of pruritus measured by the BPDAI pruritus component. All parameters were evaluated by the time of diagnosis (baseline, month 3, and month 6. Titers of anti-BP180 autoantibodies were strongly correlated with BPDAI (, and ABSIS (, values, as well as with BPDAI component for the intensity of pruritus (, at baseline. At month 3, titers of anti-BP180 autoantibodies were strongly correlated with BPDAI (, and ABSIS (, values, as well as with the BPDAI component for the intensity of pruritus (, . At month 6, titers of anti-BP180 autoantibodies were strongly correlated with BPDAI (, and ABSIS (, values, as well as with the BPDAI component for the intensity of pruritus (, . There was no statistically significant correlation between titers of anti-BP230 autoantibodies and the BPDAI, ABSIS, and BPDAI component for the intensity of pruritus at the same time points.

  19. Bullous Pemphigoid Induced by Vildagliptin

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    Bengür Taşkıran Bahattin

    2016-12-01

    Full Text Available Bullous pemphigoid (BP is an uncommon chronic, autoimmune, and subepidermal disease. Tense blisters occur on normal or erythematous skin. It can be induced by medications. There is a number of reports on BP induced by dipeptidyl peptidase 4 (DPP-4 inhibitors (vildagliptin, sitagliptin, saxagliptin. DPP-4 (CD26, present as a cell surface molecule on immune cells, also plays an important costimulatory role in immune activation. BP more commonly affects elderly men. We present a case of BP induced by vildagliptin. A 59-year-old male patient who was diagnosed with type 2 diabetes mellitus had initial hemoglobin A1c level of 12.90%. Initial therapy with premix biphasic aspart insulin bid was switched to metformin and vildagliptin 50/1000 mg combo pill bid after A1c level dropped to 5.7% at 9 months of insulin therapy, Five months after vildagliptin was started, tense vesicles 8-10 in number with an erythematous base developed on the forearms and cruris. Histological examination of the lesions confirmed the diagnosis of BP. Oral antidiabetics were discontinued. He was followed up with diet alone. The lesions regressed spontaneously after cessation of antidiabetics and clobetasol propionate cream bid treatment. A1c was 5.7% 5 months after discontinuation of vildagliptin and metformin. In the literature, it has been reported that onset of BP lesions took 10 days to 2 years. Mostly the patients were on combo therapy with metformin. The lesions improved dramatically after cessation of DPP-4 inhibitors avoiding necessity for systemic treatment for BP. This is the first case of BP induced by DPP-4 inhibitors in Turkey.

  20. Bullous Dermatosis in an End-Stage Renal Disease Patient: A Case Report and Literature Review

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    Zeenat Yousuf Bhat

    2016-01-01

    Full Text Available Patients with advanced chronic kidney disease including ESRD patients may present with a wide spectrum of cutaneous abnormalities, ranging from xerosis to hyperpigmentation to severe deforming necrotizing lesions. Skin problems are not uncommon in this population of patients, with a clinical presentation that can be quite bizarre, mandating a long list of differential diagnostic possibilities, and subsequent rise of a puzzling diagnostic challenge. We describe an ESRD patient who presented with blistering, nonhealing ulcerative lesions with a diagnostic skin biopsy revealing a mixed pattern of linear IgA bullous dermatosis and dermatitis herpetiformis. A clinical remission could be achieved with pulse intravenous steroids followed by oral maintenance in combination with dapsone, with no evidence of recurrence.

  1. Treatment of Intraepidermal Autoimmune Bullous Diseases Sürekli Eğitim

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    Tamer İrfan Kaya

    2011-06-01

    Full Text Available Pemfigus is an autoimmune bullous skin disease, characterized by intraepidermal blisters. It is a severe and potentially life-threatening chronic disease with blisters and erosions on the mucosae and the skin. Treatment options do not differ for two most common types of pemphigus, pemphigus vulgaris and pemphigus foliaceus, except that the latter is usually less resistant to treatment and corticosteroids can often be started at lower doses. Systemic corticosteroids are still the most widely used drugs in the treatment of pemphigus and continue to be the mainstay of therapy for this disease. Adjuvant drugs are commonly used in combination with the aims of increasing efficacy and of having a steroid-sparing action, thereby allowing reduced corticosteroid side-effects. Mortality and complete remission rates have improved since the introduction of adjuvant drugs to pemphigus. Adjuvant drugs include immunoadsorbtion, corticosteroid pulse therapy, intravenous immunoglobulin (IVIG, immunosuppressive agents such as azathioprine, cyclophosphamide, mycophenolate mofetil and and anti-CD20 monoclonal antibody (rituximab. The lack of consensus in the published literature about the treatment of this disorder is responsible for different treatment strategies. Treatments need to be chosen after careful consideration of the potential benefits and side effects according to the patients’ medical condition. Here, both conventional therapies and novel treatment regimens for pemphigus are discussed. (Turkderm 2011; 45 Suppl 1: 44-53

  2. Bullous Mastocytosis Mimicking Congenital Epidermolysis Bullosa

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    Julio Cesar Salas-Alanis

    2014-05-01

    Full Text Available A 2-month-old female infant was referred to DebRA Mexico from the Regional Children's Hospital because of a generalized dermatosis from birth characterized by multiple blisters and erosions on the trunk, face and limbs, associated with minor trauma. A skin biopsy showing subepidermal blisters associated with a dermal infiltrate of Giemsa-positive cells and CD117-positive antibody was consistent with the diagnosis of bullous mastocytosis. Treatment with oral antihistamines, topical steroids, and antibiotics was initiated, leading to a remission of the lesions.

  3. Prothrombotic state and impaired fibrinolysis in bullous pemphigoid, the most frequent autoimmune blistering disease.

    Science.gov (United States)

    Marzano, A V; Tedeschi, A; Polloni, I; Crosti, C; Cugno, M

    2013-01-01

    Bullous pemphigoid (BP) is a potentially life-threatening autoimmune blistering disease that is burdened with an increased risk of cardiovascular events. In BP, there is an interplay between inflammation and coagulation both locally, which contributes to skin damage, and systemically, which leads to a prothrombotic state. Fibrinolysis is an important defence mechanism against thrombosis, but has only been studied locally in BP and no systemic data are available. The aim of this observational study was to evaluate systemic fibrinolysis and coagulation activation in patients with BP. We measured parameters of fibrinolysis and coagulation by immunoenzymatic methods in plasma from 20 patients with BP in an active phase and during remission after corticosteroid treatment. The controls were 20 age- and sex-matched healthy subjects. Plasma levels of plasminogen activator inhibitor type 1 (PAI-1) antigen, PAI-1 activity and tissue plasminogen activator (t-PA) antigen were significantly higher in the BP patients with active disease than in healthy controls (P = 0·0001 for all), as were the plasma levels of the fibrin fragment d-dimer and prothrombin fragment F1+2 (P = 0·0001 for both). During remission after treatment, levels of PAI-1 antigen and PAI-1 activity decreased significantly (P = 0·008 and P = 0·006, respectively), and there was also a significant decrease in plasma levels of d-dimer (P = 0·0001) and F1+2 (P = 0·0001). Fibrinolysis is inhibited in patients with active BP, due mainly to an increase in plasma levels of PAI-1. Corticosteroids not only induce the regression of BP lesions, but also reduce the inhibition of fibrinolysis, which may contribute to decreasing thrombotic risk. © 2012 British Society for Immunology.

  4. Pemphigus disease activity measurements: pemphigus disease area index, autoimmune bullous skin disorder intensity score, and pemphigus vulgaris activity score.

    Science.gov (United States)

    Rahbar, Ziba; Daneshpazhooh, Maryam; Mirshams-Shahshahani, Mostafa; Esmaili, Nafiseh; Heidari, Kazem; Aghazadeh, Nessa; Hejazi, Pardis; Ghajarzadeh, Mahsa; Chams-Davatchi, Cheyda

    2014-03-01

    Recently, the clinical pemphigus disease activity indexes of Pemphigus Disease Area Index (PDAI), Autoimmune Bullous Skin Disorder Intensity Score (ABSIS), and Pemphigus Vulgaris Activity Score (PVAS) were validated to correlate with physician global assessment. The antidesmoglein (anti-Dsg) autoantibodies are known to correlate mostly with pemphigus disease activity. The correlation between these indexes and anti-Dsg1 and anti-Dsg3 enzyme-linked immunosorbent assay values has not been previously evaluated. To evaluate the PDAI, ABSIS, and PVAS in a large number of patients with pemphigus vulgaris and to compare the interrater reliability of these indexes and the convergent validity according to anti-Dsg values. A cross-sectional study was performed in 2012 in a referral university center for autoimmune bullous diseases. One hundred patients with confirmed diagnoses of pemphigus vulgaris and clinical pemphigus lesions (mean [SD] age, 43.3 [1.7] years; age range, 14-77 years; female-male ratio, 1:3) were studied. Three dermatologists familiar with immunobullous diseases and the indexes rated the patients. All 100 patients were evaluated with the PDAI, ABSIS, and PVAS. Three dermatologists independently rated all 3 indexes for each of the patients on the same day. Serum anti-Dsg1 and anti-Dsg3 enzyme-linked immunosorbent assay values were measured simultaneously. Analyses of interrater reliabilities, convergent validities according to anti-Dsg titers, correlation between the distribution and types of lesions with disease activity, predictors of higher titers of antibody (multiple regression analysis), and cutoff values of measures for 2 titers of anti-Dsg with optimal area under the curve, sensitivity, and specificity were performed. The interrater reliabilities were highest for the PDAI, followed by the ABSIS and the PVAS (intraclass correlation coefficients of 0.98 [95% CI, 0.97-0.98], 0.97 [95% CI, 0.96-0.98], and 0.93 [95% CI, 0.90-0.95], respectively). The

  5. Dermatoses bolhosas auto-imunes Autoimmune bullous dermatoses

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    Paulo R. Cunha

    2009-04-01

    Full Text Available Dermatoses bolhosas autoimunes são doenças cuja manifestação cutânea primária e fundamental consiste em vesículas e bolhas. Classificam-se conforme a localização da bolha, em intraepidérmica e subepidérmica. Os pacientes produzem autoanticorpos contra estruturas específicas da pele detectáveis por técnicas de imunofluorescência, immunobloting e Elisa. Os recentes avanços da biologia molecular e celular têm permitido conhecer esses autoantígenos, contra os quais os pacientes se sensibilizam e que estão localizados na epiderme ou na junção dermoepidérmica. São doenças de baixa incidência, porém de elevada morbidade e por vezes letais. O objetivo deste trabalho é revisar e descrever os progressos nos conhecimentos de quatro doenças vésico-bolhosas autoimunes: pênfigo foliáceo endêmico (fogo selvagem, pênfigo vulgar, penfigóide bolhoso e dermatite herpetiforme.Autoimmune bullous dermatoses are diseases in which blisters and vesicles are the primary and fundamental types of skin lesion. Their classification is based on the location of the blister: intraepidermal and subepidermal. Patients produce autoantibodies against self-specific structures of the skin detectable by immunofluorescence techniques, immunoblotting and ELISA. Recent advances in molecular and cellular biology have brought to knowledge these self-antigens, against which patients are sensitized, and which are found in epidermis or in the dermo-epidermal junction. These are low incidence, but high morbidity diseases that may be fatal. The aim of this article is to review and describe the progress of four autoimmune vesiculobullous disorders: endemic pemphigus foliaceous (wild fire, pemphigus vulgaris, bullous pemphigoid and dermatitis herpetiformis.

  6. Linear IgA Bullous Dermatosis

    DEFF Research Database (Denmark)

    Lings, Kristina; Bygum, Anette

    2015-01-01

    Linear IgA bullous dermatosis (LAD) is an autoimmune, chronic bullous disease affecting primarily young children and adults. Studies on LAD are relatively sparse and from Scandinavia we could only find a few case reports. Therefore we decided to conduct a retrospective investigation of patients...

  7. Aberrant expression and secretion of heat shock protein 90 in patients with bullous pemphigoid.

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    Stefan Tukaj

    Full Text Available The cell stress chaperone heat shock protein 90 (Hsp90 has been implicated in inflammatory responses and its inhibition has proven successful in different mouse models of autoimmune diseases, including epidermolysis bullosa acquisita. Here, we investigated expression levels and secretory responses of Hsp90 in patients with bullous pemphigoid (BP, the most common subepidermal autoimmune blistering skin disease. In comparison to healthy controls, the following observations were made: (i Hsp90 was highly expressed in the skin of BP patients, whereas its serum levels were decreased and inversely associated with IgG autoantibody levels against the NC16A immunodominant region of the BP180 autoantigen, (ii in contrast, neither aberrant levels of circulating Hsp90 nor any correlation of this protein with serum autoantibodies was found in a control cohort of autoimmune bullous disease patients with pemphigus vulgaris, (iii Hsp90 was highly expressed in and restrictedly released from peripheral blood mononuclear cells of BP patients, and (iv Hsp90 was potently induced in and restrictedly secreted from human keratinocyte (HaCaT cells by BP serum and isolated anti-BP180 NC16A IgG autoantibodies, respectively. Our results reveal an upregulated Hsp90 expression at the site of inflammation and an autoantibody-mediated dysregulation of the intracellular and extracellular distribution of this chaperone in BP patients. These findings suggest that Hsp90 may play a pathophysiological role and represent a novel potential treatment target in BP.

  8. Successful Management of Acquired Hemophilia A Associated with Bullous Pemphigoid: A Case Report and Review of the Literature

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    Quentin Binet

    2017-01-01

    Full Text Available Background. Acquired hemophilia A (AHA is a rare condition, due to the spontaneous formation of neutralizing antibodies against endogenous factor VIII. About half the cases are associated with pregnancy, postpartum, autoimmune diseases, malignancies, or adverse drug reactions. Symptoms include severe and unexpected bleeding that may prove life-threatening. Case Study. We report a case of AHA associated with bullous pemphigoid (BP, a chronic, autoimmune, subepidermal, blistering skin disease. To our knowledge, this is the 25th documented case of such an association. Following treatment for less than 3 months consisting of methylprednisolone at decreasing dose levels along with four courses of rituximab (monoclonal antibody directed against the CD20 protein, AHA was completely cured and BP well-controlled. Conclusions. This report illustrates a rare association of AHA and BP, supporting the possibility of eradicating the inhibitor with a well-conducted short-term treatment.

  9. A Rare Case of Vancomycin-Induced Linear Immunoglobulin A Bullous Dermatosis

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    Pinky Jha

    2017-01-01

    Full Text Available Linear IgA bullous dermatosis (LABD is an autoimmune vesiculobullous disease, which is typically idiopathic but can also rarely be caused by medications or infections. Vancomycin is the most common drug associated with LABD. Lesions typically appear 24 hours to 15 days after the first dose of vancomycin. It is best characterized pathologically by subepidermal bulla (blister formation with linear IgA deposition at the dermoepidermal junction. Here we report an 86-year-old male with a history of left knee osteoarthritis who underwent a left knee arthroplasty and subsequently developed a prosthetic joint infection. This infection was treated with intravenous vancomycin as well as placement of a vancomycin impregnated joint spacer. Five days following initiation of antibiotic therapy, he presented with a vesiculobullous eruption on an erythematous base over his trunk, extremities, and oral mucosa. The eruption resolved completely when intravenous vancomycin was discontinued and colchicine treatment was begun. Curiously, complete resolution occurred despite the presence of the vancomycin containing joint spacer. The diagnosis of vancomycin-induced linear IgA bullous dermatosis was made based on characteristic clinical and histopathologic presentations.

  10. Pseudophakic bullous keratopathy.

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    Taylor, D M; Atlas, B F; Romanchuk, K G; Stern, A L

    1983-01-01

    Pseudophakic bullous keratopathy (PBK) is a relatively new disease that is rapidly becoming the prime indication for penetrating keratoplasty. From 1977 thru 1981 we performed 81 corneal transplants on 66 eyes for this condition. In our experience, the incidence of PBK, with iris-supported lenses, is five times greater than aphakic bullous keratopathy (ABK). A series of 800 intracapsular cataract extractions (ICCE) with implantation of iris-supported lenses (1975-1979) were reviewed. Thirty-four patients (4.3%) developed PBK (average two years after surgery). In a series of 3,000 simple ICCEs (1955-1980), 24 patients (0.8%) developed ABK. Etiologic factors, methods of prevention, and the results of penetrating keratoplasty are considered. PBK following ICCE is a serious disease entity, usually of multifactorial origin. Though 88% of the patients have clear grafts, a high incidence of associated posterior segment disease tends to nullify the visual result. Planned extracapsular cataract extraction and posterior chamber lens insertion (1979-1982) has reduced our incidence of PBK to 0.3% (1/300). These results are promising but premature.

  11. Herpes Simplex Virus Infection Mimicking Bullous Disease in an Immunocompromised Patient

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    Anne L.Y. Lecluse

    2010-06-01

    Full Text Available Immunodeficient patients are at risk of developing extended or atypical herpes simplex virus infections, which can be easily misdiagnosed. We present the case of a 79-year-old, treatment-induced (oral corticosteroid, immunocompromised female with an extensive atypical herpes simplex virus infection. This patient presented with multiple erosions and vesicles on the trunk with a subacute onset. The clinical differential diagnosis was herpes simplex infection, herpes zoster infection, pemphigus vulgaris or bullous pemphigoid. Due to the atypical clinical presentation and negative Tzanck test, suspicion of viral infection was low. High-dose steroid treatment was initiated. Subsequent histopathology, however, showed a herpes simplex virus infection. After discontinuing steroid treatment and initiating antiviral treatment, the patient recovered within a week. Emphasis must be placed on the importance of clinical awareness of extended and clinically atypical herpes simplex infections in immunocompromised patients. A negative Tzanck test does not rule out the possibility of a herpes infection.

  12. Association of bullous pemphigoid with malignancy: A myth or reality?

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    Joycelin Fernandes

    2014-01-01

    Full Text Available Bullous pemphigoid (BP is an autoimmune sub-epidermal blistering disorder of the skin. The association of BP with internal malignancy has always been a matter of debate with no consensus reached despite many published case reports and clinical trials. However, we report a hitherto unreported association of BP with squamous cell carcinoma of the tongue, wherein the patient had a recalcitrant downhill course despite adequate treatment measures with control of skin lesions being achieved only following excision of the tumor, and relapse coinciding with detection of metastasis. Hence, given the clinical behavior, it is reasonable to speculate that the association of malignancy was more than co-incidental.

  13. Linear IgA Bullous Dermatosis

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    Lings, Kristina; Bygum, Anette

    2015-01-01

    Linear IgA bullous dermatosis (LAD) is an autoimmune, chronic bullous disease affecting primarily young children and adults. Studies on LAD are relatively sparse and from Scandinavia we could only find a few case reports. Therefore we decided to conduct a retrospective investigation of patients s...... is a rare but characteristic condition which in most cases can be effectively treated with dapsone or sulphapyridine....

  14. A CONTROVERSIAL ON THE DIAGNOSIS OF CHRONIC BULLOUS TYPE MUCOCUTANEOUS DISEASE INVOLVING ORAL MUCOSA (A CASE REPORT

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    Isadora Gracia

    2006-04-01

    Full Text Available A case of chronic bullous type mucocutaneous disease involving oral mucosa was reported from a 56 years old man with never healing oral ulcers and wound on the perianal skin for three years. There were also red and black spots on the limb and back skin and a lesion on nail. Painful oral lesion consisted of mucous erosion, desquamative gingivitis, and sloughing area on palate and tongue. The patient is diabetic. The first perianal skin diagnosis was granulomatous candidasis with differential diagnosis pemphigus vegetates and acuminarum condiloma. However the histopathologic examination did not support these diagnosis. After several histopathologic examinations, the latest perianal skin diagnosis was lichen planus with differential diagnosis granulomatous vasculitis, bowenoid papulosis and pyodema gangrenosum. Other skin diagnosis was erythema multiforme. Oral diagnosis was mucous membrane pemphigoid with differential diagnosis lichen planus, Behçet's syndrome and erythema multiforme. Oral histopathologic examinations showed a sub-epithelial blister, which supported mucous membrane pemphigoid. A lip balm, prednisone 5 mg oral rinse and multivitamins were given but oral improvement started after blood sugar level was controlled. Conclusion: It is not yet known whether skin and oral mucous lesions are from the same disease or not.

  15. Diffuse Bullous Eruptions in an Elderly Woman: Late-Onset Bullous Systemic Lupus Erythematosus

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    Prajwal Boddu

    2016-10-01

    Full Text Available Vesiculobullous eruptions in the elderly represent a diverse range of varying pathophysiologies and can present a significant clinical dilemma to the diagnostician. Diagnosis requires a careful review of clinical history, attention to detail on physical and histomorphological examination, and appropriate immunofluorescence testing. We describe the case of a 73-year-old female who presented to our hospital with a painful blistering skin rash developed over 2 days. Examination of the skin was remarkable for numerous flaccid hemorrhagic bullae on a normal-appearing nonerythematous skin involving both the upper and lower extremities. Histopathology of the biopsy lesion showed interface change at the epidermo-dermal region with subepidermal blister formation, mild dermal fibrosis, and sparse interstitial neutrophilic infiltrate. Immunohistological analysis was significant for positive IgG basement membrane zone antibodies with a dermal pattern of localization on direct immunofluorescence and positive IgG antinuclear antibodies on indirect immunofluorescence. Evidence of antibodies to type VII collagen suggested the diagnosis of epidermolysis bullosa acquisita versus bullous systemic lupus erythematosus (BSLE. A diagnosis of BSLE was made based on positive American College of Rheumatology criteria, acquired vesiculo-bullous eruptions with compatible histopathological and immunofluorescence findings. This case illustrates one of many difficulties a physician encounters while arriving at a diagnosis from a myriad of immunobullous dermatoses. Also, it is important for internists and dermatologists alike to be aware of and differentiate this uncommon and nonspecific cutaneous SLE manifestation from a myriad of disorders presenting with vesiculobullous skin eruptions in the elderly.

  16. Non-infectious ulcerating oral mucous membrane diseases.

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    Altenburg, Andreas; Krahl, Dieter; Zouboulis, Christos C

    2009-03-01

    Non-infectious ulcerative oral mucous membrane diseases are difficult to separate at first glance: they can appear as aphthous, bullous, lichenoid, drug-induced or toxic-irritative reactions. The overall considerations of history, localization of lesions, clinical and histological features, as well as direct and indirect immunofluorescence examination are required for the correct diagnosis. Some disorders start preferably at the oral mucosa, like pemphigus vulgaris and Adamantiades-Behçet disease, while others, such as cicatricial pemphigoid and habitual aphthosis generally are confined to the mucous membranes. This overview summarizes clinical and diagnostic features, differential diagnoses and current therapeutic possibilities of non-infectious inflammatory stomatopathies, which possess a specific position among skin diseases in distinction to infectious or neoplastic oral ulcers. This group of diseases includes aphthous lesions, lichen planus mucosae, lupus erythematosus, disorders with intraepidermal or subepidermal formation of blisters including pemphigus, bullous pemphigoid, erythema multiforme and variants as well as allergic or toxic contact stomatitis.

  17. Bullous pemphigoid with prominent milium formation

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    Tsuruta, Daisuke; Brzezinski, Piotr; Koga, Hiroshi; Ohata, Chika; Furumura, Minao; Hashimoto, Takashi

    2013-01-01

    Milia are very common superficial keratinous cysts, and are clinically pearly white dome-shaped lesions with diameter of 1-2 mm.  Bullous pemphigoid (BP) is an autoimmune bullous disease, characterized clinically by tense bullae on the extremities and trunk.  The major target autoantigens of BP are BP180 and BP230.  We report a 55-year-old Polish BP patient presented prominent milium formation.  The physical examination revealed multiple tense bullae on the erythemas scattered on the extremit...

  18. Bullous pemphigoid in infant post vaccination: Myth or reality?

    Science.gov (United States)

    Neri, Iria; Greco, Antonella; Bassi, Andrea; Orgaz-Molina, Jacinto; Balestri, Riccardo; Oranges, Teresa; Patrizi, Annalisa; de Martino, Maurizio

    2016-06-01

    Bullous pemphigoid is rare in children and even rarer in infants. By presenting two cases of bullous pemphigoid related by their temporal proximity with a previous episode of vaccination, it will be carefully discussed if a relationship is or is not possible. Our final conclusion is that the association is mostly a myth rather than a reality and bullous pemphigoid is not a contraindication to continue with the normal vaccination schedule of infants. It is important to know about this clinical entity in order to perform adequate treatment that avoids any worsening or future relapse of this disease. © The Author(s) 2015.

  19. Bullous Lupus Erythematosus Manifesting As Erythema Multiforme

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    Dhurat Rachita

    2004-01-01

    Full Text Available Bullous SLE has a distinctive clinical, histopathologic and immunopathologic features that together constitute a unique bullous disease phenotype. We report a 33 year old female presenting with multiple tense vesicles and bullae on normal and erythematous skin over the body and oral erosions. Palms and extremities showed typical target lesions. She had consumed NSAIDs intermittently for joint pains. She was diagnosed as bullous erythema multiforme and started on oral prednisolone but lesions failed to heal. Patient recollected a history of low grade fever and a photosensitive rash in the past. Investigations revealed positive ANA with a peripheral pattern. A skin biopsy of a vesicle showed a subepidemal blisher. Perilesional direct immunofluorescence studies showed a linear deposition of IgG, IgA and fibrin along the basement membrane zone and perivascular deposition of IgG. Lapus band test showed a linear deposition of IgG, C3, IgM and fibrin at BMZ clinching the diagnosis of bullous lupus erythematosus.

  20. Passive transfer of collagen XVII-specific antibodies induces sustained blistering disease in adult mice

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    Chiriac Mircea Teodor

    2013-01-01

    Full Text Available Abstract Background Bullous pemphigoid is a subepidermal blistering disorder associated with tissue-bound and circulating autoantibodies directed mainly to the hemidesmosomal component collagen XVII. While recapitulating the main immunopathological features of the human disease, frank skin blistering does not develop in the absence of skin rubbing in experimental pemphigoid models that have been established in neonatal mice. Moreover, due to their experimental design they only allow for short-term disease observation. In the present study we aimed to establish a model that reproduces the frank skin blistering seen in patients and allows for longer observation times. Methods Rabbit and sheep antibodies specific to several fragments of collagen XVII were generated and the purified antibodies were passively transferred into adult mice. Results Collagen XVII-specific IgG bound to the basal membrane of the skin and mucous membranes activating murine complement in vivo. Mice injected with collagen XVII-specific antibodies, in contrast to mice receiving control antibodies, developed frank skin blistering disease, reproducing human bullous pemphigoid at the clinical, histological and immunopathological levels. Titres of circulating IgG in the serum of mice correlated with the extent of the clinical disease. Mice receiving sheep antibodies specific to murine collagen XVII showed an early onset and a more active disease when compared to litter mates receiving specific rabbit antibodies. Conclusion This novel animal model for bullous pemphigoid should facilitate further investigations of the pathogenesis of bullous pemphigoid and the development of innovative therapies for this disease.

  1. Origin of the subepidermal tissue in Piper L. leaves.

    Science.gov (United States)

    Nakamura, A T; Simão, E; Silva, L; Torres, G A

    2015-05-01

    Studies on the anatomy of Piper leaves demonstrate the presence of a subepidermal tissue distinct from the adjacent epidermis, which cells show thin walls and hyaline contents. Some authors consider such cells a hypodermal tissue, while others refer to them as components of a multiple epidermis. In this study, the nature of this subepidermal tissue was investigated through the analysis of leaf ontogeny in three Piper species. The analysis showed that the referred tissue originates from the ground meristem and, thus, should be considered a hypodermis. The studied species suggests that the role of the hypodermis would be to protect the photosynthetic apparatus from excess light, regulating the intensity of light reaching the chlorophyll parenchyma.

  2. Imunoglobulina intravenosa para tratamento de epidermólise bolhosa adquirida grave refratária a terapia imunossupressora convencional Intravenous immunoglobulin for treatment of severe acquired bullous epidermolysis refractory to conventional immunosuppressive therapy

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    Carolina Balbi Mosqueira

    2010-08-01

    Full Text Available A epidermólise bolhosa adquirida é doença bolhosa subepidérmica crônica e rara. Geralmente, inicia-se na fase adulta, sendo a etiologia desconhecida, embora vinculada à presença de anticorpos contra o colágeno tipo VII. Há formação de bolhas, espontaneamente ou após trauma, podendo causar complicações graves. O tratamento é desapontador e difícil. Além da terapia convencional com corticoides sistêmicos, recentemente, novas modalidades terapêuticas promissoras estão sendo utilizadas, dentre elas, a imunoglobulina intravenosa. Destaca-se, neste relato, o difícil manejo clínico desta doença, e a melhora importante com a imunoglobulina intravenosa.Acquired bullous epidermolysis is a chronic and rare bullous subepidermal disease. It usually begins in adulthood and its etiology is unknown although it is associated with antibodies against type VII collagen. There are spontaneous and trauma induced formation of blisters that may cause serious complications. Treatment is disappointing and difficult. Apart from conventional therapy with systemic corticosteroid, new therapeutic modalities such as intravenous immunoglobulin are currently being used. This report highlights the extremely difficult clinical management of this rare disease and the important improvement provided by intravenous immunoglobulin.

  3. A COMPREHENSIVE STUDY OF BULLOUS KERATOPATHY

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    Pramila Balasubramaniam

    2016-10-01

    Full Text Available BACKGROUND Bullous Keratopathy is emerging major cause of treatable blindness nowadays in the era of modern ophthalmology. It represents the terminal stage of severe epithelial oedema occurring usually in diseased eyes. This study has been conducted to enlighten the various aetiological factors, its management both medical and surgical modalities in Government setup. In most cases, aetiology was found to be surgical trauma following cataract surgery with posterior chamber intraocular lens implantation. MATERIALS AND METHODS 98 patients (100 eyes who attended the outpatient and inpatient Department of Ophthalmology at Government Vellore Medical College who are diagnosed clinically to have Bullous Keratopathy were enrolled for this study after getting their consent. Detailed history taking, detailed general examination to detect any systemic disease like Diabetes/Hypertension were undertaken. Complete ocular examination, fundus examination was done if it was possible. The IOP was measured. Corneal thickness was measured by Haag-Streit pachymeter. 2% fluorescein staining was carried out to determine the status of corneal epithelium. Relevant laboratory investigations were also done. This is a hospital-based study. The period of our study was from June 2015-June 2016. Ethical committee approval was obtained for conducting the study. RESULTS Bullous Keratopathy is a common clinical condition, which occurs in elderly age group, commonly occurring in sixth decade followed by increased incidence in fifth decade well correlated with the age incidence of senile cataract. Study comprised of equal male and female patients of ratio 48:50. Left eye involved in 51.1% cases as more ocular surgeries were done in left eye. About 75% of the cases, the aetiology was due to postsurgical complication. 76 patients, out of 98 cases of Bullous Keratopathy were reported within 1 to 3 years of postoperative period. Most common postsurgical cause was following

  4. Three-year observation of the patients with bullous pemphigoid: 29 cases

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    Özlem Ekiz

    2013-12-01

    Full Text Available Background and Design: Bullous pemphigoid (BP is a chronic, autoimmune, subepidermal blistering disease. The aim of this study was to determine the clinico-epidemiologic data’s of patients diagnosed as BP in our clinic and compare these data with other studies in our country and in the world. Material and Method: We researched the documents of BP cases diagnosed by clinical and histopathological examinations from January 2009 to January 2013, retrospectively. We evaluated clinical and dermographical characteristics of all patients such as age, sex, existence of oral mucosal lesions, association of pruritus, duration of disease, presence of triggering factors, features of skin lesions, results of direct immunofluorescence (DIF investigation, drug intake, recurrence and mortality rates and causes of detected mortality. Results: Of the 29 patients included in the study %48,3 were female, %51,7 were male. The average age was 70,17 and the mean duration of disease was 15.41 months. In five cases oral mucosal involvement and in 24 cases pruritus was detected. Drugs in three cases and malignity in one case were assessed as triggering factors. The results of DIF investigation revealed the linear IgG and C3 deposition at the dermoepidermal junction in 12 cases, C3 deposition in 10 cases. The initial treatment was topical corticosteroid in 11, tetracycline and nicotinamide combination in six, systemic corticosteroid in 10 individuals. After initial therapy recurrence appeared in 7 patients in one year. Mortality during hospitalization was observed in 2 cases. Conclusions: We presented the clinical and epidemiological features of patients diagnosed as BP in our clinics in the last three years. Because of having different ethnical originated, heterogeneous population of our city, we believe that our investigation will contribute to having opinion about epidemiology of BP in our country. Nevertheless, prospective, long term and multicentre studies based on

  5. Prospective studies on the routine use of a novel multivariant enzyme-linked immunosorbent assay for the diagnosis of autoimmune bullous diseases.

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    van Beek, Nina; Dähnrich, Cornelia; Johannsen, Nora; Lemcke, Susanne; Goletz, Stephanie; Hübner, Franziska; Di Zenzo, Giovanni; Dmochowski, Marian; Drenovska, Kossara; Geller, Shamir; Horn, Michael; Kowalewski, Cezary; Medenica, Ljiljana; Murrell, Dedee F; Patsatsi, Aikaterini; Uzun, Soner; Vassileva, Snejina; Zillikens, Detlef; Schlumberger, Wolfgang; Schmidt, Enno

    2017-05-01

    Serologic diagnosis of autoimmune blistering disease (AIBD) usually follows a sophisticated multistep algorithm. We sought validation of a multivariant enzyme-linked immunosorbent assay (ELISA) in the routine diagnosis of AIBD. The multivariant ELISA comprising 6 recombinant immunodominant forms of major AIBD target antigens, ie, desmoglein 1, desmoglein 3, envoplakin, BP180, BP230, and type VII collagen was applied in: (1) a cohort of well-characterized AIBD (n = 173) and control sera (n = 130), (2) a prospective multicenter study with 204 sera from patients with newly diagnosed AIBD with positive direct immunofluorescence microscopy, and (3) a prospective monocenter study with 292 consecutive sera from patients with clinical suspicion of AIBD in comparison with the conventional multistep diagnostic algorithm. Concordant results in the multivariant ELISA compared with direct immunofluorescence microscopy were seen in 94% of patients with pemphigus and 71% of patients with pemphigoid (Cohen κ value, 0.95 and 0.66) and with the conventional multistep diagnostic approach in 91% of patients with pemphigus and 88% of patients with bullous pemphigoid and 93% of autoantibody-negative sera (Cohen κ, 0.95, 0.84, and 0.78). IgA autoantibodies and less common target antigens were not analyzed. The multivariant ELISA is a practical, highly standardized, and widely available novel diagnostic tool for the routine diagnosis of AIBD. Copyright © 2016 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  6. Features of oral, pharyngeal, and laryngeal lesions in bullous pemphigoid.

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    Ohki, Masafumi; Kikuchi, Shigeru; Ohata, Atsushi; Baba, Yuka; Ishikawa, Junichi; Sugimoto, Hirohito

    2016-01-01

    Bullous pemphigoid is an autoimmune bullous disease characterized by skin lesions, with or without oral lesions. The occurrence of pharyngolaryngeal lesions is very rare in affected patients. We conducted a study to investigate the characteristics of oral and pharyngolaryngeal lesions in bullous pemphigoid. Our study population was made up of 6 consecutively presenting outpatients-2 men and 4 women, aged 40 to 83 years (mean: 68.2)-who had been referred to our department over an 11-year period. Presenting symptoms included sore throat in all 6 patients and oral pain in 3. The sites of mucosal lesions included the soft palate, epiglottis, gingiva, hypopharynx, tongue, nasal cavity, and buccal mucosa. These lesions appeared as erosions, erosions with white coating, erythematous patches, and/or blisters. Mucosal lesions preceded skin lesions in 2 patients, appeared after skin lesions in 1 patient, and appeared simultaneously with skin lesions in 3 patients. We conclude that bullous pemphigoid sometimes involves the mucosa, such as that of the laryngopharynx and the oral cavity, and it can manifest as skin lesions. In the differential diagnosis of refractory pharyngolaryngeal lesions, bullous pemphigoid should be considered.

  7. The IL-8 release from cultured human keratinocytes, mediated by antibodies to bullous pemphigoid autoantigen 180, is inhibited by dapsone

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    Schmidt, E; Reimer, S; Kruse, N; Bröcker, E-B; Zillikens, D

    2001-01-01

    Bullous pemphigoid (BP) is a subepidermal blistering disease associated with autoantibodies to the hemidesmosomal 180 kD BP autoantigen (BP180). However, the binding of autoantibodies to BP180 alone is not sufficient for blister formation in this disease and the infiltration of neutrophils into the skin is required. Dapsone and nicotinamide inhibit neutrophil chemotaxis and are used effectively in treating BP. IL-8 is a known chemoattractant for neutrophils and has been implicated in the inflammatory process of both human and experimental murine BP. We have recently shown that antibodies to BP180 mediate a dose and time-dependent release of IL-6 and IL-8 from cultured normal human epidermal keratinocytes (NHEK). In the present study, we addressed the question whether dapsone or nicotinamide influence this cytokine release. We demonstrate that dapsone, but not nicotinamide, in its pharmacological range, inhibits the IL-8, but not the IL-6 release from NHEK, induced by anti-BP180 IgG, in a dose-dependent fashion as detected by ELISA. IL-8 mRNA levels, as determined by RT-PCR, were the same in cells treated with BP IgG alone compared to cells treated with BP IgG plus dapsone. This observation suggests that dapsone inhibits the BP IgG-induced IL-8 release from cultured NHEK by mechanisms at the post-transcriptional level. Our findings contribute to the understanding how dapsone leads to a reduced influx of neutrophils into BP lesions and, finally, to the cessation of blister formation in this disease. PMID:11359455

  8. Macropinocytosis of type XVII collagen induced by bullous pemphigoid IgG is regulated via protein kinase C.

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    Iwata, Hiroaki; Kamaguchi, Mayumi; Ujiie, Hideyuki; Nishimura, Machiko; Izumi, Kentaro; Natsuga, Ken; Shinkuma, Satoru; Nishie, Wataru; Shimizu, Hiroshi

    2016-12-01

    Macropinocytosis is an endocytic pathway that is involved in the nonselective fluid uptake of extracellular fluid. Bullous pemphigoid (BP) is an autoimmune subepidermal blistering disease associated with autoantibodies to type XVII collagen (COL17), which is a component of hemidesmosome. When keratinocytes are treated with BP-IgG, COL17 internalizes into cells by way of the macropinocytosis. We investigated the mechanism of COL17 macropinocytosis using DJM-1 cells, a cutaneous squamous cell carcinoma cell line. First, non-hemidesmosomal COL17 was preferentially depleted by stimulation with the BP-IgG in the DJM-1 cells. To investigate the signaling involved in COL17-macropinocytosis, the inhibition of small GTPase family members Rac1 and Cdc42 was found to strongly repress COL17 internalization; in addition, the Rho inhibitor also partially blocked that internalization, suggesting these small GTPases are involved in signaling to mediate COL17-macropinocytosis. Western blotting using Phostag-SDS-PAGE demonstrated high levels of COL17 phosphorylation in DJM-1 cells under steady-state condition. Treatment with BP-IgG increased the intracellular calcium level within a minute, and induced the overabundant phosphorylation of COL17. The overabundant phosphorylation of COL17 was suppressed by a protein kinase C (PKC) inhibitor. In addition, PKC inhibitor repressed COL17 endocytosis using cell culture and organ culture systems. Finally, the depletion of COL17 was not observed in the HEK293 cells transfected COL17 without intracellular domain. These results suggest that COL17 internalization induced by BP-IgG may be mediated by a PKC pathway. In summary, BP-IgG initially binds to COL17 distributed on the plasma membrane, and COL17 may be internalized by means of a macropinocytic pathway related to the phosphorylation of the intracellular domain by PKC.

  9. Tetracycline and niacinamide control bullous pemphigoid but not pemphigus foliaceus when these conditions coexist.

    Science.gov (United States)

    Shiohara, Junko; Yoshida, Kanako; Hasegawa, Junichi; Uhara, Hisashi; Takata, Minoru; Saida, Toshiaki; Ohyama, Bungo; Oyama, Bungo; Hashimoto, Takashi

    2010-07-01

    Pemphigus and pemphigoid are different types of autoimmune bullous disease and can occur in the same patient. We report a female patient with this condition. At first, we diagnosed her with bullous pemphigoid, and we treated her with tetracycline, niacinamide and a topical steroid. Tense bullas disappeared shortly after that, but crusted erythemas mainly on her head and trunk persisted. We examined BP180 and desmoglein 1 enzyme-linked immunosorbent assays, and also histological features, which showed coexistence of bullous pemphigoid and pemphigus foliaceus concurrently. Therefore, we tried prednisolone, which could control both conditions. This case showed that tetracycline and niacinamide could control bullous pemphigoid, but could not control pemphigus foliaceus, and that prednisolone was effective for both conditions.

  10. Penfigóide bolhoso no lactente Bullous pemphigoid in childhood

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    Ada Lobato Quattrino

    2007-02-01

    Full Text Available O penfigóide bolhoso é doença que comumente acomete pessoas idosas. Desde o primeiro caso na infância, confirmado por imunofluorescência em 1970, cerca de 50 casos foram relatados e poucos ocorreram em crianças com menos de um ano de idade. Apresentase caso de penfigóide bolhoso em lactente de quatro meses de idade e discutem-se as características clínicas e imunopatológicas dessa rara bulose da infância.Bullous pemphigoid typically affects the elderly. Since the first description of bullous pemphigoid in childhood in 1970, about 50 cases have been reported, but only 10 were reported in children under the first year of age. We report a case of bullous pemphigoid in a 4-month-old girl and discuss the clinical and immunopathological features of this rare bullous disease of infancy.

  11. Widespread bullous fixed drug eruption.

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    Patell, Rushad D; Dosi, Rupal V; Shah, Purav C; Joshi, Harshal S

    2014-02-07

    A 53-year-old man developed a widespread erythematous eruption which rapidly evolved into fluid-filled bulla mostly involving the distal areas of all four limbs and erosions on the oral as well as anogenital mucosa. Based on clinical presentation, chronology of drug exposure, past events and histopathology as diagnosis of widespread bullous fixed drug eruption was made over Steven Johnson-toxic epidermal necrolysis syndrome. Steroids were deferred and the lesions healed with minimal pigmentation within a week. Differentiating between the two entities has been historically difficult, and yet can have significant therapeutic and prognostic implications.

  12. [Bullous lichen sclerosus after radiotherapy].

    Science.gov (United States)

    Tournillac, I; Dandurand, M; Guillot, B

    1998-02-01

    Bullous lichen sclerosus is an uncommon observation after radiotherapy and can be misdiagnosed as a radiodermitis or recurrence of the neoplasia. Two women developed bullous lichen sclerosus after radiotherapy. The delay after radiotherapy was 4 months and 10 years respectively. Irradiation dose was 60 and 64 grays. The lesions covered more than the irradiated zone in one case. Stabilization or regression of the lesions was obtained with cases I topical corticosteroids, with acitretine in one case. These cases, and similar cases reported in the literature, underline the fact that the condition has only been reported in women. This is probably because of the nature of the neoplasias treated (breast cancer in 20 cases and cervical cancer in 1). The delay to onset of the skin lesions are quite variable. Lichen sclerosus or morphea may be observed in the irradiated zone but may also appear at a distance. These lesions are not associated with recurrence of the initial cancer. As no association between breast cancer and localized sclerodermia has been found, the causal role is probably played by radiotherapy, producing a Koebner phenomena in predisposed tissue.

  13. Bullous Pemphigoid Masquerading as Erythema Annulare Centrifugum.

    Science.gov (United States)

    Yu-Yang, Shiang; Chu-Sung Hu, Stephen; Yiao-Lin, Sheng

    2017-10-01

    Dear Editor, Bullous pemphigoid (BP), a relatively common autoimmune blistering disease in the elderly, is characterized by large, tense bullae on urticarial, erythematous, or normal skin. However, atypical BP with polymorphic clinical presentations is rarely encountered, leading to misdiagnosis and delayed treatments (1). BP with lesions resembling erythema gyratum repens or figurate erythema has been regarded as a paraneoplastic phenomenon (1). Herein we report a case with erythema annulare centrifugum-like presentation of BP without evidence of underlying malignancy. A 64-year-old woman first presented with multiple large, tense bullae on the trunk and four extremities. She was diagnosed with BP according to the typical clinical, histopathological, and direct immunofluorescence findings. There were no annular lesions at that time. After a treatment course of systemic corticosteroids and azathioprine, the cutaneous symptoms were controlled. One year after discontinuing her medications, a pruritic bullous eruption reappeared with several annular erythematous plaques (Figure 1, a). The patient reported no mucosal involvement and took no new medications before the onset of skin lesions. On physical examination, multiple circular and arcuate erythematous lesions with slightly raised borders were seen on the trunk and both legs. Some erosions and tiny vesicles were noted on the erythematous edges. There were no other systemic symptoms or abnormalities. Laboratory studies, including complete blood count, liver and renal function tests, electrolytes, antinuclear antibody, complement levels, anti-Ro and anti-La antibodies, urine routine, stool routine, and chest X-ray, were normal. The biopsy specimen obtained from the rim of the annular lesions revealed slight vacuolar change at the dermoepidermal junction and perivascular and interstitial lymphocytic infiltration with numerous eosinophils in the upper dermis (Figure 1, b). Direct immunofluorescence showed linear

  14. Postpartum bullous pemphigoid – A case report

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    Malar Nisha Raveendran

    2017-04-01

    Full Text Available Bullous pemphigoid (BP is an acquired autoimmune blistering disease occurring in the elderly more than 70 years of age though may occur during young age and childhood. BP is categorized by the development of urticarial plaques surmounted by sub epidermal blisters, and the deposition of immunoglobulin and complement at the basement membrane zone (BMZ of the skin. BP is associated with other diseases, such as diabetes mellitus, thyroid disorders, rheumatoid arthritis and malignancies. Heat shock proteins (HSP are a family of proteins that are produced by cells in response to exposure to stressful conditions. Heat shock protein 90 (HSP90 inhibitors potentially target for the autoimmune disease and chronic inflammatory diseases. We present a case of 21 year old lactating female, a known case of hyperthyroidism with an abrupt onset of fluid filled vesicles and bullae over the abdomen and limbs since 3 days associated with itching. She had similar episodes before and was diagnosed and treated for BP. She had a flare up of the disease due to the personal stress in the patient as Heat shock proteins plays an important role in the pathophysiology of BP. Following treatment upon continuous follow ups, there were no flare up of the disease. Here in this patient, apart from hypothyroidism, stress also acts as a trigger in BP.

  15. Intertriginous bullous morphea: A clue for the pathogenesis?

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    Kavala Mukaddes

    2007-01-01

    Full Text Available Bullae occurring in lesions of morphea are uncommon. The cause of bullae formation in morphea is multifactorial, although lymphatic obstruction from the sclerodermatous process is considered the likeliest cause. Bullous morphea may be confused clinically with lichen sclerosus et atrophicus since both diseases may cause bullae in sclerodermatous plaques. A 69-year-old woman presented with a history of generalized morphea diagnosed 9 years earlier; and a 1-month history of pruritic bullae on her inframammary folds, axillary regions, lower abdomen, upper extremities and inguinal folds. Physical examination revealed multiple erythematous erosions, hemorrhagic vesicles and eroded bullae with slight scale or crusts overlying hypopigmented, indurated, shiny plaques. Skin biopsy revealed prominent edema in the papillary dermis, resulting in bulla formation and thickening of collagen fibers within the dermis. Direct immunofluorescence was negative. According to histologic and clinical features, the diagnosis of bullous morphea was established.

  16. Bullous leukemia cutis mimicking facial cellulitis*

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    Caldato, Luciana de Sales; Britto, Juliana de Sousa; Niero-Melo, Ligia; Miot, Hélio Amante

    2016-01-01

    Bullous leukemia cutis is an uncommon clinical manifestation of cutaneous infiltration by leukemic cells, from B-cell chronic lymphocytic leukemia. We present the case of a 67-year-old, female, chronic lymphocytic leukemia patient. She was taking chlorambucil and developed facial edema with erythema and warmth, misjudged as facial cellulitis. Two days later, she developed bullous lesions in the arms, legs, neck and face. The histopathology of facial and bullous lesions confirmed leukemia cutis. All lesions disappeared following the administration of rituximab combined with cycles of fludarabine and cyclophosphamide. Although soft tissue infections are common complications in patients undergoing chemotherapy, leukemia cutis can also resemble cellulitis. PMID:27192532

  17. Tropical-wood-induced bullous erythema multiforme.

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    Shimizu, S; Chen, K R; Pratchyapruit, W O; Shimizu, H

    2000-01-01

    We report a case of bullous erythema multiforme caused by an exotic wood, pao ferro (Machaerium scleroxylon). A 25-year-old female, a luthier (guitar maker) who often handles a variety of woods, developed bullous erythema multiforme. A patch test confirmed a positive reaction to one of the exotic woods, pao ferro. A subsequent accidental short contact with pao ferro 5 months following the first incidence induced a similar exudative erythema. Exotic woods such as pao ferro should be added to the list of contact allergens that can induce bullous erythema multiforme. Copyright (R) 2000 S. Karger AG, Basel.

  18. Scabies masquerading as bullous pemphigoid: scabies surrepticius

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    Cohen PR

    2017-08-01

    Full Text Available Philip R Cohen Department of Dermatology, University of California San Diego, La Jolla, CA, USA Abstract: Scabies, a parasitic infestation caused by the mite Sarcoptes scabiei, is diagnosed by observing either the mite, its ova, or its excrement. The mite tracts, known as burrows and a characteristic presentation of the pruritic condition, are typically found on the web spaces between the fingers. Other cutaneous lesions include excoriated papules, pustules, and vesicles. However, atypical clinical variants of scabies, such as bullous, crusted, hidden, incognito, nodular, and scalp forms of the parasitic infestation, mimic the morphologic features of other non-parasitic dermatoses. A 76-year-old man presented with pruritic blisters and urticarial plaques that demonstrated not only pathology changes, but direct immunofluorescence also showed findings of bullous pemphigoid. His condition improved, but did not resolve, with topical corticosteroid cream for the management of the primary autoimmune blistering disorder. When other family members subsequently developed scabies, the correct diagnosis for his condition, bullous scabies, was established by demonstrating mites, ova, and scybala on a mineral oil preparation from a skin scraping of a newly appearing burrow. Bullous scabies can masquerade not only clinically, but also both pathologically and immunologically as bullous pemphigoid. Scabies serrupticius is introduced as a unifying term to designate all of the non-classic presentations of S. scabiei mite infestation. Keywords: bullous, crusted, egg, hidden, incognito, masquerade, mimic, mite, nodular, Norwegian, pemphigoid, Sarcoptes scabiei, scabies, scalp, scybala, surrepticius

  19. Medical image of the week: bullous emphysema

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    Tey KR

    2016-04-01

    Full Text Available No abstract available. Article truncated at 150 words. A 63-year-old gentleman, with a history of 90-pack-years of smoking and stage IV chronic obstructive pulmonary disease was receiving home oxygen at 2 L/min at baseline. He has had multiple prior hospital admissions for respiratory failure. Over the past 2 weeks he has had increased production of sputum, associated with worsening shortness of breath. He is on fluticasone-salmeterol inhaler, albuterol inhaler, and tiotropium as an outpatient. On examination, he was hemodynamically stable, SpO2 was 92% on 4L/min of oxygen. He was in obvious respiratory distress, in a tripod position with tachypnea and using respiratory accessory muscles. Lung examination revealed diffuse expiratory wheezing. Chest radiograph shows severe emphysema (Figure 1. Chest computed tomography showed diffuse centrilobular and bullous emphysema (Figure 2. He was treated as an acute severe exacerbation of COPD and was eventually discharged to follow-up with the pulmonary clinic. Emphysema is defined as alveolar destruction and airspace enlargement distal ...

  20. Bullous impetigo and pregnancy: Case report and review of blistering conditions in pregnancy.

    Science.gov (United States)

    Cohen, Philip R

    2016-04-18

     Bullous impetigo results from Staphylococcus aureus (S. aureus) release of exfoliative toxins type A and type B thatresults in flaccid, easily ruptured, bullae in the upper layers of the epidermis.  Physiologic, gestation-associated, and incidental skin changes can occur in pregnancy.  Blisters in pregnant women can occur secondary to either common skin disorders orspecific dermatoses of pregnancy.  To describe a pregnant woman with bullous impetigo and review bullous conditions in pregnant women.  PubMed was used to search the following terms, separately and in combination:  blister, blistering, bullous, gestationis, herpes, herpetiformis, impetigo, pemphigoid, pregnancy, pregnant, psoriasis, pustular, virus. All papers were reviewed and relevant manuscripts, along with their reference citations, were evaluated.  Flaccid, easily rupturing, pustules, which developed into superficial annular erosions with peripheral scale and central healing appeared in a woman of 7-weeks gestation and allergy to penicillin on her lower abdomen, suprapubic region, perineum, buttocks, and proximal legs.  A bacterial culture subsequently isolated methicillin-susceptible S. aureus.  All of the lesions resolved after treatment with clindamycin.  Bullous impetigo should be considered in the differential diagnosis of common skin diseases presenting as blistersin pregnant women.

  1. Calculation of cut-off values based on the Autoimmune Bullous Skin Disorder Intensity Score (ABSIS) and Pemphigus Disease Area Index (PDAI) pemphigus scoring systems for defining moderate, significant and extensive types of pemphigus.

    Science.gov (United States)

    Boulard, C; Duvert Lehembre, S; Picard-Dahan, C; Kern, J S; Zambruno, G; Feliciani, C; Marinovic, B; Vabres, P; Borradori, L; Prost-Squarcioni, C; Labeille, B; Richard, M A; Ingen-Housz-Oro, S; Houivet, E; Werth, V P; Murrell, D F; Hertl, M; Benichou, J; Joly, P

    2016-07-01

    Two pemphigus severity scores, Autoimmune Bullous Skin Disorder Intensity Score (ABSIS) and Pemphigus Disease Area Index (PDAI), have been proposed to provide an objective measure of disease activity. However, the use of these scores in clinical practice is limited by the absence of cut-off values that allow differentiation between moderate, significant and extensive types of pemphigus. To calculate cut-off values defining moderate, significant and extensive pemphigus based on the ABSIS and PDAI scores. In 31 dermatology departments in six countries, consecutive patients with newly diagnosed pemphigus were assessed for pemphigus severity, using ABSIS, PDAI, Physician's Global Assessment (PGA) and Dermatology Life Quality Index (DLQI) scores. Cut-off values defining moderate, significant and extensive subgroups were calculated based on the 25th and 75th percentiles of the ABSIS and PDAI scores. The median ABSIS, PDAI, PGA and DLQI scores of the three severity subgroups were compared in order to validate these subgroups. Ninety-six patients with pemphigus vulgaris (n = 77) or pemphigus foliaceus (n = 19) were included. The median PDAI activity and ABSIS total scores were 27·5 (range 3-84) and 34·8 points (range 0·5-90·5), respectively. The respective cut-off values corresponding to the first and third quartiles of the scores were 15 and 45 for the PDAI, and 17 and 53 for ABSIS. The moderate, significant and extensive subgroups were thus defined, and had distinguishing median ABSIS (P < 0·001), PDAI (P < 0·001), PGA (P < 0·001) and DLQI (P = 0·03) scores. This study suggests cut-off values of 15 and 45 for PDAI and 17 and 53 for ABSIS, to distinguish moderate, significant and extensive pemphigus forms. Identifying these pemphigus activity subgroups should help physicians to classify and manage patients with pemphigus. © 2016 British Association of Dermatologists.

  2. Definitions and outcome measures for bullous pemphigoid : Recommendations by an international panel of experts

    NARCIS (Netherlands)

    Murrell, Dedee F.; Daniel, Benjamin S.; Joly, Pascal; Borradori, Luca; Amagai, Masayuki; Hashimoto, Takashi; Caux, Frederic; Marinovic, Branka; Sinha, Animesh A.; Hertl, Michael; Bernard, Philippe; Sirois, David; Cianchini, Giuseppe; Fairley, Janet A.; Jonkman, Marcel F.; Pandya, Amit G.; Rubenstein, David; Zillikens, Detlef; Payne, Aimee S.; Woodley, David; Zambruno, Giovanna; Aoki, Valeria; Pincelli, Carlo; Diaz, Luis; Hall, Russell P.; Meurer, Michael; Mascaro, Jose M.; Schmidt, Enno; Shimizu, Hiroshi; Zone, John; Swerlick, Robert; Mimouni, Daniel; Culton, Donna; Lipozencic, Jasna; Bince, Benjamin; Grando, Sergei A.; Bystryn, Jean-Claude; Werth, Victoria P.

    Our scientific knowledge of bullous pemphigoid (BP) has dramatically progressed in recent years. However, despite the availability of various therapeutic options for the treatment of inflammatory diseases, only a few multicenter controlled trials have helped to define effective therapies in BP. A

  3. PSEUDOSINDACTILIA EN EPIDERMÓLISIS BULLOSA Pseudosyndactylia in bullous epidermolysis

    Directory of Open Access Journals (Sweden)

    Enríque Vergara Amador

    2009-01-01

    Full Text Available La epidermólisis bullosa comprende un grupo de patologías que se caracterizan por la fragilidad de la piel, formación de ampollas, y en las formas distróficas, la formación de pseudosindactilias. Debido a lo exótico de la entidad y la dificultad para el enfoque de tratamiento, se presenta un caso clínico con desarrollo de pseudosindactilias, característico usualmente de las formas distróficas. Se describe en aspectos clínicos de la entidad, el tratamiento quirúrgico de las pseudosindactilias y de las contracturas en las manos, y se discuten aspectos de la enfermedad y de los tipos de tratamientoBullous epidermolysis comprises a group of pathologies characterized by skin fragility, formation of bullae and, in its dystrophic forms, by the formation of pseudosyndactylias. Due to the exotic nature of the disease and the difficulty in focusing its treatment, a case is presented in which pseudosyndactylias developed, a usual characteristic of the dystrophic forms. This article addresses clinical aspects of bullous epidermolysis, surgical treatment of pseudosyndactilia and hand contractures and other aspects of the disease and its treatment

  4. [Hypocomplementaemic urticarial vasculitis with bullous lesions and pericardial involvement].

    Science.gov (United States)

    Kervarrec, T; Binois, R; Bléchet, C; Estève, É

    2015-10-01

    Hypocomplementemic urticarial vasculitis syndrome (HUVS) is a rare disease involving urticarial cutaneous vasculitis, hypocomplementaemia and systemic manifestations. Pericardial involvement occurs in very rare cases. We report a case of HUVS associated with specific pericarditis and bullous lesions. A 63-year-old woman consulted for chronic urticaria that had appeared ten months earlier. Her skin lesions were associated with weight loss of 10 kg, deterioration of respiratory function and abdominal pain. Leukocytoclastic vasculitis was seen in the skin biopsy sample. Hypocomplementaemia and anti C1q antibodies were present and a diagnosis of HUVS was made. During hospitalisation, extensive compressive pericardial effusion was identified, and histological examination of the biopsy revealed specific pericardial lymphocytic vasculitis. During follow-up, four episodes of infectious pneumonitis were noted. Bullous skin lesions were also observed. HUVS is a disease caused by an antibody against C1q complement responsible for urticarial lesions and vasculitis antibodies. To our knowledge, there have been only five reports in the literature of pericardial injury associated with HUVS. In our case, histological examination of the pericardium demonstrated lymphocytic vasculitis. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  5. Lúpus eritematoso sistêmico bolhoso na infância: relato de caso Bullous systemic lupus erythematosus in the childhood: case report

    Directory of Open Access Journals (Sweden)

    Mariana Discacciati Chiminazzo

    2007-06-01

    Full Text Available É apresentado caso de lúpus eritematoso bolhoso na infância. Doente do sexo feminino, com nove anos, apresentava erupção vesicobolhosa no tronco, região cervical, genital e membros. O exame anatomopatológico mostrou bolha subepidérmica com neutrófilos, a imunofluorescência direta revelou depósito linear de IgA, IgM, IgG e C3 na zona da membrana basal, e a indireta foi negativa. Os anticorpos antinucleares e o anti-Sm estavam positivos. Houve regressão do quadro com dapsona e prednisona. Trata-se de caso raro de lúpus eritematoso sistêmico (LES na infância que se iniciou com bolhas disseminadas. O LES bolhoso deve ser incluído no diagnóstico diferencial das erupções bolhosas na infância.We report a case of bullous systemic lupus erythematosus in a 9-year-old female, with a vesiculobullous eruption on the trunk, neck, genitals and limbs. A skin biopsy specimen showed subepidermal blister with neutrophils. Direct immunofluorescence revealed deposition of IgA, IgG, IgM and C3 at the epithelial basement membrane zone and indirect immunofluorescence was negative. Antinuclear antibodies and anti-Sm were positive. Resolution of the blisters occurred following treatment with dapsone and prednisone. This is a rare case of systemic lupus erythematous (SLE in the childhood, whose initial manifestation was a bullous eruption. Bullous SLE should be considered in the differential diagnosis of children presenting with generalized bullous eruption.

  6. Systemic Lupus Erythematosus and Bullous Pemphigoid with Dramatic Response to Dapsone.

    Science.gov (United States)

    Maggio, Maria Cristina; Corsello, Giovanni; Prinzi, Eugenia; Cimaz, Rolando

    2017-03-29

    BACKGROUND Bullous pemphigoid is an autoimmune blistering disease, with relapses, isolated or associated with other autoimmune diseases such as systemic lupus erythematosus (SLE). Joint manifestations rapidly respond to small or moderate doses of corticosteroids, whereas skin manifestations usually respond to antimalarial drugs. CASE REPORT We describe the clinical case of an 11-year-old girl with SLE. She showed bullous skin lesions with arthralgia, mild proteinuria, resolved after steroid treatment. At the tapering of her prednisone dose, the patient had new skin lesions requiring an increased dose of prednisone. She started dapsone at the dosage of 1 mg/kg/day, maintaining low dose prednisone; this treatment was successfully followed by the dramatic disappearance of skin lesions and limb pain. CONCLUSIONS Bullous skin lesions can represent the first clinical presentation of pediatric SLE and could influence the treatment and the outcome of these patients. This case showed an atypical course as both skin manifestations and arthritis promptly and persistently resolved with dapsone without the use of high-dose glucocorticoids. Only a few cases of patients with SLE associated with bullous pemphigoid have been reported in the literature, and very few in the pediatric population.

  7. Extracellular matrix alterations in human corneas with bullous keratopathy.

    Science.gov (United States)

    Ljubimov, A V; Burgeson, R E; Butkowski, R J; Couchman, J R; Wu, R R; Ninomiya, Y; Sado, Y; Maguen, E; Nesburn, A B; Kenney, M C

    1996-05-01

    To uncover abnormalities of extracellular matrix (ECM) distribution in human corneas with pseudophakic and aphakic bullous keratopathy (PBK/ABK). Indirect immunofluorescence with antibodies to 27 ECM components was used on frozen sections of 14 normal and 20 PBK/ABK corneas. Fibrillar deposits of an antiadhesive glycoprotein tenascin in the anterior and posterior stroma, epithelial basement membrane (BM), bullae and subepithelial fibrosis (SEF) areas, and posterior collagenous layer (PCL) were revealed in disease corneas. Tenascin in midstroma, which was observed in some cases, correlated with decreased visual acuity. In normal central corneas, tenascin was never found. Other major ECM abnormalities in PBK/ABK corneas compared to normals included: discontinuous epithelial BM straining for laminin-1 (alpha 1 beta 1 gamma 1), entactin/nidogen and fibronectin; accumulation of fibronectin and alpha 1-alpha 2 type IV collagen on the endothelial face of the Descemet's membrane; and abnormal deposition of stromal ECM (tenascin, fibronectin, decorin, types I, III, V, VI, VIII, XII, XIV collagen) and BM components (type IV, collagen, perlecan, bamacan, laminin-1, entactin-nidogen, fibronectin) in SEF areas and in PCL. The study provides a molecular description of an ongoing fibrosis on the epithelial, stomal, and endothelial levels in PBK/ABK corneas. These fibrotic changes may follow initial endothelial damage after cataract surgery, may be caused by the upregulation of fibrogenic cytokines, and may play a significant role in the progression of bullous keratopathy.

  8. Epidermal naevi and bullous aplasia cutis congenita in a neonate.

    Science.gov (United States)

    Fryburg, J S; Greer, K E

    1993-01-01

    The case of a neonate with cutaneous lesions consistent with epidermal naevi is presented. In addition to typical epidermal naevi, this baby had an unusual, bullous form of aplasia cutis congenita. Although aplasia cutis has been described as bullous and has been found in association with the epidermal naevus syndrome, both of these occurrences are rare in medical publications. This case illustrates an unusual presentation of epidermal naevi with bullous aplasia cutis congenita and raises difficult diagnostic and counselling issues. Images PMID:8301655

  9. Bullous Pemphigoid as a Harbinger of Metastatic Cholangiocarcinoma - A Rarity.

    Science.gov (United States)

    Mirgh, Sumeet Prakash; Jobanputra, Yash B; Sharma, Purva; Mishra, Vikas A; Shah, Virti D; Sharma, Akhilesh

    2017-05-01

    Bullous pemphigoid (BP) is an autoimmune blistering disorder of the skin first described in 1953. A decade later, antibodies were described targeting the cutaneous basement membrane zone. The association of Bullous pemphigoid with malignancy is debatable1 but reported in many case reports.2-6 We report a 79 year old male with cholangiocarcinoma that presented with bullous pemphigoid as a paraneoplastic phenomenon. © Journal of the Association of Physicians of India 2011.

  10. Bullous Pemphigoid in Iranian Patients: A Descriptive Study on 122 Cases

    Directory of Open Access Journals (Sweden)

    Cheyda Chams Davatchi

    2012-05-01

    Full Text Available Bullous pemphigoid is an immunobullous disease with high mortality and morbidity. Different aspects and characteristics in the patients vary in different areas in the world. Our objective was to study clinical and demographic characteristics of bullous pemphigoid in Iranian patients. In a retrospective descriptive study, we reviewed 122 patients with bullous pemphigoid within 1987-2007. Demographic characteristics, clinical manifestations, treatment, relapses and outcome were evaluated. The mean age of 122 patients was 65 ± 18.11 years including 35.2% male and 64.8% female. The most common manifestations were cutaneous bullae (97.5%. 27% had oral lesions. 30.3% had eosinophillia. 90 patients(73.8% received oral prednisolone, 29 patients (23.8% topical steroid, 2 patients tetracycline and 1 patient dapsone. 89 patients were followed after admission. Out of them 44 patients experienced first relapse and 22 patients second relapse. 41 cases (46% were completely controlled. 11 cases (12% were not controlled. Clinical and general characteristics of bullous pemphigoid patients differ in various regions in the world.

  11. Epidermolysis bullosa acquisita in a 17-year-old boy with Crohn's disease

    National Research Council Canada - National Science Library

    Russo, Irene; Ferrazzi, Anna; Zanetti, Irene; Alaibac, Mauro

    2015-01-01

    Epidermolysis bullosa acquisita is a rare, acquired, autoimmune subepidermal blistering disease of the skin, characterised by blisters and erosions, especially in trauma-prone sites and extensor skin...

  12. Photodynamic therapy effective for the treatment of actinic keratosis and basal cell carcinoma in bullous pemphigoid patients.

    Science.gov (United States)

    Canavan, Theresa N; de la Feld, Salma Faghri; Huang, Conway; Sami, Naveed

    2017-06-01

    Treating skin cancers and extensive actinic keratosis in patients with bullous pemphigoid (BP) can be challenging. Treatment options pose unique risks in these patients as surgical wounds can have delayed wound healing and photodynamic therapy (PDT) may exacerbate their blistering disease. We report the successful use of PDT to treat actinic keratosis and skin cancers in two patients with BP, both of whom had excellent response to PDT and tolerated treatment without any bullous disease flares. Carefully selected patients with skin cancers and stable, well controlled BP can be safely considered for treatment using PDT. Copyright © 2017 Elsevier B.V. All rights reserved.

  13. Bullous pemphigoid : Serum antibody titre and antigen specificity

    NARCIS (Netherlands)

    Pas, H H; de Jong, M C; Jonkman, M F; Heeres, K; Slijper-Pal, I J; van der Meer, J B

    1995-01-01

    2 antigens have been identified as possible targets for autoantibody depositions in bullous pemphigoid: a 230-kD protein (BP230) and a 180-kD protein (BP180). We studied the relationship of these 2 antigens with the immunofluorescence determined serum antibody titre: 2 groups of bullous pemphigoid

  14. Extracellular matrix alterations in human corneas with bullous keratopathy

    DEFF Research Database (Denmark)

    Ljubimov, A V; Burgeson, R E; Butkowski, R J

    1996-01-01

    PURPOSE. To uncover abnormalities of extracellular matrix (ECM) distribution in human corneas with pseudophakic and aphakic bullous keratopathy (PBK/ABK). METHODS. Indirect immunofluorescence with antibodies to 27 ECM components was used on frozen sections of 14 normal and 20 PBK/ABK corneas....... RESULTS. Fibrillar deposits of an antiadhesive glycoprotein tenascin in the anterior and posterior stroma, epithelial basement membrane (BM), bullae and subepithelial fibrosis (SEF) areas, and posterior collagenous layer (PCL) were revealed in disease corneas. Tenascin in midstroma, which was observed...... in some cases, correlated with decreased visual acuity. In normal central corneas, tenascin was never found. Other major ECM abnormalities in PBK/ABK corneas compared to normals included: discontinuous epithelial BM straining for laminin-1 (alpha 1 beta 1 gamma 1), entactin/nidogen and fibronectin...

  15. Bullous scabies in an adult: A case report with review of literature

    Directory of Open Access Journals (Sweden)

    Rameshwar M Gutte

    2013-01-01

    Full Text Available Scabies is an infestation caused by Sarcoptes scabiei, characterized by polymorphous lesions that may include burrows, papules, nodules, excoriation, and crusts. Vesicular and bullous lesions are rather rare. Bullous scabies is regarded as a distinct subtype of scabies, closely resembling bullous pemphigoid. Here, we report a case of bullous scabies in an adult male and review the literature.

  16. Detection of type VII collagen autoantibodies before onset of bullous systemic lupus erythematosus

    Science.gov (United States)

    Grabell, Daniel A.; Matthews, Loderick A.; Yancey, Kim B.; Chong, Benjamin F.

    2016-01-01

    Importance Anti-type VII collagen autoantibodies are often detectable in patients with bullous systemic lupus erythematosus (BSLE); however their timing of appearance preceding onset of disease is unknown. Observations We report the case of a 50-year-old female with a history of systemic lupus erythematosus who presented with vesicles and bullae around her lips, trunk, axillae, arms, and thighs. Histologic analysis as well as immunofluorescence and immunoblot studies confirmed the diagnosis of BSLE. Immunoblotting and ELISA studies of the patient’s serum obtained three months prior to the onset of BSLE showed presence of anti-type VII collagen autoantibodies. Levels of anti-type VII collagen IgG increased after bullous lesions appeared. Within one month after initiating dapsone and increasing the dose of prednisone, skin lesions promptly resolved. A year after onset of BSLE, her anti-type VII collagen IgG decreased below levels observed prior to the inception of her bullous lesions. Conclusions and Relevance This study shows that anti-type VII collagen autoantibodies can precede the clinical appearance of BSLE. The subsequent increase and decrease in the levels of circulating anti-type VII collagen autoantibodies, which mirrored skin disease activity, support a potential role in their initiation of disease. PMID:25671758

  17. Accuracy of ultrasound, thermography and subepidermal moisture in predicting pressure ulcers: a systematic review.

    Science.gov (United States)

    Oliveira, A L; Moore, Z; O Connor, T; Patton, D

    2017-05-02

    Our aims were to: establish the clinical significance of ultrasound, thermography, photography and subepidermal moisture (SEM) measurement; determine the accuracy of ultrasound, thermography, photography and SEM measurement in detecting skin/tissue damage; determine the relative accuracy of one of these assessment methods over another; make recommendations for practice pertaining to assessment of early skin/tissue damage. The following databases, Cochrane Wounds Group Specialised Register, The Cochrane Central Register of Controlled Trials, Ovid MEDLINE, Ovid EMBASE, Elsevier version, EBSCO CINAHL, ClinicalTrials.gov , WHO International Clinical Trials Registry (ICTR) and The EU Clinical Trials Register were searched for terms including; thermography, ultrasound, subepidermal moisture, photograph and pressure ulcer. We identified four SEM, one thermography and five ultrasound studies for inclusion in this review. Data analysis indicated that photography was not a method which allowed for the early prediction of PU presence. SEM values increased with increasing tissue damage, with the sacrum and the heels being the most common anatomical locations for the development of erythema and stage I PUs. Thermography identified temperature changes in tissues and skin that may give an indication of early PU development; however the data were not sufficiently robust. Ultrasound detected pockets of fluid/oedema at different levels of the skin that were comparable with tissue damage. Thus, SEM and ultrasound were the best methods for allowing a more accurate assessment of early skin/tissue damage. Using the EBL Critical Appraisal Tool the overall validities of the studies varied between 33.3-55.6%, meaning that there is potential for bias within all the included studies. All of the studies were situated at level IV, V and VII of the evidence pyramid. Although the methodological quality of the studies warrants consideration, these studies showed the potential that SEM and

  18. Bullous aplasia cutis congenita: case report and review of the literature.

    Science.gov (United States)

    Garcia-Romero, Maria Teresa; Narvóez-Rosales, Veránica; Hojyo-Tomoka, Maria Teresa

    2011-05-01

    Aplasia cutis congenita is a rare condition characterized by the absence of skin and sometimes other underlying structures such as bone or dura. It can be a part of various syndromes and can be associated with multiple genetic diseases, malformation patterns, or a combination of all. It is even considered as a form frustre of a neural tube defect in several literatures. Bullous aplasia cutis congenita is a clinical subtype of the condition, with extremely few cases reported in the literature. It presents as a cystic or bullous lesion at birth, which eventually transforms into an atrophic, flat scar covered by a thin epithelium. Some cases present with a dark collar hair sign around the lesion, which can be even more indicative of an underlying neural tube defect. Management remains controversial and depends on the characteristics of the lesion, but conservative treatment is usually chosen.

  19. Bullous aplasia cutis congenita: Case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Maria Teresa Garcia-Romero

    2011-01-01

    Full Text Available Aplasia cutis congenita is a rare condition characterized by the absence of skin and sometimes other underlying structures such as bone or dura. It can be a part of various syndromes and can be associated with multiple genetic diseases, malformation patterns, or a combination of all. It is even considered as a form frustre of a neural tube defect in several literatures. Bullous aplasia cutis congenita is a clinical subtype of the condition, with extremely few cases reported in the literature. It presents as a cystic or bullous lesion at birth, which eventually transforms into an atrophic, flat scar covered by a thin epithelium. Some cases present with a dark collar hair sign around the lesion, which can be even more indicative of an underlying neural tube defect. Management remains controversial and depends on the characteristics of the lesion, but conservative treatment is usually chosen.

  20. Metronidazole-Induced Bullous Pemphigoid: A Case Report.

    Science.gov (United States)

    Moitra, Saibal; Sen, Sukanta; Banerjee, Indranil; Sikder, Ayan; Das, Prasanta

    2015-12-01

    Bullous pemphigoid is an autoimmune cutaneous blistering disorder, the exact pathogenesis of which is still not fully elucidated. Drug-induced bullous pemphigoid eruptions are rare but have been reported earlier with the use of frusemide, psoralens, ibuprofen, galantamine hydrobromide, ACE inhibitors like captopril, spironolactone, penicillin, ampicillin, levofloxacin, penicillamine. We hereby report a case of metronidazole induced bullous pemphigoid (BP) in a 52-year-old male patient suffering from liver abscess following 4 days of drug administration. The skin biopsy findings obtained from the patient were consistent with the diagnosis of bullous pemphigoid (BP). Metronidazole was discontinued and symptomatic treatment was offered to the patient. Following withdrawal of metronidazole, the bullae subsided in the next 7-10 days without any significant residual scarring. The causality assessment performed as per the Naranjo algorithm revealed the case to be probable (Naranjo score 7).

  1. Bullous impetigo caused by Streptococcus salivarius: a case report.

    Science.gov (United States)

    Brook, I

    1980-01-01

    A 19-month-old child presented with bullous impetigo around the perineal region, penis, and left foot. Streptococcus salivarius was the only isolate recovered from the lesions. The child was treated with parenteral penicillin, debridement of the bulli, and local application of silver sulphadiazine cream. This case of bullous impetigo illustrates another aspect of the pathogenicity of Strep. salivarius. Images Fig. 1 Fig. 2 PMID:7002959

  2. Discovery of a patient with strongly suspected bullous pemphigoid in a ward by oral health care providers

    OpenAIRE

    Kanda, N; SOGA, Y; Meguro, M.; Tanabe, A; Yagi, Y; Himuro, Y; Fujiwara, Y.; Takashiba, S; Kobayashi, N.

    2011-01-01

    Objectives: Oral health care providers may discover systemic diseases incidentally from signs observed in the oral cavity. Here, we report a case in which oral health care providers in a hospital discovered a patient with strongly suspected bullous pemphigoid (BP), which is a relatively rare but important disease, in a ward. Methods: The patient was a 78-year-old Japanese woman admitted to our hospital because of severe Alzheimer's disease. We discovered recurrent ulcers in the oral mucosa an...

  3. Mediators of Mast Cells in Bullous Pemphigoid and Dermatitis Herpetiformis

    Directory of Open Access Journals (Sweden)

    Agnieszka Zebrowska

    2014-01-01

    Full Text Available Bullous pemphigoid (BP and dermatitis herpetiformis (DH are skin diseases associated with inflammation. However, few findings exist concerning the role of mast cells in autoimmune blistering disease. Skin biopsies were taken from 27 BP and 14 DH patients, as well as 20 healthy individuals. Immunohistochemistry was used to identify the localization and mast cell expression of TNFα and MMP9 in skin lesions and perilesional skin. The serum concentrations of TNFα, MMP9, chymase, tryptase, PAF, and IL-4 were measured by immunoassay. TNFα and MMP9 expression in the epidermis and in inflammatory influxed cells in the dermis was detected in skin biopsies from patients. Although these mediators were found to be expressed in the perilesional skin of all patients, the level was much lower than that in lesional skin. Increased serum PAF levels were observed in BP patients. Mast cells may play an essential role in activating inflammation, which ultimately contributes to the tissue damage observed in BP and DH. Our findings suggest that differences in the pattern of cytokine expression directly contribute to variations in cellular infiltration in DH and BP.

  4. Enzyme-linked immunosorbent assay for the combination of bullous pemphigoid antigens 1 and 2 in the diagnosis of bullous pemphigoid.

    Science.gov (United States)

    Roussel, Aude; Benichou, Jacques; Randriamanantany, Zely Arivelo; Gilbert, Danièle; Drenovska, Kossara; Houivet, Estelle; Tron, François; Joly, Pascal

    2011-03-01

    To assess the usefulness of enzyme-linked immunosorbent assay (ELISA) assessment of the combination of bullous pemphigoid antigen 1 (BPAG1) and BPAG2 in the diagnosis of bullous pemphigoid (BP). Retrospective study of serum samples from patients with BP. Tertiary care center. A total of 190 patients with newly diagnosed BP and 78 controls with other autoimmune bullous diseases. Serum samples were tested using commercialized BPAG1 and BPAG2 ELISA and indirect immunofluorescence (IIF). The sensitivity and specificity of ELISA for the combination of BPAG1 and BPAG2 in the diagnosis of BP were contrasted with ELISA for each of the antigens alone and with IIF. The sensitivity and specificity of ELISA for the combination of BPAG1 and BPAG2 were 87% and 88%, respectively, compared with 79% and 90% for BPAG2 ELISA, 61% and 96% for BPAG1 ELISA, and 81% and 63% for IIF. The combination of BPAG1 ELISA and BPAG2 ELISA permitted 8% and 16% gains in sensitivity compared with each of BPAG2 ELISA and BPAG1 ELISA alone, respectively. Anti-BPAG1 antibodies were detected in 15 of 40 BP serum samples with no anti-BPAG2 antibodies (38%) and in 8 of 13 serum samples from patients with BP and mucosal involvement (62%) compared with 2 of 22 samples of cicatricial pemphigoid (P = .002) and 0 of 16 epidermolysis bullosa acquisita serum samples (P ELISA values were more closely correlated with initial extent of BP lesions (r = 0.44, P ELISA values (r = 0.16, P = .03). Since the combination of BPAG1 and BPAG2 ELISA only slightly increases the sensitivity of BP diagnosis over BPAG2 ELISA alone, BPAG1 ELISA could be adequately proposed in a minority of BP cases with mucosal involvement and in those with no circulating anti-BPAG2 antibodies.

  5. Clinical Relevance of Autoantibodies in Patients with Autoimmune Bullous Dermatosis

    Directory of Open Access Journals (Sweden)

    Lilla Mihályi

    2012-01-01

    Full Text Available The authors present their experience related to the diagnosis, treatment, and followup of 431 patients with bullous pemphigoid, 14 patients with juvenile bullous pemphigoid, and 273 patients with pemphigus. The detection of autoantibodies plays an outstanding role in the diagnosis and differential diagnosis. Paraneoplastic pemphigoid is suggested to be a distinct entity from the group of bullous pemphigoid in view of the linear C3 deposits along the basement membrane of the perilesional skin and the “ladder” configuration of autoantibodies demonstrated by western blot analysis. It is proposed that IgA pemphigoid should be differentiated from the linear IgA dermatoses. Immunosuppressive therapy is recommended in which the maintenance dose of corticosteroid is administered every second day, thereby reducing the side effects of the corticosteroids. Following the detection of IgA antibodies (IgA pemphigoid, linear IgA bullous dermatosis, and IgA pemphigus, diamino diphenyl sulfone (dapsone therapy is preferred alone or in combination. The clinical relevance of autoantibodies in patients with autoimmune bullous dermatosis is stressed.

  6. [Small cell lung cancer associated with paraneoplastic bullous pemphigoid].

    Science.gov (United States)

    Lakhdar, N; El Khattabi, W; Lahroussi, M; Afif, H; Aichane, A

    2014-06-01

    The broncho-pulmonary small cell carcinoma is the most common cancer provider paraneoplastic syndrome especially neurological and endocrine but also cutaneous syndrome. Paraneoplastic dermatosis do not result from a direct extension of cancer and are not metastases, but their presence is suggestive of an underlying tumor. The evolution of the dermatosis is parallel to that of cancer: treating cancer results in the regression of cutaneous manifestations. We report an observation of a 44-year-old smoker, who was hospitalized for a tissue excavated process associated with bullous dermatosis. The transmural puncture biopsy finds small cell carcinoma. The skin biopsy objective bullous pemphigoid. The evolution under chemotherapy was marked regression of bullous lesions and the patient died later after metastatic extension. Cutaneous paraneoplastic syndrome appears only in a minority of cancer patients, but its recognition is very important for early diagnosis. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  7. Infectious complications in bullous pemphigoid: an analysis of risk factors.

    Science.gov (United States)

    Phoon, Yee Wei; Fook-Chong, Stephanie M C; Koh, Hong Yi; Thirumoorthy, Thamotharampillai; Pang, Shiu Ming; Lee, Haur Yueh

    2015-05-01

    Infections are common in bullous pemphigoid and contribute to significant mortality. We sought to define the spectrum of infectious complications and to identify associated risk factors in a bullous pemphigoid cohort. A retrospective cohort study conducted at an academic medical center. In all, 97 patients were included. Infectious complications occurred in 54 patients (56%) and the median duration from diagnosis to first episode of infection was 3 months. Bacteremia occurred in 14 patients (26%) and 26 of 30 deaths (87%) were attributable to infections. On univariate analysis, significant risk factors include low Karnofsky score (risk factors for infectious complications include functional impairment and the presence of dementia, which may allow for better risk stratification and individualized treatment of bullous pemphigoid. Copyright © 2015 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  8. Bullous Kaposiform Hemangioendothelioma Masquerading as Aplasia Cutis Congenita.

    Science.gov (United States)

    Steen, Aaron J; Shin, Joseph H; Pace, Nicole C; Edgar, Mark; Clay, Michael R; Linos, Konstantinos; Barton, Dorothea T; Mann, Julianne A

    2016-09-01

    We present the case of a male infant with violaceous bullae on the scalp that were initially thought to be bullous aplasia cutis but at 3 months of age were diagnosed as a kaposiform hemangioendothelioma. This diagnosis should be considered when evaluating newborns with bullous plaques on the scalp that do not heal in the first 2-3 weeks of life. Kaposiform hemangioendothelioma (KHE) is a rare vascular tumor that typically presents as a violaceous to purpuric plaque at birth or early infancy. It may be associated with Kasabach-Merritt phenomenon (KMP), a potentially life-threatening consumptive coagulopathy. © 2016 Wiley Periodicals, Inc.

  9. Paraneoplastic Pemphigus and Autoimmune Blistering Diseases Associated with Neoplasm: Characteristics, Diagnosis, Associated Neoplasms, Proposed Pathogenesis, Treatment.

    Science.gov (United States)

    Kartan, Saritha; Shi, Vivian Y; Clark, Ashley K; Chan, Lawrence S

    2017-02-01

    Autoimmune paraneoplastic and neoplasm-associated skin syndromes are characterized by autoimmune-mediated cutaneous lesions in the presence of a neoplasm. The identification of these syndromes provides information about the underlying tumor, systemic symptoms, and debilitating complications. The recognition of these syndromes is particularly helpful in cases of skin lesions presenting as the first sign of the malignancy, and the underlying malignancy can be treated in a timely manner. Autoimmune paraneoplastic and neoplasm-associated bullous skin syndromes are characterized by blister formation due to an autoimmune response to components of the epidermis or basement membrane in the context of a neoplasm. The clinical manifestations, histopathology and immunopathology findings, target antigens, associated neoplasm, current diagnostic criteria, current understanding of pathogenesis, and treatment options for a selection of four diseases are reviewed. Paraneoplastic pemphigus manifests with clinically distinct painful mucosal erosions and polymorphic cutaneous lesions, and is often associated with lymphoproliferative neoplasm. In contrast, bullous pemphigoid associated with neoplasm presents with large tense subepidermal bullae of the skin, and mild mucosal involvement, but without unique clinical features. Mucous membrane pemphigoid associated with neoplasm is a disorder of chronic subepithelial blisters that evolve into erosions and ulcerations that heal with scarring, and involves stratified squamous mucosal surfaces. Linear IgA dermatosis associated with neoplasm is characterized by annularly grouped pruritic papules, vesicles, and bullae along the extensor surfaces of elbows, knees, and buttocks. Physicians should be aware that these autoimmune paraneoplastic and neoplasm-associated syndromes can manifest distinct or similar clinical features as compared with the non-neoplastic counterparts.

  10. Bullous impetigo associated with Abiotrophia defectiva in an immunocompetent adult.

    Science.gov (United States)

    Anderson, Heather M; Miller, Cathy; Kemp, Earl; Huntington, Mark K

    2012-07-01

    Infection of humans by Abiotrophia defectiva, a nutritionally variant streptococcus, most commonly takes the form of endocarditis, though a variety of other manifestations ranging from central nervous system abscesses to orthopaedic infections have been seen. We report here what we believe is the first case of bullous impetigo associated with this organism.

  11. Bullous pemphigoid resembling erythema gyratum repens – case report

    Directory of Open Access Journals (Sweden)

    Małgorzata P. Dominiak

    2017-09-01

    Full Text Available Introduction. Bullous pemphigoid is one of the most common autoimmune bullous dermatoses. It is typically diagnosed in elderly patients and can have various clinical presentations. So far, only individual cases of erythema gyratum repens-like bullous pemphigoid have been described in literature worldwide. Objective. Presentation of the case of a patient with bullae forming a wood grain arrangement. Case report. A 76-year-old female patient hospitalised at the Department of Dermatology with erythematous and edematous figurate lesions and tense bullae on the trunk and extremities. On direct immunofluorescence, complement deposits at the basement membrane zone were found. BIOCHIP indirect immunofluorescence revealed circulating anti-BP180 IgG antibodies. Conclusions . In patients with suspected bullous pemphigoid, direct and indirect immunofluorescence assays are required. As part of the diagnosis of both pemphigoid and erythema gyratum repens, malignancy needs to be excluded as a potential cause of skin lesions. In the presented patient, medical history and additional tests did not demonstrate the presence of a neoplasm. The patient requires further clinical follow-up.

  12. BULLOUS PEMPHIGOID SUCCESSFULLY CONTROLLED BY TETRACYCLINE AND NICOTINAMIDE

    NARCIS (Netherlands)

    KOLBACH, DN; REMME, JJ; BOS, WH; JONKMAN, MF; DEJONG, MCJM; PAS, HH; VANDERMEER, JB

    In 1986, Berk and Lorincz reported the efficacy of tetracycline and nicotinamide in the treatment of bullous pemphigoid (BP). In the present study of seven patients with BP, we found that a regimen of 2 g tetracycline combined with 2 g nicotinamide daily was effective in clearing the skin lesions.

  13. Bullous Lichen Planus in an Indian female | Puri | Sudanese Journal ...

    African Journals Online (AJOL)

    We describe bullous lichen planus in an. Indian female who had itchy erythematous papular lesions with vesicles and bullae predominantly over the dorsa of both legs. The patient was subjected to histopathological examination after which the diagnosis was confirmed. The patient was put on oral steroids and dapsone.

  14. Place of human amniotic membrane immunoblotting in the diagnosis of autoimmune bullous dermatoses.

    Science.gov (United States)

    Grootenboer-Mignot, S; Descamps, V; Picard-Dahan, C; Nicaise-Roland, P; Prost-Squarcioni, C; Leroux-Villet, C; Champagnat, C; Delaval, A; Aucouturier, F; Crickx, B; Chollet-Martin, S

    2010-04-01

    Fine analysis of antiskin autoantibodies can contribute to the differential diagnosis of autoimmune bullous dermatoses. To develop a high-performance immunoblotting method using human amniotic membrane as the antigen source, and to compare it with current laboratory methods. Sera from 113 patients were tested by immunoblotting (IB), rat and monkey oesophagus and salt-split skin indirect immunofluorescence (IIF), and enzyme-linked immunosorbent assay (ELISA) quantification of anti-BP180-NC16a and anti-BP230, or antidesmoglein (Dsg) 1 and 3 antibodies. There were 56 cases of bullous pemphigoid (BP), 22 cases of mucous membrane pemphigoid (MMP), eight cases of epidermolysis bullosa acquisita (EBA), two cases of bullous systemic lupus erythematosus (BSLE), 17 cases of pemphigus vulgaris (PV), and four cases each of pemphigus foliaceus (PF) and paraneoplastic pemphigus (PNP). In BP, the three methods had similar sensitivity (84-89%) for both anti-BP180-NC16a and anti-BP230 antibody detection. In MMP, autoantibodies (mainly directed against BP180 or laminin 332 subunits) were detected in 77% of patients by IB, compared with only 9% by IIF on rat and monkey oesophagus and 36% on salt-split skin, and 14% by anti-BP180-NC16a and anti-BP230 ELISA. In patients with pemphigus, ELISA had 92% sensitivity for anti-Dsg1 and 3, but IB and rat bladder IIF were necessary to confirm PNP by revealing specific and rare patterns (antidesmoplakin I/II, antienvoplakin and antiperiplakin antibodies). IB also revealed anticollagen VII antibodies in 60% of patients with EBA and BSLE, and antibodies to BP180, BP230 and Dsg3 in a few patients who were negative using the other two techniques. Amniotic membrane immunoblotting is an interesting diagnostic tool for bullous diseases, as the entire panel of autoantibodies can be detected with a single extract. This method improves the identification of complex and heterogeneous autoimmune processes in conjunction with IIF and ELISA, and is

  15. Linear IgA Bullous Dermatosis Secondary to Infliximab Therapy in a Patient with Ulcerative Colitis.

    Science.gov (United States)

    Hoffmann, Jochen; Hadaschik, Eva; Enk, Alexander; Stremmel, Wolfgang; Gauss, Annika

    2015-01-01

    Linear IgA bullous disease (LABD) is a rare vesiculobullous autoimmune skin disorder whose etiology and pathogenesis are not completely understood. Its occurrence has been related to malignancies, inflammatory diseases and several drugs. This report describes a 49-year-old Caucasian male with a 14-year history of ulcerative colitis who received infliximab to treat the refractory course of his bowel disease. During induction therapy with infliximab, he developed LABD. Treatment with infliximab was discontinued, and the skin lesions were successfully treated with oral steroids and dapsone. Considering the close chronological relation between administration of the tumor necrosis factor-α inhibitor and onset of the skin disease, we hypothesize that this is the first reported case of infliximab-induced LABD. Similar to psoriasis, it may represent a 'paradoxical' autoimmune reaction triggered by anti-tumor necrosis factor-α therapy.

  16. Descemet-stripping automated endothelial keratoplasty for vitrectomized cases with traumatic aniridia and aphakic bullous keratopathy

    Directory of Open Access Journals (Sweden)

    Eguchi H

    2012-09-01

    Full Text Available Hiroshi Eguchi, Tatsuro Miyamoto, Fumika Hotta, Machiko Tomida, Masayuki Inoue, Yoshinori MitamuraDepartment of Ophthalmology, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokushima, JapanAbstract: The surgical indication for Descemet-stripping automated endothelial keratoplasty (DSAEK is largely limited to phakic or pseudophakic cases of endothelial dysfunction with normal pupils, because the endothelial lenticule is generally attached to the recipient cornea by use of gas tamponade into the anterior chamber. Although it may be desirable for vitrectomized cases with aniridia and aphakic bullous keratopathy without capsule support to undergo DSAEK, one of the major problems is lenticule detachment during surgery or in the postoperative period. To perform DSAEK in such cases, special surgical techniques are needed in order to facilitate adhesion of the lenticule. Herein, we describe a suture technique for attaching the endothelial lenticule in DSAEK for aniridic and aphakic cases that have undergone vitrectomy for traumatic vitreoretinal disease.Keywords: traumatic aniridia, aphakic bullous keratopathy, Descemet-stripping automated endothelial keratoplasty, vitrectomy

  17. Development of bullous pemphigoid during treatment of psoriatic onycho-pachydermo periostitis with ustekinumab.

    Science.gov (United States)

    Nakayama, Chihiro; Fujita, Yasuyuki; Watanabe, Mika; Shimizu, Hiroshi

    2015-10-01

    Ustekinumab is a human monoclonal antibody that specifically binds to the p40 subunit of interleukin (IL)-12 and IL-23, inhibiting the activity of both cytokines, thereby blocking the T-helper (Th)1 and Th17 inflammatory pathways. While biologic agents have dramatically changed the strategies of psoriasis treatment, increasing cases of autoimmune diseases during the use of such agents have been reported. We experienced a case of bullous pemphigoid occurring during treatment of a rare variant of psoriatic arthritis, psoriatic onycho-pachydermo periostitis with ustekinumab. Only six cases of autoimmune blistering diseases during treatment with biologic agents have ever been reported including our case, and we herein review the published work of these cases. Dermatologists must be attentive to the possibility of autoimmune blistering diseases during ustekinumab treatment. © 2015 Japanese Dermatological Association.

  18. A case of bullous pemphigoid ınduced by vildagliptin.

    Science.gov (United States)

    Keseroglu, Havva Ozge; Taş-Aygar, Gamze; Gönül, Müzeyyen; Gököz, Ozay; Ersoy-Evans, Sibel

    2017-06-01

    Bullous pemfigoid (BP), an autoimmune disorder, can also be induced by some medications. Vildagliptin is a new drug used to treat diabetes mellitus (DM). Recently, a few cases of vildagliptin-induced BP have been described in the literature. We report a patient with BP in which vildagliptin was thought to be as a possible causative agent. The awareness of BP development risk during gliptin therapy can prevent unnecessary usage of systemic drugs with serious side effects.

  19. Annular bullous lesions with atypical erythema multiforme in leprosy.

    Science.gov (United States)

    Shah, Aishani; Mahajan, Rashmi; Ninama, Kishan; Bilimoria, Freny

    2014-09-01

    Erythema nodosum leprosum (ENL) is an immune complex-mediated reaction that may complicate the course of multibacillary leprosy. Bullous lesions in Type II reaction, though reported, are exceedingly rare. We report the case of a 32 year old female patient who presented initially at our OPD with erythema nodosum. Cutaneous examination revealed impaired sensation over dorsum of right foot and thickened right lateral popliteal nerve. Slit skin smear (SSS) from ear lobes revealed AFB with a bacteriological index of 2+. She was started on MDT, tablet ofloxacin 200 mg twice a day, and 30 mg oral prednisolone. Two months later, she presented with generalised pruritus, large target lesions over the back, and hemorrhagic bullae over lower extremities and annular pattern of bullae, over both arms. A SSS was repeated which was positive for AFB. Histopathology from bullous lesions was consistent with ENL. Direct Immunofluorescence (DIF) study was negative. Our patient improved rapidly after she was started on thalidomide 100 mg twice daily, with withdrawal of ofloxacin. Erythema Multiforme (EMF) and annular bullous lesions have been reported in patients on treatment with ofloxacin. This case is being presented due to the unusual and varied manifestation of Type II lepra reaction in a 34 year old female patient.

  20. Successful treatment of bullous lichen planus with acitretin monotherapy. Review of treatment options for bullous lichen planus and case report.

    Science.gov (United States)

    Rallis, Efstathios; Liakopoulou, Angeliki; Christodoulopoulos, Constantinos; Katoulis, Alexandros

    2016-12-31

    Bullous lichen planus (BLP) is a rare variant of lichen planus, characterized by the development of vesicular and bullous lesions, of skin, nails, hair and/or mucosa. We present a case of 63-year-old woman with BLP, unresponsive to previous therapies with topical corticosteroids, topical calcipotriol, antihistamines and oral cyclosporine (4 mg/kg/day for 4 months). She was already receiving treatment for arterial hypertension, hyperlipidemia, atrial fibrillation and uncontrolled diabetes mellitus. Acitretin was administered for 5 months with complete remission of BLP lesions and no major side effects. This is probably the first reported case of BLP treated with acitretin monotherapy. In this case acitretin was an efficacious and well-tolerated therapeutic option for BLP.

  1. STERILE HYPOPYON IRIDOCYCLITIS DURING THE TREATMENT OF PSEUDOPHAKIC BULLOUS KERATOPATHY WITH HYDROPHYLIC BANDAGE LENS

    OpenAIRE

    Toker, Ebru; Bavbek, Tayfun; Kazokoğlu, Haluk; Yenice, Özlem

    2016-01-01

    Hydrophilic bandage lenses have proven to be a useful treatment modality in bullous keratopathy for pain relief and visual improvement. Some complications may arise after the application of bandage lenses. We present a sterile hypopyon iridocyclitis case in a pseudophakic bullous keratopathy using a bandage contact lens.Key Words: Hypopyon iridocyclitis, Bandage contact lens

  2. Clinical features of a toddler with bilateral bullous retinoschisis with a novel RS1 mutation

    Directory of Open Access Journals (Sweden)

    Satoshi Katagiri

    2017-04-01

    Conclusions and importance: We report the detailed retinal structure in a genetically identified case of bullous retinoschisis. The notable finding was that the cavity of bullous retinoschisis contained a number of fiber-like strands as observed in the cavity of typical retinoschisis.

  3. Bullous aplasia cutis congenita with hair collar sign: A case report

    Directory of Open Access Journals (Sweden)

    Ömer Faruk Elmas

    2014-09-01

    Full Text Available Aplasia cutis congenita is a rare embryologic disorder characterized by localized or generalized absence of skin. The disease is frequently sporadic, however, it may also be familial. It usually affects the scalp, but, even rarely, it may be seen on other body areas. Skin may be affected with or without some congenital anomalies, especially bone anomalies. An 8-month-old girl presented with skin defect at the vertex since birth. A hair collar sign was observed around the lesion. In our case, bone and other systemic abnormalities were not associated with skin defect. Here, we report the case of a patient clinically diagnosed with bullous aplasia cutis congenita with hair collar sign which is a rare entity.

  4. Case Report of Bullous Pemphigoid following Fundus Fluorescein Angiography

    Directory of Open Access Journals (Sweden)

    Goktug Demirci

    2010-05-01

    Full Text Available Purpose: To report a first case of bullous pemphigoid (BP following intravenous fluorescein for fundus angiography. Clinical Features: A 70-year-old male patient was admitted to the intensive care unit with BP and sepsis. He reported a history of fundus fluorescein angiography with a pre-diagnosis of senile macular degeneration 2 months prior to presentation. At that time, fluorescein extravasated at the antecubital region. Following the procedure, pruritus and erythema began at the wrists bilaterally, and quickly spread to the entire body. The patient also reported a history of allergy to human albumin solution (Plamasteril®; Abbott 15 years before, during bypass surgery. On dermatologic examination, erythematous patches were present on the scalp, chest and anogenital region. Vesicles and bullous lesions were present on upper and lower extremities. On day 2 of hospitalization, tense bullae appeared on the upper and lower extremities. The patient was treated with oral methylprednisolone 48 mg (Prednol®; Mustafa Nevzat, topical clobetasol dipropionate 0.05% cream (Dermovate®; Glaxo SmithKline, and topical 4% urea lotion (Excipial Lipo®; Orva for presumptive bullous pemphigoid. Skin punch biopsy provided tissue for histopathology, direct immunofluorescence examination, and salt extraction, which were all consistent with BP. After 1 month, the patient was transferred to the intensive care unit with sepsis secondary to urinary tract infection; he died 2 weeks later from sepsis and cardiac failure. Conclusions: To our knowledge, this is the first reported case of BP following fundus fluorescein angiography in a patient with known human albumin solution allergy. Consideration should be made to avoid fluorescein angiography, change administration route, or premedicate with antihistamines in patients with known human albumin solution allergy. The association between fundus fluorescein angiography and BP should be further investigated.

  5. Bullous lesions, sweat gland necrosis and rhabdomyolysis in alcoholic coma

    Directory of Open Access Journals (Sweden)

    Neelakandhan Asokan

    2014-01-01

    Full Text Available A 42-year-old male developed hemorrhagic bullae and erosions while in alcohol induced coma. The lesions were limited to areas of the body in prolonged contact with the ground in the comatose state. He developed rhabdomyolysis, progressing to acute renal failure (ARF. Histopathological examination of the skin showed spongiosis, intraepidermal vesicles, and necrosis of eccrine sweat glands with denudation of secretory epithelial lining cells. With supportive treatment and hemodialysis, the patient recovered in 3 weeks time. This is the first reported case of bullous lesions and sweat gland necrosis occurring in alcohol-induced coma complicated by rhabdomyolysis and ARF.

  6. [Implantation of intraocular lenses. Bullous keratopathy in pseudophakos].

    Science.gov (United States)

    Alberth, B

    1982-09-01

    The author presents his views on the implantation of intraocular lenses, in connection with two pseudophakic bullous keratopathy cases. There is no medical indication for implantation. The question is whether the most important function of the eye, object vision, may be risked in order to avoid aniseikonia or to restore binocular vision? Knowing that vision can be restored with glasses or contact lenses, is it ethical to induce more or less severe postoperative complications by means of intraocular lenses? In view of the considerable success often achieved immediately after the operation, complications which may not arise years later should also be taken into consideration.

  7. Nursing diagnoses in patients with immune-bullous dermatosis

    Directory of Open Access Journals (Sweden)

    Euzeli da Silva Brandão

    Full Text Available ABSTRACT Objective: identify nursing diagnoses in patients with immune-bullous dermatosis. Method: a quantitative and descriptive research, carried out in three institutions located in Rio de Janeiro and Mato Grosso do Sul, Brazil, using the Client Assessment Protocol in Dermatology during a nursing consultation. Simple descriptive statistics was used for data analysis. Results: 14 subjects participated in the study, nine with a diagnosis of pemphigus vulgaris, pemphigus two and three of bullous pemphigoid. The age ranged between 27 and 82 years, predominantly females (11. 14 nursing diagnoses were discussed and identified from a clinical rationale in all study participants, representing the most common human responses in this sample. The application of the Assessment Protocol in Dermatology facilitated the comprehensive assessment, in addition to providing the identification of diagnostics according to the North American Nursing Diagnosis Association International. Conclusion: the nursing diagnoses presented confirm the necessity of interdisciplinary work during the care for this clientele. For better description of the phenomena related to the client in question, it is suggested the inclusion of two risk factors related in three diagnoses of this taxonomy. It is worth noting the contribution of the findings for the care, education and research in nursing in dermatology.

  8. IgG antibodies from patients with bullous pemphigoid bind to fusion proteins encoded by BPAg1 cDNA.

    Science.gov (United States)

    Miller, J E; Rico, M J; Hall, R P

    1993-12-01

    Bullous pemphigoid (BP) is an autoimmune blistering skin disease characterized in part by the presence of circulating and tissue-bound IgG antibodies directed against the epidermal basement membrane zone. IgG from over 95% of patients with BP have been shown to immunoprecipitate a 230-kD epidermal protein, BPAg1, which has been cloned and sequenced. Although sera from almost all patients with BP react with the 230-kD BP antigen the specific epitope(s) of BPAg1 that IgG binds is not known. We have generated fusion proteins from the 230-kD BP antigen cDNA and analyzed sera from patients with BP for binding to these fusion proteins by immunoblot. Sera from 21 of 30 (70%) patients with BP reacted with FP3A (amino acid 873-1193) compared to four of 13 (30%) normal subjects (p FP9). Twenty-four of 30 (80%) patients with BP reacted to at least one of three fusion proteins (FP3, FP3A, FP7) compared to three of 11 (27%) of the control subjects (p < 0.003). Fusion proteins FP3, FP3A, and FP7 are at the amino- or carboxyl-terminal regions of the putative central alpha-helical coiled-coil rod domain of BPAg1, which has been postulated to be involved in the self-aggregation of BPAg1. These findings demonstrate that patients with bullous pemphigoid react with multiple regions of BPAg1 and suggest that part of the pathologic consequences of these auto-antibodies in patients with bullous pemphigoid may be by the disruption of the normal self-aggregation of the BPAg1.

  9. A subepidermal blistering disorder

    African Journals Online (AJOL)

    Y Moolla. Dr Yusuf Moolla is a specialist physician in the Department of Internal Medicine at Addington Hospital, Durban, South Africa. He recently obtained an MMed from the University of KwaZulu-Natal for his work on HIV infection. Corresponding author: Y Moolla (moollayusuf@hotmail.com). A young woman presented ...

  10. Eccrine syringofibroadenomatosis in two patients with bullous pemphigoid.

    Science.gov (United States)

    Nomura, K; Hashimoto, I

    1997-01-01

    A 67-year-old man and an 84-year-old woman developed palmoplantar erythema following resolution of bullous pemphigoid (BP). Clinical manifestations of the palmoplantar lesions in these 2 patients ranged from prominent, well-demarcated erythematous areas with focal erosions and fissures to mild erythema. On histological examination, the palmoplantar erythema in one patient showed thin reticular strands of proliferating cells which connected with the epidermis and extended into the dermis, interwinding and anastomosing irregularly. The second patient showed similar mild changes with duct-like luminal formations. These histological findings were consistent with the diagnosis of eccrine syringofibroadenoma (ESFA). We speculate that these lesions developed as a result of the underlying inflammatory process in BP and conclude that ESFA associated with an inflammatory condition should be considered a new category of ESFA.

  11. Corneal collagen cross-linking effects on pseudophakic bullous keratopathy

    Directory of Open Access Journals (Sweden)

    Mohammad Mirzaei

    2014-05-01

    Full Text Available AIM: To evaluate the efficacy of riboflavin administration and ultraviolet A(UVAcross-linking on advanced symptomatic bullous keratopathy. METHODS: Fifteen patients with symptomatic pseudophakic bullous keratopathy(PBKwere included. Slit-lamp examination, visual acuity, foreign body sensation(FBSquestionnaire, corneal clarity grading, ocular pain intensity scale and corneal thickness measures with Pentacam and ultrasound pachymetry(UP, were performed before corneal cross-linking and 1 and 6mo thereafter. After using sodium chloride solution, for one week, the central 8mm(diameterof the corneal epithelium was removed, and cross-linking, with riboflavin instillation every 3min for 30min, and UVA irradiation for 30min was performed. RESULTS: Five males and 10 females with mean age of 66±13y were included. Mean follow up time was 6.2mo. Corneal transparency in all eyes was statistically significantly better 1 month after treatment than preoperatively(PP= 0.218. Foreign body sensation subsided in 70% of patients. The average CCT decreased within 1mo after the procedure(PP=0.006. The improvement in mean CDVA from preoperatively to 1mo postoperatively was statistically significant(P=0.010. At 6mo, no significant differences were observed(P=0.130. The pain scores at 1mo were statistically significantly better than preoperatively(P=0.007. At 6mo, however the mean pain score was higher than at 1mo and not statistically significantly different from the preoperative score(P=0.070. CONCLUSION: Corneal CXL significantly improved corneal transparency, corneal thickness, and ocular pain 1 month postoperatively. However, it did not seem to have a long-lasting effect in decreasing pain and maintaining corneal transparency in patients with PBK. This procedure extends the time interval for corneal transplantation and increases visualization at DSAEK procedure.

  12. Bullous impetigo in homosexual men--a risk marker for HIV-1 infection?

    Science.gov (United States)

    Donovan, B; Rohrsheim, R; Bassett, I; Mulhall, B P

    1992-01-01

    OBJECTIVE--To determine the incidence of bullous impetigo in a group of homosexual men at high risk of HIV-1 infection. DESIGN--A longitudinal descriptive study (1984-9). SETTING--A private primary care and STD clinic in Sydney, Australia. SUBJECTS--88 homosexual men documented to seroconvert to HIV-1, and 37 homosexual controls who had practised unprotected anal intercourse with another man known to be HIV-1 positive but who remained HIV-1 negative. MAIN OUTCOME MEASURE--Incidence of bullous impetigo. RESULTS--The crude annual incidence of bullous impetigo was 0.015 in subjects while they remained HIV-1 negative (10 cases) and 0.045 in early HIV-1 positive subjects (2 cases). Overall, 9% of the HIV-1 seroconverters and 9% of the HIV-1 negative controls were documented as suffering bullous impetigo over a mean of 29.2 and 39.3 months, respectively. CONCLUSIONS--Bullous impetigo in an adult could prove to be a clinical indication that a person is either infected with HIV-1 or is in close (possibly sexual) contact with a person with HIV-1 infection. If true, the recognition of bullous impetigo could provide an opportunity for behavioural intervention to limit the spread of HIV-1. Images PMID:1607190

  13. Quality of life, depression, anxiety and loneliness in patients with bullous pemphigoid. A case control study.

    Science.gov (United States)

    Kouris, Anargyros; Platsidaki, Eftychia; Christodoulou, Christos; Armyra, Kalliopi; Korkoliakou, Panagiota; Stefanaki, Christina; Tsatovidou, Revekka; Rigopoulos, Dimitrios; Kontochristopoulos, George

    2016-01-01

    Bullous pemphigoid (BP) is a chronic, autoimmune blistering skin disease that affects patients' daily life and psychosocial well-being. The aim of the study was to evaluate the quality of life, anxiety, depression and loneliness in BP patients. Fifty-seven BP patients and fifty-seven healthy controls were recruited for the study. The quality of life of each patient was assessed using the Dermatology Life Quality Index (DLQI) scale. Moreover, they were evaluated for anxiety and depression according to the Hospital Anxiety Depression Scale (HADS-scale), while loneliness was measured through the Loneliness Scale-Version 3 (UCLA) scale. The mean DLQI score was 9.45±3.34. Statistically significant differences on the HADS total scale and in HADS-depression subscale (p=0.015 and p=0.002, respectively) were documented. No statistically significant difference was found between the two groups on the HADS-anxiety subscale. Furthermore, significantly higher scores were recorded on the UCLA Scale compared with healthy volunteers (p=0.003). BP had a significant impact on quality of life and the psychological status of patients, probably due to the appearance of unattractive lesions on the skin, functional problems and disease chronicity.

  14. Molecular mechanisms of blister formation in bullous impetigo and staphylococcal scalded skin syndrome

    Science.gov (United States)

    Hanakawa, Yasushi; Schechter, Norman M.; Lin, Chenyan; Garza, Luis; Li, Hong; Yamaguchi, Takayuki; Fudaba, Yasuyuki; Nishifuji, Koji; Sugai, Motoyuki; Amagai, Masayuki; Stanley, John R.

    2002-01-01

    Bullous impetigo due to Staphylococcus aureus is one of the most common bacterial infections of man, and its generalized form, staphylococcal scalded skin syndrome (SSSS), is a frequent manifestation of staphylococcal epidemics in neonatal nurseries. Both diseases are mediated by exfoliative toxins (ETs), which show exquisite pathologic specificity in blistering only the superficial epidermis. We show that these toxins act as serine proteases with extremely focused molecular specificity to cleave mouse and human desmoglein 1 (Dsg1) once after glutamic acid residue 381 between extracellular domains 3 and 4. Mutation of the predicted catalytically active serine to alanine completely inhibits cleavage. The mutated ETs bind specifically to Dsg1 by immunofluorescence colocalization and by coimmunoprecipitation. Thus, ETs, through specific recognition and proteolytic cleavage of one structurally critical peptide bond in an adhesion molecule, cause its dysfunction and allow S. aureus to spread under the stratum corneum, the main barrier of the skin, explaining how, although they circulate through the entire body in SSSS, they cause pathology only in the superficial epidermis. PMID:12093888

  15. Concurrent pyogenic granuloma and bullous impetigo of a pregnant woman's finger.

    Science.gov (United States)

    Qin, Rosie; Cohen, Philip R

    2017-03-15

    Bullous impetigo is a superficial skininfection caused by Staphylococcus aureus (S.aureus). Pyogenic granuloma is a common benigntumor frequently associated with prior trauma.Bullous impetigo and pyogenic granuloma may occurin pregnant women. The features of a pregnant womanwith pyogenic granuloma and bullous impetigoconcurrently present in a lesion on her finger aredescribed. PubMed was used to search the followingterms: bullous impetigo, pregnancy, and pyogenicgranuloma. All papers were reviewed; relevantarticles, along with their references, were evaluatedResults: A red ulcerated nodule with a collaretteof epithelium around the tumor and surroundingbullae appeared on the fifth digit of the left hand of a31-year-old woman who was at 36 weeks gestation. Abacterial culture grew methicillin sensitive S. aureus.An excisional biopsy was performed. Histologicfindings revealed not only a benign vascular tumorwith an infiltrate of mixed inflammatory cells, butalso an intraepidermal blister. She received oralantibiotics and there was complete resolution of thefinger lesion and infection with preservation of digitfunction. Albeit uncommon, pyogenic granulomaand bullous impetigo may concurrently occur in thesame lesion. Therapeutic intervention should focuson treating both the benign skin tumor and theinfection.

  16. Descemet stripping automated endothelial keratoplasty (DSAEK with thin grafts in patients suffered bullous keratophaty with low preoperative visual acuity

    Directory of Open Access Journals (Sweden)

    S. V. Trufanov

    2014-07-01

    Full Text Available Purpose: To evaluate the results of DSAEK with thin grafts in patients suffered bullous keratophaty with low preoperative visual acuity.Methods: DSAEK with thin grafts the thickness of which was 150‑70 μm was fulfilled in 47 patients (47 eyes suffered bullous keratophaty without visible leukomas in the corneal stroma. Visual acuity prior to the operation with a maximum spectacle correction accounted for an average of 0.05±0.04. Tear film osmolarity of 20 patients (20 eyes who participated in the research was measured. Results: In follow-up period graft kept transparency in 39 patients. Visual acuity in 3 months after the operation, on average, without correction was 0.38±0.16, with a maximum of spectacle correction is 0.51± 0.18. The spherical component varied in the range from 0 to 3.75 D, with an average of 1.63 per±1.1 D. Corneal astigmatism was from 0.5 to 4.0 D, an average of 1.8±0.98 D. At preoperative osmolarity indicators were within the normal reference for both operated and non-operated eyes — 292.3±10.4 и 279.3±3.51. In a first postoperative week osmolarity was not detected while on a non-operated eye it was 278.4±1.4. After 1, 3 and 6 months osmolarity indicators on both eyes were within normal reference. Spherical component ranged from 0 to 3.75 D, averaging 1.1±1.63 D. Corneal astigmatism ranged from 0.5 to 4.0 (D, with an average of 1.8±0.98 D 1.63 per±1.1 D.Conclusion: DSAEK with thin grafts is an effective modern methods of surgical treatment of bullous keratophaty. For old patients with severe ocular pathology — concomitant eye diseases, repeated surgery of the eye, the developed stage of the keratophaty — we have not noted the apparent correlation between the thickness of the transplant, visual acuity and the time of recovery of visual functions after keratoplasty. Osmolarity in an early postoperative period is a non-informative method of diagnostics. Restoration of osmolarity level to preoperative

  17. Descemet stripping automated endothelial keratoplasty (DSAEK with thin grafts in patients suffered bullous keratophaty with low preoperative visual acuity

    Directory of Open Access Journals (Sweden)

    S. V. Trufanov

    2013-01-01

    Full Text Available Purpose: To evaluate the results of DSAEK with thin grafts in patients suffered bullous keratophaty with low preoperative visual acuity.Methods: DSAEK with thin grafts the thickness of which was 150‑70 μm was fulfilled in 47 patients (47 eyes suffered bullous keratophaty without visible leukomas in the corneal stroma. Visual acuity prior to the operation with a maximum spectacle correction accounted for an average of 0.05±0.04. Tear film osmolarity of 20 patients (20 eyes who participated in the research was measured. Results: In follow-up period graft kept transparency in 39 patients. Visual acuity in 3 months after the operation, on average, without correction was 0.38±0.16, with a maximum of spectacle correction is 0.51± 0.18. The spherical component varied in the range from 0 to 3.75 D, with an average of 1.63 per±1.1 D. Corneal astigmatism was from 0.5 to 4.0 D, an average of 1.8±0.98 D. At preoperative osmolarity indicators were within the normal reference for both operated and non-operated eyes — 292.3±10.4 и 279.3±3.51. In a first postoperative week osmolarity was not detected while on a non-operated eye it was 278.4±1.4. After 1, 3 and 6 months osmolarity indicators on both eyes were within normal reference. Spherical component ranged from 0 to 3.75 D, averaging 1.1±1.63 D. Corneal astigmatism ranged from 0.5 to 4.0 (D, with an average of 1.8±0.98 D 1.63 per±1.1 D.Conclusion: DSAEK with thin grafts is an effective modern methods of surgical treatment of bullous keratophaty. For old patients with severe ocular pathology — concomitant eye diseases, repeated surgery of the eye, the developed stage of the keratophaty — we have not noted the apparent correlation between the thickness of the transplant, visual acuity and the time of recovery of visual functions after keratoplasty. Osmolarity in an early postoperative period is a non-informative method of diagnostics. Restoration of osmolarity level to preoperative

  18. A 12-year retrospective review of bullous systemic lupus erythematosus in cutaneous and systemic lupus erythematosus patients.

    Science.gov (United States)

    Chanprapaph, K; Sawatwarakul, S; Vachiramon, V

    2017-10-01

    Objective The aim of this study was to investigate the clinical features, laboratory findings, systemic manifestations, treatment and outcome of patients with bullous systemic lupus erythematosus in a tertiary care center in Thailand. Methods We performed a retrospective review from 2002 to 2014 of all patients who fulfilled the diagnostic criteria for bullous systemic lupus erythematosus to evaluate for the clinical characteristics, extracutaneous involvement, histopathologic features, immunofluorescence pattern, serological abnormalities, internal organ involvement, treatments and outcome. Results Among 5149 patients with cutaneous lupus erythematosus and/or systemic lupus erythematosus, 15 developed vesiculobullous lesions. Ten patients had validation of the diagnosis of bullous systemic lupus erythematosus, accounting for 0.19%. Bullous systemic lupus erythematosus occurred after the diagnosis of systemic lupus erythematosus in six patients with a median onset of 2.5 months (0-89). Four out of 10 patients developed bullous systemic lupus erythematosus simultaneously with systemic lupus erythematosus. Hematologic abnormalities and renal involvement were found in 100% and 90%, respectively. Polyarthritis (40%) and serositis (40%) were less frequently seen. Systemic corticosteroids, immunosuppressants, antimalarials and dapsone offered resolution of cutaneous lesions. Conclusion Bullous systemic lupus erythematosus is an uncommon presentation of systemic lupus erythematosus. Blistering can occur following or simultaneously with established systemic lupus erythematosus. We propose that clinicians should carefully search for systemic involvement, especially hematologic and renal impairment, in patients presenting with bullous systemic lupus erythematosus.

  19. Non-Descemet’s stripping automated endothelial keratoplasty for bullous keratopathy secondary to iridoschisis

    Directory of Open Access Journals (Sweden)

    Minezaki T

    2013-07-01

    Full Text Available Teruumi Minezaki, Takaaki Hattori, Hayate Nakagawa, Shigeto Kumakura, Hiroshi GotoDepartment of Ophthalmology, Tokyo Medical University, Shinjukuku, Tokyo, JapanPurpose: To report a case of bullous keratopathy secondary to iridoschisis treated by non-Descemet's stripping automated endothelial keratoplasty (nDSAEK.Case report: A 79-year-old woman was referred to our hospital with loss of vision in the left eye. Slit lamp examination of her left eye showed a shallow anterior chamber with cataract and schisis in the inferior quadrant of iris stroma. Bullous keratopathy secondary to iridoschisis was diagnosed. Cataract surgery with iridectomy succeeded to deepen the anterior chamber and remove the floating iris leaf, although corneal edema remained. Four days later, nDSAEK was performed, which resolved corneal edema and restored visual acuity.Conclusion: The two-step surgery of cataract surgery plus iridectomy followed by nDSAEK may be an effective strategy for treating bullous keratopathy secondary to iridoschisis.Keywords: iridoschisis, bullous keratopathy, non-Descemet's stripping automated endothelial keratoplasty

  20. Whole body application of a potent topical corticosteroid for bullous pemphigoid

    NARCIS (Netherlands)

    Terra, J. B.; Potze, W. J. B.; Jonkman, M. F.

    BackgroundCurrent standard of treatment of bullous pemphigoid (BP) is systemic oral corticosteroids (CS). However, significant iatrogenic morbidity and mortality is reported. Studies have shown that topical potent CS is safer than oral prednisolone in BP. ObjectivesTo examine the local and systemic

  1. Nursing diagnoses in patients with immune-bullous dermatosis.

    Science.gov (United States)

    Brandão, Euzeli da Silva; Santos, Iraci Dos; Lanzillotti, Regina Serrão; Ferreira, Adriano Menis; Gamba, Mônica Antar; Azulay-Abulafia, Luna

    2016-08-15

    identify nursing diagnoses in patients with immune-bullous dermatosis. a quantitative and descriptive research, carried out in three institutions located in Rio de Janeiro and Mato Grosso do Sul, Brazil, using the Client Assessment Protocol in Dermatology during a nursing consultation. Simple descriptive statistics was used for data analysis. 14 subjects participated in the study, nine with a diagnosis of pemphigus vulgaris, pemphigus two and three of bullous pemphigoid. The age ranged between 27 and 82 years, predominantly females (11). 14 nursing diagnoses were discussed and identified from a clinical rationale in all study participants, representing the most common human responses in this sample. The application of the Assessment Protocol in Dermatology facilitated the comprehensive assessment, in addition to providing the identification of diagnostics according to the North American Nursing Diagnosis Association International. the nursing diagnoses presented confirm the necessity of interdisciplinary work during the care for this clientele. For better description of the phenomena related to the client in question, it is suggested the inclusion of two risk factors related in three diagnoses of this taxonomy. It is worth noting the contribution of the findings for the care, education and research in nursing in dermatology. identificar diagnósticos de enfermagem em clientes com dermatoses imunobolhosas. pesquisa quantitativa e descritiva, realizada em três instituições localizadas no Rio de Janeiro e no Mato Grosso do Sul-Brasil, aplicando o Protocolo de Avaliação do Cliente em Dermatologia, durante consulta de enfermagem. Utilizou-se a estatística descritiva simples para análise dos dados. participaram do estudo 14 sujeitos, nove com diagnóstico médico de pênfigo vulgar, dois de foliáceo e três de penfigoide bolhoso. A idade variou entre 27 e 82 anos, predominando 11 pessoas do sexo feminino. Foram discutidos 14 diagnósticos de enfermagem

  2. [Amyopathic dermatomyositis (DM) with anti-MDA5 antibodies, associated with bullous pemphigoid, Sjögren syndrome and gastric MALT lymphoma].

    Science.gov (United States)

    Garcia, B; Dabouz, F; Pascal, L; Gillard, M; Modiano, P

    2017-10-01

    The inflammatory myopathies are a heterogeneous group of muscle diseases and comprise polymyositis, dermatomyositis (DM), myopathies associated with cancers, necrotising myositis and inclusion body myositis. DM occasionally exhibits few or no muscular signs: i.e. hypomyopathic/amyopathic DM. Anti-MDA5 dermatomyositis (DM) is a rare form of dermatomyositis that is frequently amyopathic; the prognosis is linked mainly to pulmonary involvement. A 69-year-old woman treated for mucosa-associated lymphoid tissue (MALT) gastric lymphoma was referred for a bullous eruption. Based on the investigations performed, a diagnosis was made of bullous pemphigoid. At the same time, amyopathic dermatomyositis was discovered together with interstitial lung disease. Systemic steroids were introduced in combination with rituximab. A favourable outcome was achieved. Anti-MDA5 dermatomyositis must be considered systematically in all cases of pulmonary involvement associated with cutaneous signs of dermatomyositis, in which no muscular involvement is generally seen. This condition accounts for up to 7% of DM and carries a severe prognosis due to pulmonary involvement. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  3. Mesotherapy for skin rejuvenation: assessment of the subepidermal low-echogenic band by ultrasound evaluation with cross-sectional B-mode scanning.

    Science.gov (United States)

    Lacarrubba, Francesco; Tedeschi, Aurora; Nardone, Beatrice; Micali, Giuseppe

    2008-01-01

    Skin-targeted ultrasound is a noninvasive technique that has been extensively used to evaluate age-related dermal changes, and the presence of a subepidermal low-echogenic band (SLEB) has been related to chronic UVR exposure in several studies. Since SLEB echogenicity is photoage-related, the aim of this study was to evaluate, through ultrasound imaging, the effects on skin photoaging of mesotherapy, a treatment approach currently used in cosmetic dermatology for skin rejuvenation. Twenty women (mean age: 46.7 range 40-60 years) with physical signs of moderate photoaging on the dorsum of the hands were enrolled and treated with multiple microinjections of hyaluronic acid (HA) salts of biotechnological origin (1.000 Kd) every week for 4 weeks. In all subjects, ultrasound evaluation was performed at each visit and 1 week after the last treatment to evaluate SLEB echogenicity changes during treatment. At the end of study, a statistically significant (p mesotherapy with HA may be an effective treatment for skin photoaging, as confirmed by ultrasound. Follow-up investigations on larger series of patients are necessary to further evaluate the safety, effectiveness, and duration of effect of this possible therapeutic approach to skin photoaging.

  4. Half-top-hat keratoplasty is effective method for bullous keratopathy treatment

    Directory of Open Access Journals (Sweden)

    S. V. Trufanov

    2012-01-01

    Full Text Available Purpose: to evaluate outcomes of the half-top-hat keratoplasty.Methods: the study included 58 eyes that had bullous keratopathy and underwent half-top-hat keratoplasty.Results: 40 (69% patients had clear corneas whole period of observation. Graft rejection occurred in 1 eye. Mean BSCVA was0.47±0.21. Average astigmatism was 5.0±2.1 D. Mean cell endothelial count in 2 years was 2189±399 cell/mm2.Conclusion: Half-top-hat keratoplasty is effective method for bullous keratopathy surgical treatment. the operation is equal pen- etration keratoplasty in refractive results and operation time. But time of rehabilitation is shorter, sealing is better, cell endothelialcount is greater.

  5. Balloon Dilatation of Esophageal Strictures in Children With Bullous Epidermolysis: Description of Case Series

    Directory of Open Access Journals (Sweden)

    A. V. Tupylenko

    2017-01-01

    Full Text Available Esophageal strictures are the most common complications of bullous epidermolysis in children. Strictures cause the development of dysphagia that prevents oral alimentation and receipt of an adequate amount of nutrients that is accompanied by a violation of nutritional status, weight loss, and delayed physical development of a child. Disturbed swallowing can also cause aspiration syndrome, pneumonia, and airway obstruction. To eliminate dysphagia and reduce the risk of complications, it is necessary to restore esophageal patency. The article describes the results of X-ray with assisted balloon dilatation in 19 children with bullous epidermolysis and dysphagia. It is shown that this method of esophagus recanalization allows to effectively and safely restore oral alimentation of children already in the first day after intervention with a gradual expansion of the diet.

  6. Half-top-hat keratoplasty is effective method for bullous keratopathy treatment

    Directory of Open Access Journals (Sweden)

    S. V. Trufanov

    2014-07-01

    Full Text Available Purpose: to evaluate outcomes of the half-top-hat keratoplasty.Methods: the study included 58 eyes that had bullous keratopathy and underwent half-top-hat keratoplasty.Results: 40 (69% patients had clear corneas whole period of observation. Graft rejection occurred in 1 eye. Mean BSCVA was0.47±0.21. Average astigmatism was 5.0±2.1 D. Mean cell endothelial count in 2 years was 2189±399 cell/mm2.Conclusion: Half-top-hat keratoplasty is effective method for bullous keratopathy surgical treatment. the operation is equal pen- etration keratoplasty in refractive results and operation time. But time of rehabilitation is shorter, sealing is better, cell endothelialcount is greater.

  7. Disease: H00763 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00763 Transient bullous dermolysis of the newborn Transient bullous dermolysis of the newborn... ... Transient bullous dermolysis of the newborn associated with compound heterozyg...TITLE ... Genetic basis of dominantly inherited transient bullous dermolysis of the newborn

  8. Pioderma gangrenoso bolhoso e síndrome mielodisplásica Bullous pyoderma gangrenosum and myelodysplastic syndrome

    Directory of Open Access Journals (Sweden)

    Mariana Dias Batista

    2006-10-01

    Full Text Available O pioderma gangrenoso pode apresentar-se como manifestação paraneoplásica. Relata-se um caso de pioderma gangrenoso, da variante bolhosa, acompanhado de bicitopenia, em que foi evidenciado, por meio de mielograma, biópsia de medula óssea e cariótipo, padrão compatível com síndrome mielodisplásica, subtipo citopenia refratária com displasia de multilinhagens. Foi tratado com dapsona, obtendo cicatrização das lesões. O pioderma gangrenoso pode associar-se a doenças sistêmicas, devendo a síndrome mielodisplásica ser considerada nos casos acompanhados de citopenias. Portanto, o pioderma gangrenoso pode ser um marcador cutâneo de doença sistêmica de prognóstico reservado.Pyoderma gangrenosum can present as a cutaneous manifestation of paraneoplastic syndromes. A case of bullous pyoderma gangrenosum associated with bicytopenia is described. During the complementary investigation, myelogram, bone marrow biopsy and karyotype were performed, and showed a pattern consistent with myelodysplastic syndrome. The patient was treated with dapsone with improvement. Pyoderma gangrenosum can be a manifestation of systemic diseases. The possibility of myelodysplastic syndrome should always be considered in patients with pyoderma gangrenosum associated with cytopenia. Pyoderma gangrenosum could indicate poorer prognosis in patients with systemic diseases.

  9. Retrospective analysis of the forty-six patients with bullous pemphigoid followed-up in our clinic

    Directory of Open Access Journals (Sweden)

    Serkan Yazıcı

    2016-09-01

    Full Text Available Background and Design: Bullous pemphigoid (BP is an autoimmune disease characterised by widespread itchy plaques and subepithelial blisterings and usually affects the elderly population. Due to the chronic nature of the disease, to prevent the side effects of chronic steroid treatment, adjuvant immunosuppressive (mycophenolate mofetil, azathioprine, methotrexate and anti-inflammatory (tetracycline, nicotinamide, dapsone agents may be used. In this study, we retrospectively evaluated the clinical and demographic characteristics and applied treatments of 46 patients with the diagnosis of BP and compared with literature data. Materials and Methods: We retrospectively evaluated the records of 46 patients who received clinical and histopathological diagnosis of BP and followed up in our clinic between 2006 and 2013. Results: Of the 46 patients, 22 were female and 24 male. The mean age of onset was 69.54 years (range: 18-105. The duration of the lesion ranged from 1 week to 10 months with a median duration of 8 weeks. The most frequent comorbid chronic disease was hypertension detected in 28 (60.8% patients. Only four patients had a history of malignancy before the onset of the disease. Nineteen patients (42% used more than 5 agents for comorbid diseases. Thirty-two patients (69.5% used systemic corticosteroids alone and ten (22% patients needed additional adjuvant therapies. Conclusion: BP is a major cause of morbidity in the elderly population receiving multiple drug treatment. To avoid the side effects of steroid therapy, especially in patients with severe disease, short-term use of additional immunosuppressive agents appears to be safe and effective.

  10. Comparison of conventional and silicone hydrogel contact lenses for bullous keratoplasty.

    Science.gov (United States)

    Lim, Natasha; Vogt, Ursula

    2006-09-01

    To compare the efficacy and safety of conventional lenses and silicone hydrogel lenses in the treatment of bullous keratopathy. The silicone hydrogel bandage contact lenses used were Focus NIGHT & DAY and PureVision. The conventional lens used was Sauflon 85%. This was a prospective, comparative study of 22 patients with painful bullous keratopathy in one eye. Patients visited a specialty contact lens department and were fitted with all three different lens types in their affected eye for 1 month each, for a total duration of 3 months. The main outcome measures were comfort and pain relief, which patients scored on a scale that ranged from 1 to 5, with 1 being very poor and 5 being excellent. Doctors assessed the fit of the lens, its movement, and any deposit buildup. The statistical tests applied were the Kruskal-Wallis test and the Mann-Whitney test. Sixteen of the 22 patients (24 eyes) successfully completed 1 month's wear of all three bandage contact lenses. The median comfort score was 3.9 for PureVision, 3.8 for Focus NIGHT & DAY, and 2.8 for Sauflon 85%; there was a statistical significance among the three groups (P=0.031). Silicone hydrogel lenses performed better than conventional lenses for comfort. The Mann-Whitney test showed that there was no statistically significant difference for comfort scores of Focus NIGHT & DAY versus PureVision (Plenses for pain relief score. All three lens types were similarly good with regard to contact lens fit, movement, and deposit buildup. The use of silicone hydrogel lenses are a safe and effective alternative to conventional contact lenses for the treatment of bullous keratopathy.

  11. Delayed diagnosis of bullous pyoderma gangrenosum with acute ...

    African Journals Online (AJOL)

    2016-05-10

    May 10, 2016 ... or intralesional corticosteroid or cyclosporine injections may be tried in milder forms and those not associated with systemic disease. Systemic therapies administered in the treatment of PG have included minocycline, dapsone, glucocorticoids, cyclosporine, azathioprine, tacrolimus, and hyperbaric oxygen.

  12. The results descemet-stripping automated endothelial keratoplasty at bullous keratopathy

    Directory of Open Access Journals (Sweden)

    S. V. Trufanov

    2012-01-01

    Full Text Available Purpose: to evaluate outcomes of the descemet-stripping automated endothelial keratoplasty using eye drops Kombinil-Duo dur- ing postoperative period.Methods: 26 patients suffered from bullous keratopathy underwent descemet-stripping automated endothelial keratoplasty using our own technique. We applied eye drops Kombinil-Duo during postoperative period.Results: 25 patients had clear corneas whole period of observation. Graft rejection occurred in 1 eye. Mean BSCVA was 0.47±0.21.Conclusion: Kombinil-Duo has been allowed to avoid infectious complication and to increase efficiency of the operative interven-tion during postoperative period.

  13. Bullous Exudative Retinal Detachment after Retinal Pattern Scan Laser Photocoagulation in Diabetic Retinopathy

    Directory of Open Access Journals (Sweden)

    Shohei Nishikawa

    2017-10-01

    Full Text Available Laser retinal photocoagulation is the gold standard treatment for diabetic retinopathy. We describe 3 cases in which bullous exudative retinal detachment (ERD developed after pattern scan laser photocoagulation (PASCAL in diabetic retinopathy. ERD spontaneously resolved in all 3 cases with various visual courses. This case series highlights 2 key points: first, ERD can occur regardless of gender, age, glycemic control, or vitreous status and despite a moderate number of laser shots, even with PASCAL; second, ERD in nonvitrectomized eyes may cause irreversible visual loss, even if the ERD resolves within 1 month.

  14. Amiodarone-induced exudative bullous lesion and hepatotoxicity in a patient with ventricular tachycardia

    Directory of Open Access Journals (Sweden)

    Ahmet Karakurt

    2015-09-01

    Full Text Available Amiodarone is a potent, iodine rich, highly lipophilic class III antiarrhythmic drug widely used for the management of both supraventricular and ventricular arrhythmias. It tends to concentrate in tissues including fat, lung, liver cornea and skin. Several side effects have been reported in patients taking amiodarone. The mechanisms of amiodarone-induced side effects are poorly understood. Accumulation of amiodarone in tissues and organs has been suggested as a possible mechanism. The most frequent dermatologic side effects are photosensitivity, skin discoloration and erythema. This article presents the case of a patient who developed amiodarone-induced bullous skin lesions and hepatotoxicity.

  15. Bullous mycosis fungoides associated with an extensive ulcer and a severe leukemoid reaction

    Directory of Open Access Journals (Sweden)

    Shuei Sato

    2011-12-01

    Full Text Available This report presents a case of bullous mycosis fungoides associated with an extensive ulcer and a severe leukemoid reaction. The rash began as indurated erythema which was always followed by ulceration. The rashes initially responded to radiation therapy, but multiple recurrences appeared. Several bullae appeared on the trunk during the course of the illness, without any evidence of paraneoplastic pemphigus. Finally, the ulcer covered a large part of the trunk, and the patient died of sepsis with an extreme leukocyte count of 118,000/μL. A bone marrow analysis revealed a leukemoid reaction and an autopsy revealed pseudomembranous colitis.

  16. [Autoimmune blistering diseases].

    Science.gov (United States)

    Duvert-Lehembre, S; Joly, P

    2014-03-01

    Autoimmune blistering diseases are characterized by the production of pathogenic autoantibodies that are responsible for the formation of epidermal blisters. Major advances in the understanding of the pathogenesis of these disorders have allowed the development of new therapeutic agents. Recent epidemiologic data showed that bullous pemphigoid mainly affects elderly patients. Bullous pemphigoid is often associated with degenerative neurologic disorders. A major increase in the incidence of bullous pemphigoid has been observed in France. Treatment of bullous pemphigoid is mainly based on superpotent topical corticosteroids. The role of desmosomal proteins has been demonstrated in the initiation, propagation and persistence of the autoimmune response in pemphigus. Several studies have shown a correlation between anti-desmoglein antibody titers and disease activity. Pemphigus susceptibility genes have been identified. Oral corticosteroids remain the mainstay of pemphigus treatment. Dramatic and long-lasting improvement has been recently obtained with rituximab in recalcitrant types of pemphigus. Other autoimmune junctional blistering diseases are rare entities, whose prognosis can be severe. Their diagnosis has been improved by the use of new immunological assays and immunoelectronic microscopy. Immunosupressants are widely used in severe types in order to prevent mucosal sequelae. Copyright © 2013 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  17. [Evaluation of corneal biomechanics before and after up-to-date keratoplasty in patients with bullous keratopathy].

    Science.gov (United States)

    Trufanov, S V; Antonov, A A; Malozhen, S A; Siplivyy, V I

    2015-01-01

    Aim - to study biomechanical properties of the cornea in patients with bullous keratopathy before and after keratoplasty. Ocular response analyzer (ORA, Reichert) indices were studied in 37 patients (37 eyes) with bullous keratopathy before and after surgery - in 1, 2, and 6 months and then in 1, 2, 3, and 5 years. The following keratoplasty modifications were performed: ultrathin Descemet's stripping automated endothelial keratoplasty (UTDSAEK) - in 17 cases, microkeratome-assisted posterior keratoplasty (MAPK) - in 13 cases, half top-hat penetrating keratoplasty (HTH PK) - in 7 cases. Corneal hysteresis (CH) and corneal resistance factor (CRF) values were significantly decreased in non-operated bullous keratopathy eyes as compared to healthy ones (pkeratoplasty the difference between IOPcc and IOPg was 2.7, 4.3, and 3.6 mmHg in the MAPK, UTDSAEK, and HTH PK group, respectively; in 6 months - 2.6; 2.4 and 3.6 mmHg, respectively (pkeratoplasty, regardless of the exact modification, these parameters partially recover, but remain lower than normal for at least 5 years as it was in our study. Neither before the surgery (when the cornea is chronically swollen), nor after, does corneal thickness correlate with its biomechanical indices. Postoperative reduction in corneal rigidity in eyes with bullous keratopathy may be confusing and lead to underestimation of the true level of IOP, thus, causing delays in diagnosis of concomitant glaucoma.

  18. Bullous Keratopathy

    Science.gov (United States)

    ... cloudy cornea with blisters on the surface. Treatment Salty eye drops Drugs to lower pressure in the ... and treatment—surgical and nonsurgical—of eye disorders). Salty eye drops (hypertonic saline) and salty ointments are ...

  19. Bullous Pemphigoid

    Science.gov (United States)

    ... Our Fellowship Programs Residency Training Resident Calendar Board Certification Grand Rounds Resident Awards AOCD Residency Leadership Award ... at all ages. It is an autoimmune disorder, meaning it is caused when the body's immune system ...

  20. Myeloid-related proteins-8 and -14 are expressed but dispensable in the pathogenesis of experimental epidermolysis bullosa acquisita and bullous pemphigoid.

    Science.gov (United States)

    Akbarzadeh, Reza; Yu, Xinhua; Vogl, Thomas; Ludwig, Ralf J; Schmidt, Enno; Zillikens, Detlef; Petersen, Frank

    2016-03-01

    Myeloid-related protein-8 (MRP-8) and its heterodimeric partner, MRP-14 belong to the group of danger-associated molecular patterns (DAMPs) and are associated with numerous chronic human disorders. However, their functional role in autoimmunity remains largely unclear. Here, we examined the involvement of MRP-8/-14 in two difficult-to-treat autoimmune blistering diseases, epidermolysis bullosa acquisita (EBA) and bullous pemphigoid (BP). MRP-8/-14 concentrations in the sera of EBA and BP patients were quantified by ELISA. Experimental EBA and BP in mice were induced by transfer of antibodies directed against type VII or XVII collagen, respectively. Expression of MRP-8/-14 was analyzed in skin samples of these experimental mouse models. The functional role of MRP-8/-14 proteins was evaluated by the induction of experimental EBA and BP in MRP-14-deficient mice. We found serum levels of MRP-8/-14 to be elevated in both, EBA and BP patients. Furthermore, in the lesional skin of mice with experimental diseases expression of MRP-8/-14 was increased as compared to healthy controls. However, MRP-14-deficient mice were fully susceptible to experimental disease with a phenotype comparable to that of wild type controls. Although MRP-8/-14 expression is highly increased in experimental as well as human disease, these proteins do not contribute to the pathogenesis in the effector phase of EBA and BP. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  1. An atypical case of herpes simplex virus endotheliitis presented as bullous keratopathy.

    Science.gov (United States)

    Papaioannou, Lamprini; Tsolkas, Georgios; Theodossiadis, Panagiotis; Papathanassiou, Miltiadis

    2013-12-01

    To present an atypical case of herpes simplex virus (HSV) endotheliitis. The authors report the case of a 62-year-old female patient who presented with unilateral diffuse corneal edema with Descemet's membrane folds and bullae, without keratic precipitates, iritis, significant anterior chamber reaction, or intraocular pressure (IOP) elevation. The patient had no documented positive history of ocular surgery and no abnormal findings were present in the fellow eye. Endotheliitis of viral origin was suspected and Goldmann-Witmer coefficient for HSV, cytomegalovirus, and varicela zoster virus was calculated. Goldmann-Witmer coefficient was positive for HSV. Treatment with oral valacyclovir and topical dexamethasone resulted in complete resolution of corneal edema within 1 week. HSV endotheliitis can present with bullous keratopathy as the only clinical manifestation, without typical findings such as keratic precipitates, iritis, and IOP elevation.

  2. Frequent Occurrence of Aplasia Cutis Congenita in Bullous Dermolysis of the Newborn.

    Science.gov (United States)

    Diociaiuti, Andrea; Castiglia, Daniele; Giancristoforo, Simona; Guerra, Liliana; Proto, Vittoria; Dotta, Andrea; Boldrini, Renata; Zambruno, Giovanna; El Hachem, Maya

    2016-08-23

    Bullous dermolysis of the newborn (BDN) is a subtype of dystrophic epidermolysis bullosa characterized by rapid improvement in skin fragility within the first months of life, associated with typical immunofluorescence and ultrastructural features. Inheritance can be autosomal dominant or recessive. We report here 4 cases of BDN, 2 of which presented with aplasia cutis congenita of the lower extremities. All patients improved rapidly and blister formation ceased by the third month of life in 3 cases. In these patients only residual milia, nail dystrophies and atrophic scarring at sites of aplasia cutis were visible by one year. Family history indicated dominant inheritance in 2 cases, confirmed by identification of COL7A1 mutation. Molecular analysis also revealed recessive inheritance in the 2 sporadic cases. A literature search identified several patients with BDN born with skin defects localized to the lower extremities. In conclusion, these findings indicate that aplasia cutis congenita is not an infrequent manifestation of BDN.

  3. Generalized bullous fixed drug eruption imitating toxic epidermal necrolysis: a case report and literature review.

    Science.gov (United States)

    Mitre, Victoria; Applebaum, Danielle S; Albahrani, Yasser; Hsu, Sylvia

    2017-07-15

    Fixed drug eruption (FDE) is defined as sharply demarcated erythematous patches or plaques that occur secondary to systemic exposure to a causative medication. Eruptions are deemed "fixed" because upon repeated exposure they recur at previously affected sites. Generalized bullous fixed drug eruption (GBFDE) is a rare FDE variant occurring in patients with a previous history of FDE. Given the extensive cutaneous involvement and the frequent mucosal ulcerations associated with GBFDE, it is challenging to discern these lesions from Steven-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). The presence of significantly elevated lesional and serum granulysin in SJS/TEN is an important discriminating factor because granulysin levels remain significantly lower in GBFDE. The implementation of an immunochromatographic test for rapid detection of elevated granulysin levels could therefore facilitate the early diagnosis of SJS/TEN. We report a case of GBFDE to elucidate the characteristic differences in clinical presentation, histopathology, and immunohistochemistry that can facilitate diagnosis.

  4. [Mutation analysis of KRT10 gene in a patient with bullous congenital ichthyosiform erythroderma].

    Science.gov (United States)

    Zhang, Shi-de; Liu, Jing-jing; Tian, Wei; Zhao, Zheng-juan; Zhao, Jing-jun

    2011-08-01

    To investigate the gene mutation in one sporadic case of bullous congenital ichthyosiform erythroderma (BCIE), and to explore the relationship between the genotype and phenotype. DNA was extracted from the blood samples of the patient with BCIE, unaffected members of the pedigree, and 50 unrelated healthy controls. PCR was used to amplify the hot spot fragment of keratin 1 (KRT1) and keratin 10 (KRT10) gene. The PCR products were directly sequenced to detect the mutations. A heterozygous 467G>A mutation was found in the patient, resulting in the substitution of arginine (R) by histidine (H) in codon 156 (R156H) in the 1A domain of the KRT10 protein but not in the healthy individuals from the family and the 50 unrelated individuals. The mutation of 467G>A in exon 1 of KRT10 gene identified may play a major role in the pathogenic mechanism of this case of BCIE.

  5. Accuracy of indirect immunofluorescence on sodium chloride-split skin in the differential diagnosis of bullous pemphigoid and epidermolysis bullosa acquisita

    National Research Council Canada - National Science Library

    Yang, Baoqi; Wang, Chong; Chen, Shengli; Chen, Xuechao; Zhou, Guizhi; Tian, Hongqing; Yu, Meiling; Zhang, Dizhan; Shi, Zhongxiang; Zhang, Furen

    2011-01-01

    ...) is helpful to differentiate epidermolysis bullosa acquisita (EBA) from bullous pemphigoid (BP). Antibodies of BP may bind to the epidermal side of SSS, while antibodies of EBA bind to the dermal side...

  6. False-negative results in immunoblot assay of serum IgA antibodies reactive with the 180-kDa bullous pemphigoid antigen : the importance of primary incubation temperature

    NARCIS (Netherlands)

    Pas, HH; Kloosterhuis, GJ; De Jong, MCJM; Jonkman, MF

    2001-01-01

    Background Different subepidermal autoimmune blistering skin disorders are characterized by linear deposition of IgA, sometimes accompanied by linear IgG, along the epidermal basement membrane zone. Identification of the targeted autoantigen is usually attempted by immunoblotting. Although

  7. [Cicatricial pemphigoid, mucous membrane pemphigoid].

    Science.gov (United States)

    Doffoel-Hantz, Valérie; Robert, Pierre-Yves; Bédane, Christophe

    2010-10-01

    Mucous membrane pemphigoid belongs to the family of sub-epidermal bullous diseases and is clinically characterized by mucosal involvement leading to fibrosis and scarring. Cutaneous involvement is unfrequent and oral mucosa and conjunctivas are the most frequently involves mucosa. Treatment relies on anti-inflammatory and immunosuppressive drugs. The main goal is the limitation of the fibrosing potential of the autoimmune deposits within various mucous membranes. Copyright © 2010. Published by Elsevier Masson SAS.

  8. Liquen escleroso extragenital ampollar y hemorrágico: a propósito de un caso Extra-genital bullous and haemorrhagic lichen sclerosus: a case report

    Directory of Open Access Journals (Sweden)

    JM López Bertrán

    2010-06-01

    Full Text Available El liquen escleroso (LE es una enfermedad inflamatoria, crónica y benigna. De etiología desconocida, se ha vinculado con diversos factores autoinmunológicos, genéticos, hormonales, infecciosos y traumáticos. Hay dos variedades clínicas de esta enfermedad: genital y extra-genital. La localización más frecuente en ambos sexos es la genital. Se presenta un caso clínico de LE extra-genital, con lesiones cutáneas poco frecuentes, ampollares y hemorrágicas, que coexistían con placas atróficas de larga evolución, no diagnosticadas previamente.Lichen sclerosus is an inflammatory disease, benign, chronic, of unknown aetiology. It has been linked with many factors such as autoimmune, genetic, hormonal and infectious diseases, as well as trauma. There are two clinical types of this disease: genital and extra-genital. The most frequent in both sexes is the genital form. We present a rare case of extra-genital localization with bullous and haemorrhagic manifestations that co-existed with late atrophic plaques, previously undiagnosed.

  9. AUTOIMMUNE EPIDERMAL BLISTERING DISEASES

    OpenAIRE

    Ana Maria Abreu Velez; Juliana Calle; Howard, Michael S.

    2013-01-01

    Autoimmune bullous skin diseases (ABDs) are uncommon, potentially fatal diseases of skin and mucous membranes which are associated with deposits of autoantibodies and complement against distinct molecules of the epidermis and dermal/epidermal basement membrane zone (BMZ). These autoantibodies lead to a loss in skin molecular integrity, which manifests clinically as formation of blisters or erosions. In pemphigus vulgaris, loss of adhesion occurs within the epidermis. The pioneering work of Er...

  10. Corneal stromal acupuncture combined with amniotic membrane transplantation for treating bullous keratopathy

    Directory of Open Access Journals (Sweden)

    Chao-Qing Wang

    2014-06-01

    Full Text Available AIM: To investigate the clinical effect for treating bullous keratopathy(BKby anterior corneal stromal acupuncture combined with amniotic membrane transplantation.METHODS: Totally 35 patients(35 eyeswith bullous keratopathy were treated by corneal stromal acupuncture combined with amniotic membrane transplantation. All patients preoperative and postoperative underwent anterior segment OCT, corneal topography, corneal sensitivity and confocal microscopy. To observe postoperative ocular symptoms in patients with BK, recurrence of bulla, changes in corneal thickness, corneal sensitivity and changes in the organizational structure of the layers of the cornea.RESULTS: Thirty-five were followed up for 6-18mo. The symptom of pain disappeared in 32 cases(91%in the first day after operation and did not recur during follow-up. The symptom of pain relieved in 3 cases(9%in the first day after operation and disappeared in 3 days. Corneal epithelium of 9 cases(26%were all healed within 1wk, 21 cases(60%were all healed within 2wk, and 5 cases(14%were all healed within 3wk. Following up for 6-18mo, there was no recurrence of symptoms or bulla. A small amount of tiny bubbles in the surrounding area appeared in 2 cases after 3 and 4wk. All patients had no neovascularization, and had smooth corneal surface. The amnions of 30 cases(86%were thinning after 2mo, partially dissolved and absorped, not seen with the naked eye after 3mo. Thirty-four cases(97%had no changes in vision, one case(3%was from the light to front of the manual. After 2mo, corneal sensation decreased in 30 cases(86%, corneal thickness increased from preoperative 788±35μm to 940±43μm. After 12mo, corneal thickness increased to 1060±27μm. Results of confocal microscopy: after 3mo, the number density of the trigeminal nerve fibers under corneal basement membrane reduced, shallow stromal cells became into fibrotic stroma, deep stroma was more loose, and cells swelled significantly. The number of

  11. A Case of Bullous Skin Disease Presenting with Odynophagia: A Diagnostic Challenge

    Directory of Open Access Journals (Sweden)

    G. Kravvas

    2016-01-01

    Full Text Available We report a case of Epidermolysis Bullosa Acquisita (EBA that presented as a diagnostic challenge. A 60-year-old Qatari lady presented with odynophagia, oral ulceration, and weight loss. Multiple physicians investigated her for over 6 months with a multitude of tests and serial gastroscopies, all of which failed to reach a conclusive diagnosis. Only after referral to a dermatologist and full body examination was diagnosis finally achieved. After reviewing the literature, we provide a summary of EBA and highlight the importance of comprehensive clinical reviews in order to avoid unnecessary morbidity.

  12. Epidermolysis bullosa acquisita in a 17-year-old boy with Crohn's disease

    OpenAIRE

    Russo, Irene; Ferrazzi, Anna; Zanetti, Irene; Alaibac, Mauro

    2015-01-01

    Epidermolysis bullosa acquisita is a rare, acquired, autoimmune subepidermal blistering disease of the skin, characterised by blisters and erosions, especially in trauma-prone sites and extensor skin surface, scarring with formation of milia, skin fragility and nail dystrophy. Epidermolysis bullosa acquisita is extremely rare in childhood and it has been reported to be frequently associated with Crohn's disease. Furthermore, autoantibodies against type VII collagen have been found in a large ...

  13. AUTOIMMUNE EPIDERMAL BLISTERING DISEASES

    Directory of Open Access Journals (Sweden)

    Ana Maria Abreu Velez

    2013-11-01

    Full Text Available Autoimmune bullous skin diseases (ABDs are uncommon, potentially fatal diseases of skin and mucous membranes which are associated with deposits of autoantibodies and complement against distinct molecules of the epidermis and dermal/epidermal basement membrane zone (BMZ. These autoantibodies lead to a loss in skin molecular integrity, which manifests clinically as formation of blisters or erosions. In pemphigus vulgaris, loss of adhesion occurs within the epidermis. The pioneering work of Ernst H. Beutner, Ph.D. and Robert E. Jordon, M.D. confirmed the autoimmune nature of these diseases. Walter F. Lever, M.D. contributed significantly to our understanding of the histopathologic features of these diseases. Walter Lever, M.D. and Ken Hashimoto, M.D. contributed electron microscopic studies of these diseases, especially in pemphigus vulgaris and bullous pemphigoid. In bullous pemphigoid (BP, linear IgA bullous dermatosis, epidermolysis bullosa acquisita (EBA and dermatitis herpetiformis (DH, loss of adhesion takes place within or underneath the BMZ. Classic EBA demonstrates extensive skin fragility; DH is commonly associated with gluten-sensitive enteropathy, and manifests clinically with pruritic papulovesicles on the extensor surfaces of the extremities and the lumbosacral area. The clinical spectrum of bullous pemphigoid includes tense blisters, urticarial plaques, and prurigo-like eczematous lesions. Pemphigoid gestationis mostly occurs during the last trimester of pregnancy, and mucous membrane pemphigoid primarily involves the oral mucosa and conjunctivae and leads to scarring. Linear IgA bullous dermatosis manifests with tense blisters in a „cluster of jewels”-like pattern in childhood (chronic bullous disease of childhood and is more clinically heterogeneous in adulthood. Many of the autoantigens in these disorders are known and have been well characterized. ABDs may be influenced by both genetic and exogenous factors. The diagnoses of

  14. Severe bullous hypersensitivity reactions after exposure to carbamazepine in a Han-Chinese child with a positive HLA-B*1502 and negative in vitro toxicity assays: evidence for different pathophysiological mechanisms.

    Science.gov (United States)

    Elzagallaai, Abdelbaset A; Garcia-Bournissen, Facundo; Finkelstein, Yaron; Bend, John R; Rieder, Michael J; Koren, Gideon

    2011-01-01

    Drug hypersensitivity syndrome (DHS) can present in several clinical forms ranging from simple maculopapular skin rash to severe bullous reactions and multi-system dysfunction. Genetic analysis of DHS patients has revealed a striking association between carbamazepine (CBZ)-induced severe bullous reactions, such as Steven-Johnson Syndrome, and toxic epidermal necrolysis in individuals from Southeast Asia who carry a specific HLA allele (HLA-B*1502). This ethnic-specific relationship with a disease phenotype has raised the question of the commonality of the pathogenesis mechanisms of these diseases. The aim of this study was to investigate the genetic and metabolic bases of DHS development to help predict patient susceptibility. A case of carbamazepine-induced Steven-Johnson Syndrome reaction in a HLA-B*1502 positive child of Han Chinese origin, a carbamazepine-induced DHS case in a Caucasian patient and 3 healthy controls were investigated. We performed two types of in vitro toxicity assay, the lymphocyte toxicity assay (LTA) and the novel in vitro platelet toxicity assay (iPTA) on cells taken from the Chinese child 3 and 9 months after recovery from the reaction and from two healthy volunteers. We also tested the Caucasian patient, who developed CBZ-induced DHS, 3 months after the reaction. Both LTA and iPTA tests were negative 3 and 9 months after the reaction on samples from the Chinese child whereas the tests were positive in the Caucasian patient. These results strongly suggest more than one mechanistic pathway for different CBZ-induced hypersensitivity reactions in patients with different ethnic backgrounds.

  15. Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases

    Science.gov (United States)

    2016-09-26

    Other Specified Inflammatory Disorders of Skin or Subcutaneous Tissue; Pyoderma Gangrenosum; Erosive Pustular Dermatosis of the Scalp; Sweet's Syndrome; Behcet's Disease; Bowel-associated Dermatosis-arthritis Syndrome; Pustular Psoriasis; Acute Generalized Exanthematous Pustulosis; Keratoderma Blenorrhagicum; Sneddon-Wilkinson Disease; IgA Pemphigus; Amicrobial Pustulosis of the Folds; Infantile Acropustulosis; Transient Neonatal Pustulosis; Neutrophilic Eccrine Hidradenitis; Rheumatoid Neutrophilic Dermatitis; Neutrophilic Urticaria; Still's Disease; Erythema Marginatum; Unclassified Periodic Fever Syndromes / Autoinflammatory Syndromes; Dermatitis Herpetiformis; Linear IgA Bullous Dermatosis; Bullous Systemic Lupus Erythematosus; Inflammatory Epidermolysis Bullosa Aquisita; Neutrophilic Dermatosis of the Dorsal Hands (Pustular Vasculitis); Small Vessel Vasculitis Including Urticarial Vasculitis; Erythema Elevatum Diutinum; Medium Vessel Vasculitis

  16. Abnormalities of stromal structure in the bullous keratopathy cornea identified by second harmonic generation imaging microscopy.

    Science.gov (United States)

    Morishige, Naoyuki; Yamada, Norihiro; Zhang, Xu; Morita, Yukiko; Yamada, Naoyuki; Kimura, Kazuhiro; Takahara, Atsushi; Sonoda, Koh-Hei

    2012-07-27

    To identify structural alterations in collagen lamellae and the transdifferentiation of keratocytes into myofibroblasts in the corneal stroma of bullous keratopathy (BK) patients and to examine the relation of such changes to the duration of stromal edema or the underlying cause of BK. Six normal human corneas and 16 BK corneas were subjected to second harmonic generation (SHG) imaging microscopy to allow three-dimensional (3-D) reconstruction of collagen lamellae. Expression of α-smooth muscle actin (αSMA) was examined by immunofluorescence analysis and conventional laser confocal microscopy. Collagen lamellae were interwoven at the anterior stroma and uniformly aligned at the posterior stroma, whereas αSMA was not detected throughout the entire stroma of the normal cornea. Nine (56%) and 7 (44%) of the 16 BK corneas showed abnormal collagen structure at the anterior and posterior stroma, respectively. Expression of αSMA was detected in the anterior or posterior stroma of 7 (44%) and 6 (38%) of the 16 BK corneas, respectively. Disorganization of collagen lamellae and myofibroblastic transdifferentiation were detected only in corneas with a duration of stromal edema of at least 12 months. Corneas with BK as a result of birth injury showed abnormal collagen structure at the posterior stroma, whereas those with BK resulting from laser iridotomy did not. Changes in the structure of the entire stroma were detected in BK corneas with a duration of stromal edema of at least 12 months, suggesting that such changes may be progressive. In addition, the underlying cause of BK may influence structural changes at the posterior stroma.

  17. Changes in Corneal Biomechanical Properties After Descemet Stripping Automated Endothelial Keratoplasty for Pseudophakic Bullous Keratopathy.

    Science.gov (United States)

    Faramarzi, Amir; Feizi, Sepehr; Najdi, Danial; Ghiasian, Leila; Karimian, Farid

    2016-01-01

    To compare corneal biomechanical properties and intraocular pressure (IOP) in eyes with pseudophakic bullous keratopathy (PBK) before and after Descemet stripping automated endothelial keratoplasty (DSAEK). This prospective nonrandomized intrasubject comparative study was conducted on 44 eyes of 22 patients with the diagnosis of PBK who underwent DSAEK in one eye. IOP was measured by Goldmann applanation tonometer, and central corneal thickness was measured by ultrasound pachymetry. The ocular response analyzer was used to measure corneal hysteresis (CH), corneal resistance factor (CRF), Goldmann-related IOP, and cornea-compensated IOP. The same measurements were performed in the normal fellow eyes which served as controls. All measurements were performed preoperatively and 6 months postoperatively. The mean patient age was 67 ± 14 years. Mean preoperative CH and CRF values in the DSAEK group were 5.77 ± 2.94 and 6.39 ± 2.72 mm Hg, respectively, which were significantly lower than those measured in the control group (8.2 ± 2.47 and 8.43 ± 2.49 mm Hg, respectively, P = 0.001 for both comparisons). Postoperatively, CH and CRF demonstrated a significant increase (7.09 ± 3.68 mm Hg, P = 0.05 and 8.21 ± 3.84 mm Hg, P = 0.03, respectively) in operated eyes approaching the normal values measured in the control eyes. Corneal biomechanical parameters were significantly lower in PBK eyes than in the normal fellow eyes. These metrics significantly increased after DSAEK and reached values measured in the normal fellow eyes.

  18. Successful Treatment of Hemorrhagic Bullous Henoch-Schönlein Purpura with Oral Corticosteroid: A Case Report

    Directory of Open Access Journals (Sweden)

    Celebi Kocaoglu

    2013-01-01

    Full Text Available Henoch-Schönlein purpura (HSP is a vasculitis of small-sized blood vessels, resulting from immunoglobulin-A-mediated inflammation. It is the most common acute systemic vasculitis in childhood and mainly affects skin, gastrointestinal tract, joints, and kidneys. The characteristic rash of HSP consists of palpable purpuric lesions 2 to 10 mm in diameter concentrating in the buttocks and lower extremities. The occurrence of hemorrhagic bullae in children with HSP is rarely encountered. This report describes a 4.5-year-old female patient with HSP associated with hemorrhagic bullous lesions.

  19. Descemet stripping automated endothelial keratoplasty in Fuchs′ endothelial dystrophy versus pseudophakic bullous keratopathy

    Directory of Open Access Journals (Sweden)

    Mohammad Ali Javadi

    2016-01-01

    Full Text Available Purpose: To compare clinical and confocal scan outcomes after Descemet stripping automated endothelial keratoplasty (DSAEK performed for Fuchs′ endothelial dystrophy (FED versus pseudophakic bullous keratopathy (PBK. Methods: This retrospective comparative study included 47 consecutive eyes of 39 patients with the diagnosis of FED (n = 29, group 1 or PBK (n = 18, group 2 that underwent DSAEK. Clinical outcomes were compared between the study groups. At the final follow-up examination, confocal microscopy was used to measure and compare central corneal and graft thickness as well as endothelial cell density and morphology between the two groups. Results: Mean age at the time of surgery was 65.2 ± 11.8 and 69.4 ± 12.5 years in groups 1 and 2, respectively (P = 0.27. Follow-up period was 23.6 ± 14.0 months in group 1 and 25.6 ± 15.7 months in group 2 (P = 0.79. Postoperative best spectacle-corrected visual acuity was significantly better in group 1 than in group 2 until postoperative month 6. Afterwards, the two study groups were comparable in this regard. At the final follow-up examination, spherical equivalent refractive error was + 0.39 ± 1.46 diopters (D in group 1 and + 0.80 ± 1.47 D in group 2 (P = 0.45. Postoperative keratometric astigmatism was 1.02 ± 0.83 D and 2.36 ± 0.67 D, respectively (P < 0.001. Mean central graft thickness was 98.0 ± 33.3 μm in group 1 and 107.6 ± 28.0 μm in group 2 (P = 0.45. No statistically significant difference was observed between the two groups in terms of the postoperative endothelial cell density. Conclusion: The outcomes of DSAEK surgery were comparable between FED and PBK. All grafts were clear despite the lower than normal endothelial cell counts.

  20. Type XVII Collagen Regulates Lamellipod Stability, Cell Motility, and Signaling to Rac1 by Targeting Bullous Pemphigoid Antigen 1e to alpha 6 beta 4 Integrin

    NARCIS (Netherlands)

    Hamill, Kevin J.; Hopkinson, Susan B.; Jonkman, Marcel F.; Jones, Jonathan C. R.

    2011-01-01

    Rac1 activity, polarity, lamellipodial dynamics, and directed motility are defective in keratinocytes exhibiting deficiency in beta 4 integrin or knockdown of the plakin protein Bullous Pemphigoid Antigen 1e (BPAG1e). The activity of Rac, formation of stable lamellipodia, and directed migration are

  1. Bullous pemphigoid and linear IgA dermatosis sera recognize a similar 120-kDa keratinocyte collagenous glycoprotein with antigenic cross-reactivity to BP180

    NARCIS (Netherlands)

    Pas, HH; Kloosterhuis, GJ; Heeres, K; vanderMeer, JB; Jonkman, MF

    Circulating IgG from a large subset of bullous pein; phigoid (SP) patients reacted on immunoblot with a 120-kDa protein in conditioned keratinocyte culture medium and in keratinocyte cell extracts, A protein with a similar molecular weight was recognized by circulating IgA from a subset of patients

  2. Transplante de membrana amniótica na ceratopatia bolhosa Amniotic membrane transplantation for bullous keratopathy

    Directory of Open Access Journals (Sweden)

    Alessandra Guerra Daros Castellano

    2004-12-01

    pain relief and improvement of the recurrent epithelial side effects in patients with symptomatic bullous keratopathy and poor vision. METHODS: A prospective survey was conducted with 9 patients, from April/2000 to December/2001 at the "Hospital Universitário Evangélico de Curitiba - HUEC". Before the surgery, the medical records of each patient were studied and a complete ocular examination was performed. The patients were evaluated once a week or more frequently, including the first postoperative (PO, seventh PO, fourteenth PO and thirtieth PO day. A monthly evaluation was performed at the sixth month after the operation. RESULTS: The group consisted of 3 (33.3% males and 6 (66.6% females, with age from 29 to 74 years. All patients complained of pain in their eyes, 7 (77.7% had teary eyes, 8 (88.8% patients had photophobia and 4 (44.4% had red eyes. The visual acuity in the preoperative was finger counting in 6 (66.6% of the patients, hand moving in 2 (22.2% of the patients and amaurosis in 1 (11.1% patient. After the procedure, there was a reepithelialization in all patients between the twelfth and the twenty-first postoperative day. The patients seemed to recover from pain and photophobia in the first week after the amniotic membrane transplantation and remained well until the end of follow-up. CONCLUSION: The amniotic membrane has the potential to restore corneal surface in patients with symptomatic bullous keratopathy, reducing very quickly pain in these patients. However, the number of studied patients is small, but this treatment is an alternative that has encouraged us, as well as other researchers, due to the excellent obtained result.

  3. A 14-year paraneoplastic rash: urticarial vasculitis and dermal binding bullous pemphigoid secondary to chronic lymphocytic leukaemia.

    Science.gov (United States)

    Kassim, J M; Igali, L; Levell, N J

    2015-06-01

    A 72-year-old woman with a 14-year history of urticarial vasculitis (UV) and a 13-year history of bullous pemphigoid (BP) presented with associated progressive chronic lymphocytic leukaemia (CLL). Both skin conditions responded poorly to treatment, until chemotherapy for CLL was commenced. The skin features showed a clear paraneoplastic course, resolving with chemotherapy and recurring when the CLL relapsed and the lymphocyte count rose above 5 × 10(9)/L. No case of UV secondary to CLL, and very few cases of BP related to CLL have been reported, and no paraneoplastic rash of any type lasting 14 years has been reported previously. © 2014 British Association of Dermatologists, North American Clinical Dermatologic Society and St Johns Dermatological Society.

  4. Epidermolysis bullosa acquisita: current diagnosis and therapy

    Directory of Open Access Journals (Sweden)

    Christine R. Mehren

    2011-11-01

    Full Text Available Epidermolysis bullosa acquisita (EBA is an acquired, autoimmune subepidermal blistering disease with an approximate prevalence of 0,2/million people. The hallmark of EBA is the presence of autoantibodies (mainly IgG class to anchoring fibril collagen (type VII collagen located at the dermal-epidermal junction. Clinically EBA is subdivided into the inflammatory and the non-inflammatory phenotypes, depending on the level of the cleavage in the basal membrane. A recent addition to the diagnostic techniques is the analysis of the serration pattern of the autoantibody deposits at the basal membrane in the direct immunofluorescence. EBA and the closely related bullous systemic lupus erythematosus are the only diseases presenting with the so-called u-serration pattern which distinguishes them from many other autoimmune subepidermal blistering diseases. We also discuss the recent advances in therapy, including the experience with Rituximab.

  5. Modern diagnosis of autoimmune blistering skin diseases.

    Science.gov (United States)

    Schmidt, Enno; Zillikens, Detlef

    2010-12-01

    The diagnostic gold standard of autoimmune bullous diseases is the detection of autoantibodies in skin or mucous membranes by direct immunofluorescence microscopy of a perilesional biopsy. The molecular characterisation of several target antigens within the last 10 years has, however, fostered the development of sensitive and specific diagnostic tools that allow the serological diagnosis in about 90% of patients. Based on the recombinant immunodominant portions of the target antigens, ELISA systems are commercially available for the detection of circulating antibodies against desmoglein 1, desmoglein 3, envoplakin, BP180, and BP230. Autoantibodies against the soluble ectodomain of BP180 (LAD-1), laminin 332, type VII collagen, and most recently, laminin γ1 can be detected by Western blotting with recombinant or cell-derived forms of these proteins. The definite differentiation between the various immunobullous disorders that comprise about a dozen entities is increasingly important since more diverse treatment options are employed. Exact diagnosis is also pivotal for the prognosis, since some autoimmune bullous diseases may indicate an underlying tumor. Association with a malignancy has been shown in paraneoplastic pemphigus (in 100%) and anti-laminin 332 mucous pemphigoid (in 25%) In pemphigus vulgaris, pemphigus foliaceus, and bullous pemphigoid, autoantibodies to desmoglein 3, desmoglein 1, and BP180, respectively, have been shown to correlate with the disease activity. The detection of serum autoantibodies during the course of the disease may thus be helpful in guiding treatment decisions in these patients. Copyright © 2010 Elsevier B.V. All rights reserved.

  6. Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction

    Directory of Open Access Journals (Sweden)

    Tao Wang

    2015-09-01

    Full Text Available Non-bullous congenital ichthyosiform erythroderma (NBCIE is a hereditary disorder of keratinization caused by pathogenic variants in genes encoding enzymes important to lipid processing and terminal keratinocyte differentiation. Impaired function of these enzymes can cause pathologic epidermal scaling, significantly reduced skin barrier function. In this study, we have performed a focused, genetic analysis of a probrand affected by NBCIE and extended this to his consanguineous parents. Targeted capture and next-generation sequencing was performed on NBCIE associated genes in the proband and his unaffected consanguineous parents. We identified a homozygous nonsense variant c.814C>T (p.Arg272* in ALOXE3 (NM_001165960.1 in the proband and discovered that his parents are both heterozygous carriers of the variant. The clinical manifestations of the proband’s skin were consistent with NBCIE, and detailed histopathological assessment revealed epidermal bulla formation and Majocchi’s granuloma. Infection with Trichophyton rubrum was confirmed by culture. The patient responded to oral terbinafine antifungal treatment. Decreased skin barrier function, such as that caused by hereditary disorders of keratinization, can increase the risk of severe cutaneous fungal infections and the formation of Majocchi’s granuloma and associated alopecia. Patients with NBCIE should be alerted to the possible predisposition for developing dermatophytoses and warrant close clinical follow-up.

  7. The use of typing methods and infection prevention measures to control a bullous impetigo outbreak on a neonatal ward

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    Koningstein Maike

    2012-11-01

    Full Text Available Abstract Background We describe an outbreak of Bullous Impetigo (BI, caused by a (methicillin susceptible, fusidic acid resistant Staphylococcus aureus (SA strain, spa-type t408, at the neonatal and gynaecology ward of the Jeroen Bosch hospital in the Netherlands, from March-November 2011. Methods We performed an outbreak investigation with revision of the hygienic protocols, MSSA colonization surveillance and environmental sampling for MSSA including detailed typing of SA isolates. Spa typing was performed to discriminate between the SA isolates. In addition, Raman-typing was performed on all t408 isolates. Results Nineteen cases of BI were confirmed by SA positive cultures. A cluster of nine neonates and three health care workers (HCW with SA t408 was detected. These strains were MecA-, PVL-, Exfoliative Toxin (ETA-, ETB+, ETAD-, fusidic acid-resistant and methicillin susceptible. Eight out of nine neonates and two out of three HCW t408 strains yielded a similar Raman type. Positive t408 HCW were treated and infection control procedures were reinforced. These measures stopped the outbreak. Conclusions We conclude that treatment of patients and HCW carrying a predominant SA t408, and re-implementing and emphasising hygienic measures were effective to control the outbreak of SA t408 among neonates.

  8. Activation of Blood Coagulation in Two Prototypic Autoimmune Skin Diseases: A Possible Link with Thrombotic Risk.

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    Massimo Cugno

    Full Text Available Coagulation activation has been demonstrated in two prototypic autoimmune skin diseases, chronic autoimmune urticaria and bullous pemphigoid, but only the latter is associated with increased thrombotic risk. Two markers of coagulation activation (prothrombin fragment F1+2 and fibrin fragment D-dimer were measured by immunoenzymatic methods in plasma samples from 30 patients with active chronic autoimmune urticaria, positive for autologous serum skin test, 30 patients with active bullous pemphigoid and 30 healthy subjects. In skin biopsies, tissue factor expression was evaluated by both immunohistochemistry and in situ hybridization. F1+2 and D-dimer levels were higher in active chronic autoimmune urticaria (276.5±89.8 pmol/L and 5.56±4.40 nmol/L, respectively than in controls (145.2±38.0 pmol/L and 1.06±0.25 nmol/L; P=0.029 and P=0.011 and were much higher in active bullous pemphigoid (691.7±318.7 pmol/L and 15.24±9.09 nmol/L, respectively (P<0.0001. Tissue factor positivity was evident in skin biopsies of both disorders with higher intensity in bullous pemphigoid. F1+2 and D-dimer, during remission, were markedly reduced in both disorders. These findings support the involvement of coagulation activation in the pathophysiology of both diseases. The strong systemic activation of coagulation in bullous pemphigoid may contribute to increase the thrombotic risk and provides the rationale for clinical trials on anticoagulant treatments in this disease.

  9. Use of the frozen section 'jelly-roll' technique to aid in the diagnosis of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis).

    Science.gov (United States)

    Galler, Blake; Bowen, Casey; Arnold, Jason; Kobayashi, Todd; Dalton, Scott R

    2016-05-01

    Frozen section is a valuable tool that is often underutilized in the setting of in-patient dermatology. Traditionally, frozen section has been used in dermatology to diagnose toxic epidermal necrolysis, with some additional utility in staphylococcal scalded skin syndrome in the new born period. We report a newborn female with ruptured bullae on the face, chest, back and extremities with a clinical differential diagnosis that included staphylococcal scalded skin, bullous congenital ichthyosiform erythroderma/epidermolytic hyperkeratosis and epidermolysis bullosa. A thin detached skin sample ('jelly-roll') taken from a ruptured bulla on the abdomen was prepared for frozen section analysis. Characteristic findings of epidermolytic hyperkeratosis were seen which included hyperkeratosis with granular layer degeneration, vacuolization and eosinophilic globules. The 'jelly-roll' technique can be used for quick diagnosis with minimal trauma to the patient. Epidermolytic hyperkeratosis was subsequently confirmed by a biopsy fixed in formalin and by genetic testing. A novel missense mutation in KRT1 (I479N) was identified. Herein, we discuss the use of the frozen section 'jelly roll' technique for rapid diagnosis in a case of bullous congenital ichthyosis erythroderma/epidermolytic hyperkeratosis. Published 2016. This article is a U.S. Government work and is in the public domain in the USA.

  10. Anti-collagen XVII single-chain Fv antibody blocks the autoimmune reaction mediated by pathogenic autoantibodies in bullous pemphigoid.

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    Wu, Yan; Sun, Na-Na; Dang, Er-Le; Jin, Liang; Liu, Zhen-Feng; Zhang, Wei; Yang, Lu-Ting; Wang, Gang

    2013-10-01

    Pathogenic autoantibodies in bullous pemphigoid (BP) recognize the non-collagenous 16A domain (NC16A) of collagen XVII (COL17), a hemidesmosomal component at the skin membrane. This immune inflammation involves activation of the complement cascade via the classical pathway. With similar antigen binding activity, Fab and single-chain variable fragments (scFv) of pathogenic anti-COL17 antibodies can interfere with COL17 binding of autoantibodies, blocking subsequent complement activation and granulocyte activation. To characterize the biological functions of human anti-COL17 scFv antibody. We constructed scFv antibodies against the corresponding antigen from parental Fab by expression in Escherichia coli. IgG autoantibodies against COL17 were purified by affinity chromatography from serum of BP patients. The inhibitory effects of anti-COL17 scFv on binding of BP autoantibodies to the NC16A domain of human COL17 antigen were observed by inhibition ELISA, immunofluorescence, and inhibition of complement activation. Reactive oxygen production assay and BP cryosection model were performed to assess the inhibitory effect of scFv on granulocyte activation and then the dermal-epidermal separation. ELISA and Western blot showed specific binding of scFv to COL17. We found that anti-COL17 scFv can inhibit the binding of intact IgG purified from BP parents to the corresponding COL17 antigen and then subsequent C1q and C3 activation and granulocyte activation in vitro. Most importantly, we confirmed that recombinant scFv can inhibit BP-IgG induced dermal-epidermal separation by BP cryosection model. The anti-COL17 scFv antibody can inhibit the binding of BP-IgG autoantibodies to COL17, thereby affecting subsequent complement activation and granulocyte activation in vitro. Our results suggest that blocking pathogenic epitopes using engineered scFv is an efficient BP therapy. Copyright © 2013 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. All

  11. Disease severity scoring systems in dermatology

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    Cemal Bilaç

    2016-06-01

    Full Text Available Scoring systems have been developed to interpret the disease severity objectively by evaluating the parameters of the disease. Body surface area, visual analogue scale, and physician global assessment are the most frequently used scoring systems for evaluating the clinical severity of the dermatological diseases. Apart from these scoring systems, many specific scoring systems for many dermatological diseases, including acne (acne vulgaris, acne scars, alopecia (androgenetic alopecia, tractional alopecia, bullous diseases (autoimmune bullous diseases, toxic epidermal necrolysis, dermatitis (atopic dermatitis, contact dermatitis, dyshidrotic eczema, hidradenitis suppurativa, hirsutismus, connective tissue diseases (dermatomyositis, skin involvement of systemic lupus erythematosus (LE, discoid LE, scleroderma, lichen planoplaris, mastocytosis, melanocytic lesions, melasma, onychomycosis, oral lichen planus, pityriasis rosea, psoriasis (psoriasis vulgaris, psoriatic arthritis, nail psoriasis, sarcoidosis, urticaria, and vitiligo, have also been developed. Disease severity scoring methods are ever more extensively used in the field of dermatology for clinical practice to form an opinion about the prognosis by determining the disease severity; to decide on the most suitable treatment modality for the patient; to evaluate the efficacy of the applied medication; and to compare the efficiency of different treatment methods in clinical studies.

  12. Bullous Impetigo in Children Infected with Methicillin-Resistant Staphylococcus aureus Alone or in Combination with Methicillin-Susceptible S. aureus: Analysis of Genetic Characteristics, Including Assessment of Exfoliative Toxin Gene Carriage▿

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    Shi, Da; Higuchi, Wataru; Takano, Tomomi; Saito, Kohei; Ozaki, Kyoko; Takano, Misao; Nitahara, Yoshiyuki; Yamamoto, Tatsuo

    2011-01-01

    Among bullous impetigo isolates, exfoliative toxin (ET) gene carriage was found in 61.5% of methicillin-resistant Staphylococcus aureus (MRSA) isolates versus 90.6% of methicillin-susceptible S. aureus (MSSA) isolates. MRSA-only cases were ETB or ETA positive, while MRSA/MSSA coinfection cases were ET negative for MRSA but ETA positive for MSSA. Collagen adhesin may facilitate some MRSA infections. PMID:21430094

  13. Efeito terapêutico do "cross-linking" corneano na ceratopatia bolhosa sintomática Therapeutic effect of corneal cross-linking on symptomatic bullous keratophaty

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    Diego Nery Benevides Gadelha

    2009-08-01

    Full Text Available OBJETIVO: Avaliar o efeito do "cross-linking" corneano na ceratopatia bolhosa sintomática e seu impacto na acuidade visual, espessura corneana e sintomatologia dolorosa. MÉTODOS: Doze pacientes com ceratopatia bolhosa sintomática foram incluídos. Exame clínico com questionário específico para a pesquisa com escala de dor (escala visual analógica numérica, acuidade visual e mensuração da espessura corneana foi realizada pré "cross-linking" corneano, 7, 30 e 60 dias após. Em todos os pacientes o tratamento com UVA-crosslinking foi realizado após abrasão do epitélio corneano na lâmpada de fenda e instilação de solução de riboflavina 0,1% a cada 5 minutos por 30 minutos. Após esse período o paciente foi submetido à exposição à luz ultravioleta A (UVA, utilizando riboflavina e anestesia tópica a cada 5 minutos por 30 minutos. O paciente utilizou colírios de ofloxacina 0,3% e lágrima artificial até completa reepitelização. O teste de Friedman foi usado para comparar as médias das frequências da acuidade visual, sintomatologia dolorosa e espessura central da córnea. Os valores de "p" menor que 0,05 foram considerados como estatisticamente significantes. RESULTADOS: Doze olhos de 12 pacientes com erosões epiteliais recorrentes foram tratados. O tempo de seguimento foi de dois meses. Foi observada redução significante da dor (pPURPOSE: To evaluate the corneal cross-linking (CXL effect on symptomatic bullous keratopathy, and its impact on the visual acuity, corneal thickness and pain symptomatology. METHODS: Twelve patients with symptomatic bullous keratophaty were included. A clinical examination with a specific questionnaire (pain scale - visual numeric analog scale, visual acuity, and corneal thickness measures was performed before corneal cross-linking and 7, 30 and 60 days after the procedure. In all patients, the treatment with the UVA-crosslinking was done after corneal abrasion on the slit-lamp and

  14. Micropuntura com radiofrequência no tratamento da ceratopatia bolhosa sintomática Micropuncture with radiofrequency for the treatment of symptomatic bullous keratopathy

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    José Ricardo Carvalho Lima Rehder

    2010-06-01

    Full Text Available OBJETIVO: Avaliar o efeito da micropuntura com radiofrequência no tratamento dos pacientes portadores de ceratopatia bolhosa sintomática. MÉTODOS: Estudo prospectivo em 10 pacientes com ceratopatia bolhosa sintomática e baixa acuidade visual. Micropunturas com radiofrequência foram realizadas em estroma anterior nas áreas com descompensação epitelial. A evolução dos pacientes foi realizada através de dados clínicos (biomicroscopia, paquimetria, tonometria e estesiometria e graduação de sintomas (intensidade da dor, sensação de corpo estranho, fotofobia e insônia devido à dor. RESULTADOS: A comparação dos sintomas antes do tratamento e no pós-operatório apresentou redução da sensação de corpo estranho, da intensidade da dor e na insônia em mais de 90% dos pacientes. A medida da sensibilidade corneana pelo estesiômetro de Cocher Bonnet apresentou uma redução da sensibilidade, entre o pré tratamento e o pós de 1 semana, entre 0,5 a 2, em 5 pacientes . A comparação do pré-tratamento com o pós-tardio apresentou aumento na sensibilidade corneana em 07 pacientes variando de 0,5 a 2. A avaliação de espessura corneana através do exame de paquimetria ultra- sônica e a medida de pressão intraocular dos pacientes através do tonômetro de aplanação de Goldman não obtiveram diferenças significativas. CONCLUSÃO: A micropuntura com radiofrequência mostrou-se um tratamento válido no controle dos sintomas da ceratopatia bolhosa principalmente na redução de sintomas como dor e sensação de corpo estranho.PURPOSE: Evaluate the effect of micro puncture with radiofrequency as treatment of symptomatic patients with bullous keratopathy. METHODS: Prospective study in 10 pacients with syntomatic bullous keratopathy and low vision. Micro puncture with radiofrequency was made in areas of the anterior stromal that had an epithelial descompensation. The evaluation of the patients was realized trough clinical examinations

  15. Disease: H00734 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00734 Lamellar ichthyosis (LI) and Non-bullous congenital ichthyosiform erythroder...ma (NBCIE) Autosomal recessive congenital ichthyoses comprise a heterogeneous group of skin disorders of hyp...erkeratosis. Two non-syndromic forms are defined including lamellar ichthyosis (LI) and non-bullous congenital...OXE3 [HSA:59344] ICHYN [HSA:348938] CYP4F22 [HSA:126410] [KO:K17731] Bullous congenital ichthyosiform erythr...(description, gene) Akiyama M Harlequin ichthyosis and other autosomal recessive congenital

  16. Outbreak of bullous impetigo caused by Staphylococcus aureus strains of phage type 3C/71 in a maternity ward linked to nasal carriage of a healthcare worker.

    Science.gov (United States)

    Piechowicz, Lidia; Garbacz, Katarzyna; Budzyńska, Anna; Dąbrowska-Szponar, Maria

    2012-01-01

    We describe an outbreak of bullous impetigo (BI) that occurred in a maternity unit and show phenotypic and genotypic properties and relatedness of isolated Staphylococcus aureus strains. Clinical material was obtained from 11 affected neonates. Additionally, nasal swabs from 67 healthy care workers (HCWs) as well as 107 environmental swabs were investigated. All isolates were screened for exfoliative toxin genes (eta, etb), antibiotic susceptibility and phage typed. Chromosomal DNA was genotyped by MLVF method and PCR/RFLP of coagulase gene were tested. Affected neonates were infected by two clusters of eta-positive S. aureus of phage type 3C/71: (1) MLVF type A isolates resistant only to penicillin, and (2) MLVF type B isolates resistant to penicillin and erythromycin/clindamycin. All isolates were susceptible to methicillin. We found 19 of 67 HCWs to be S. aureus nasal carriers. Two nasal isolates from HCWs were related to the outbreak on the basis of phage typing, PCR detection of eta/etb genes, antibiotyping and genotyping. Additionally, environmental swabs from the maternity unit revealed a 3C/71 S. aureus in the mattress of a baby bed. This is the first documented case of an outbreak of BI caused by phage type 3C/71 eta-positive strain of S. aureus.

  17. Epidermolysis bullosa acquisita in a 17-year-old boy with Crohn's disease.

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    Russo, Irene; Ferrazzi, Anna; Zanetti, Irene; Alaibac, Mauro

    2015-07-10

    Epidermolysis bullosa acquisita is a rare, acquired, autoimmune subepidermal blistering disease of the skin, characterised by blisters and erosions, especially in trauma-prone sites and extensor skin surface, scarring with formation of milia, skin fragility and nail dystrophy. Epidermolysis bullosa acquisita is extremely rare in childhood and it has been reported to be frequently associated with Crohn's disease. Furthermore, autoantibodies against type VII collagen have been found in a large number of patients with Crohn's disease without epidermolysis bullosa acquisita. We report a case of a 17-year-old boy affected by Crohn's disease who presented with milia on infiltrated erythematous plaques over the back of the hands. The diagnosis of epidermolysis bullosa acquisita was confirmed by histopathology, direct and indirect immunofluorescence analysis and ELISA. 2015 BMJ Publishing Group Ltd.

  18. Eosinophils in Autoimmune Diseases

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    Daniela Čiháková

    2017-04-01

    Full Text Available Eosinophils are multifunctional granulocytes that contribute to initiation and modulation of inflammation. Their role in asthma and parasitic infections has long been recognized. Growing evidence now reveals a role for eosinophils in autoimmune diseases. In this review, we summarize the function of eosinophils in inflammatory bowel diseases, neuromyelitis optica, bullous pemphigoid, autoimmune myocarditis, primary biliary cirrhosis, eosinophilic granulomatosis with polyangiitis, and other autoimmune diseases. Clinical studies, eosinophil-targeted therapies, and experimental models have contributed to our understanding of the regulation and function of eosinophils in these diseases. By examining the role of eosinophils in autoimmune diseases of different organs, we can identify common pathogenic mechanisms. These include degranulation of cytotoxic granule proteins, induction of antibody-dependent cell-mediated cytotoxicity, release of proteases degrading extracellular matrix, immune modulation through cytokines, antigen presentation, and prothrombotic functions. The association of eosinophilic diseases with autoimmune diseases is also examined, showing a possible increase in autoimmune diseases in patients with eosinophilic esophagitis, hypereosinophilic syndrome, and non-allergic asthma. Finally, we summarize key future research needs.

  19. Eosinophils in Autoimmune Diseases.

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    Diny, Nicola L; Rose, Noel R; Čiháková, Daniela

    2017-01-01

    Eosinophils are multifunctional granulocytes that contribute to initiation and modulation of inflammation. Their role in asthma and parasitic infections has long been recognized. Growing evidence now reveals a role for eosinophils in autoimmune diseases. In this review, we summarize the function of eosinophils in inflammatory bowel diseases, neuromyelitis optica, bullous pemphigoid, autoimmune myocarditis, primary biliary cirrhosis, eosinophilic granulomatosis with polyangiitis, and other autoimmune diseases. Clinical studies, eosinophil-targeted therapies, and experimental models have contributed to our understanding of the regulation and function of eosinophils in these diseases. By examining the role of eosinophils in autoimmune diseases of different organs, we can identify common pathogenic mechanisms. These include degranulation of cytotoxic granule proteins, induction of antibody-dependent cell-mediated cytotoxicity, release of proteases degrading extracellular matrix, immune modulation through cytokines, antigen presentation, and prothrombotic functions. The association of eosinophilic diseases with autoimmune diseases is also examined, showing a possible increase in autoimmune diseases in patients with eosinophilic esophagitis, hypereosinophilic syndrome, and non-allergic asthma. Finally, we summarize key future research needs.

  20. Changes of human skin in subepidermal wound healing process.

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    Sugata, Keiichi; Kitahara, Takashi; Takema, Yoshinori

    2008-11-01

    The wound healing process involves unexplained mechanisms. An aberration in this process is known to cause dermal disorders such as keloid or hypertrophic scars, but the mechanism by which these scars are formed remains to be elucidated. Here we examined the usefulness of a non-invasive optical imaging device to clarify mechanisms of wound healing and of scar formation. An 8 mm experimental wound was made in the forearms of six subjects by a suction blister method. To observe chronological changes associated with wound healing, horizontal cross-sectional images were non-invasively obtained of the wounded area from the skin surface down to 129 microm below at 21.5 microm intervals using in vivo laser confocal scanning microscopy (LCSM). The wounds were covered with a new epidermis by week 2, at which time the dermal papilla count decreased while the thickness from the skin surface to the apex of the dermal papilla increased. The count and the thickness returned to the initial levels when the wound was healed. In two out of six subjects, fibrous tissues were observed in the upper dermis, whereas in one other subject, melanocyte-like dendritic cells were observed in the epidermis-dermis border in later phases of wound healing. This non-invasive method using in vivo LCSM revealed chronological changes in the dermis and epidermis during wound healing. In addition, although a scar was not formed in any of study subjects, this microscopy revealed aspects similar to the fibrous tissue overgrowth or to melanocyte migration, both of which may relate to wound healing. These results indicate the usefulness of this non-invasive method in studies of wound healing and of scar formation.

  1. Serological Diagnosis of Autoimmune Blistering Diseases

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    Birgül Özkesici

    2016-03-01

    Full Text Available Autoimmune blistering diseases are a rare diseases, characterized by development of autoantibodies against the structural proteins of the epidermis or dermoepidermal junction, and blisters and erosions on skin and/or mucous membranes clinically. Clinical features are important guiding findings for suspicious of this group of diseases. The diagnosis is achieved by the evaluation together of clinical features, histological and immunological findings. The gold standard in the diagnosis of this group diseases are demonstration of tissue bound and/or circulating autoantibodies. Methods for this purpose are; direct and indirect immunofluorescence, Enzyme Linked Immunosorbent Assay (ELISA, immunoprecipitation and immunoblotting. The aim of this paper is to review serological diagnostic methods in the diagnosis of autoimmune bullous diseases and to present developments in recent years.

  2. ROULEAUX AND AUTOAGGLUTINATION OF ERYTHROCYTES ASSOCIATED WITH FIBRIN-LIKE MATERIAL IN SKIN BIOPSIES FORM PATIENTS WITH AUTOIMMUNE BLISTERING DISEASES

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    Ana Maria Abreu Velez

    2013-11-01

    Full Text Available Introduction: Autoimmune bullous skin diseases (ABDs represent a heterogeneous group of disorders of the skin and mucosa; these disorders are commonly associated with deposits of immunoglobulins, complement, and fibrinogen, usually directed against distinct adhesion molecules. Methods: We utilized hematoxylin and eosin (H & E stained tissues sections to evaluate for the presence of rouleaux in lesional skin biopsies of patients affected by ABDs including patients with endemic and nonendemic pemphigus foliaceus, bullous pemphigoid (BP, pemphigus vulgaris (PV, dermatitis herpetiformis (DH, and a group of controls taken from routine biopsies seen in our practice. Results: Most autoimmune bullous skin diseases biopsies showed rouleaux formation within and around post-capillary venules in the superficial vascular plexus in association with a pinkish brush-like material that resembles fibrin or other amorphous eosinophilic material. Discussion: We document that rouleaux and the pinkish aggregates are present in within biopsies taken from lesional skin in the majority of patients with ABDs and speculate that this maybe as result of the exocytosis of inflammatory cells, antibodies that form when exposed to the extracellular matrix which is already edematous in most ABDs. In addition red blood cells in the presence of plasma proteins or other macromolecules may form aggregates. Further studies are needed.

  3. Basement membrane antibodies in sera of haematopoietic cell recipients are associated with graft-versus-host disease.

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    Hofmann, S C; Kopp, G; Gall, C; Bruckner-Tuderman, L; Bertz, H

    2010-05-01

    Graft-versus-host disease (GvHD) occurs frequently after haematopoietic cell transplantation (HCT). Mucocutaneous lesions of GvHD may mimic bullous autoimmune dermatoses, and 10 cases of concurrent GvHD and a bullous autoimmune disease have been reported in the literature. To determine the frequency of circulating antibodies to the cutaneous basement membrane zone (BMZ) in HCT patients with GvHD in comparison with HCT patients without GvHD, psoriasis patients and healthy controls. We examined 42 patients with chronic GvHD, 18 HCT patients without GvHD, 11 psoriasis patients and 40 healthy controls, prospectively. Sera were tested by indirect immunofluorescence (IIF) on salt-split skin, NC16a-ELISA and immunoblot using keratinocyte extracts. Univariate statistical analyses and logistic regression were performed to assess possible correlations of graft and patient characteristics with the presence of BMZ antibodies. Circulating basement membrane zone (BMZ) antibodies were detected in 10/42 (24%) GvHD sera by immunoblot, but not in any of the HCT sera from patients without GvHD (0/18; 0%). The antibodies targeted collagen VII, BP230, collagen XVII/BP180 or p200/laminin gamma1. Clinically manifest bullous autoimmune dermatoses (bullous pemphigoid or epidermolysis bullosa acquisita) were found in two GvHD patients. 1/11 (9%) psoriasis sera and 1/40 (2.4%) healthy control sera reacted with collagen XVII or BP230, respectively. Circulating BMZ antibodies are significantly associated with chronic GvHD in contrast to uncomplicated HCT. Recurrent mucocutaneous lesions in chronic inflammatory skin disorders may liberate antigens, which may lead to production of BMZ antibodies, particularly in the context of GvHD-mediated reduced self-tolerance.

  4. A randomised controlled trial to compare the safety, effectiveness and cost-effectiveness of doxycycline (200 mg/day) with that of oral prednisolone (0.5 mg/kg/day) for initial treatment of bullous pemphigoid: the Bullous Pemphigoid Steroids and Tetracyclines (BLISTER) trial.

    Science.gov (United States)

    Chalmers, Joanne R; Wojnarowska, Fenella; Kirtschig, Gudula; Mason, James; Childs, Margaret; Whitham, Diane; Harman, Karen; Chapman, Anna; Walton, Shernaz; Schmidt, Enno; Godec, Thomas R; Nunn, Andrew J; Williams, Hywel C

    2017-03-01

    Bullous pemphigoid (BP) is an autoimmune blistering skin disorder with increased morbidity and mortality in the elderly. To evaluate the effectiveness, safety and cost-effectiveness of a strategy of initiating BP treatment with oral doxycycline or oral prednisolone. We hypothesised that starting treatment with doxycycline gives acceptable short-term blister control while conferring long-term safety advantages over starting treatment with oral prednisolone. Pragmatic multicentre two-armed parallel-group randomised controlled trial with an economic evaluation. A total of 54 dermatology secondary care centres in the UK and seven in Germany. Adults with BP [three or more blisters at two sites and positive direct and/or indirect immunofluorescence (immunoglobulin G and/or complement component 3 immunofluorescence at the dermal-epidermal junction)] and able to give informed consent. Participants were allocated using online randomisation to initial doxycycline treatment (200 mg/day) or prednisolone (0.5 mg/kg/day). Up to 30 g/week of potent topical corticosteroids was permitted for weeks 1-3. After 6 weeks, clinicians could switch treatments or alter the prednisolone dose as per normal practice. Primary outcomes: (1) the proportion of participants with three or fewer blisters at 6 weeks (investigator blinded) and (2) the proportion with severe, life-threatening and fatal treatment-related events at 52 weeks. A regression model was used in the analysis adjusting for baseline disease severity, age and Karnofsky score, with missing data imputed. Secondary outcomes included the effectiveness of blister control after 6 weeks, relapses, related adverse events and quality of life. The economic evaluation involved bivariate regression of costs and quality-adjusted life-years (QALYs) from a NHS perspective. In total, 132 patients were randomised to doxycycline and 121 to prednisolone. The mean patient age was 77.7 years and baseline severity was as follows: mild 31.6% (three

  5. Electrocauterización de la membrana de Bowman para el tratamiento de la queratopatía bullosa dolorosa Electrocauterization of Bowman's membrane for the treatment of painful bullous keratopathy

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    Elizabeth Escalona Leyva

    2002-12-01

    Full Text Available El propósito en este trabajo es evaluar la electrocauterización de la membrana de Bowman como alternativa quirúrgica en el tratamiento de la queratopatía bullosa dolorosa. Se estudiaron 30 ojos de 30 pacientes con diagnóstico de queratopatía bullosa dolorosa que no habían logrado mejoría con los tratamientos habituales. Se tomaron como variables fundamentales la edad, el sexo, la etiología, el tiempo de evolución, la epitelización, las complicaciones y el alivio sintomático, los datos se tabularon de forma manual teniendo en cuenta el universo de pacientes. Predominó la queratopatía bullosa posquirúrgica (afáquicas y pseudofáquicas en el 83,3 % de los pacientes. Las edades más afectadas fueron los mayores de 60 años (63,3 %; no se encontraron diferencias significativas en cuanto al sexo. El tiempo de epitelización fue de 7 a 14 días en el 93,3 % de los pacientes y solo se encontraron complicaciones en el 14 % que no fueron de gravedad. El alivio de los síntomas se produjo en el 66,6 % en la primera semana del posoperatorio. La electrocauterización de la membrana de Bowman constituye un método eficaz, sencillo y con resultados satisfactorios en el tratamiento de la queratopatía bullosa dolorosaThe purpose of this paper is to evaluate the electrocauterization of Bowman's membrane as a surgical alternative in the treatment of painful bullous keratopathy. 30 eyes from 30 patients who were diagnosed painful bullous keratopathy and had not improved with the habitual treatments were studied. Age, sex, ethiology, time of evolution, epithelialization, complications and the symptomatic relief were taken as fundamental variables. Data were manually tabulated, taking into account the number of patients. The psotsurgical bullous keratopathy (aphakic y pseudophakic prevailed in 83.3 % of the patients. The most affected were those over 60 (63.3 %. No significant differences were found in relation to sex. The time of epithelialization

  6. [Thymoma and autoimmune diseases].

    Science.gov (United States)

    Jamilloux, Y; Frih, H; Bernard, C; Broussolle, C; Petiot, P; Girard, N; Sève, P

    2017-03-29

    The association between thymoma and autoimmunity is well known. Besides myasthenia gravis, which is found in 15 to 20% of patients with thymoma, other autoimmune diseases have been reported: erythroblastopenia, systemic lupus erythematosus, inflammatory myopathies, thyroid disorders, Isaac's syndrome or Good's syndrome. More anecdotally, Morvan's syndrome, limbic encephalitis, other autoimmune cytopenias, autoimmune hepatitis, and bullous skin diseases (pemphigus, lichen) have been reported. Autoimmune diseases occur most often before thymectomy, but they can be discovered at the time of surgery or later. Two situations require the systematic investigation of a thymoma: the occurrence of myasthenia gravis or autoimmune erythroblastopenia. Nevertheless, the late onset of systemic lupus erythematosus or the association of several autoimmune manifestations should lead to look for a thymoma. Neither the characteristics of the patients nor the pathological data can predict the occurrence of an autoimmune disease after thymectomy. Thus, thymectomy usefulness in the course of the autoimmune disease, except myasthenia gravis, has not been demonstrated. This seems to indicate the preponderant role of self-reactive T lymphocytes distributed in the peripheral immune system prior to surgery. Given the high infectious morbidity in patients with thymoma, immunoglobulin replacement therapy should be considered in patients with hypogammaglobulinemia who receive immunosuppressive therapy, even in the absence of prior infection. Copyright © 2017 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  7. Heat shock protein 90 inhibition: A potential double- or triple-edged sword in the treatment of mucous membrane pemphigoid.

    Science.gov (United States)

    Kasperkiewicz, Michael; Płatkowska, Anna; Zalewska, Anna; Zillikens, Detlef

    2015-10-01

    Mucous membrane pemphigoid (MMP) is a subtype of autoimmune subepidermal blistering diseases characterized by autoantibodies to structural components of the hemidesmosome primarily affecting mucous membranes. Inflammation-related progressive scarring can lead to serious complications, including blindness, and the disease may be associated with malignancy. Conventional immunosuppressive treatment is often insufficiently effective and limited due to side effects, warranting new therapeutic options ideally targeting both inflammation and extensively recalcitrant cicatrization. Heat shock protein 90 (Hsp90) is a cell stress-inducible chaperone required for the function of a large number of client proteins, and its pharmacological inhibition has proven to be effective and relatively safe in patients with cancer. Recent observations also suggest a promising role of Hsp90 as drug target in preclinical in vivo murine models of autoimmune diseases such as subepidermal bullous and fibrotic autoimmune disorders comprising epidermolysis bullosa acquisita and systemic sclerosis, respectively, which exhibit some pathophysiological features reminiscent of MMP. This article thus hypothesizes that Hsp90 blockade could represent a double-edged sword in MMP treatment by targeting pathogenic factors of inflammatory blister and fibrosis formation. Moreover, Hsp90 inhibitors could even be proclaimed as a triple-edged sword in case of an underlying malignancy. Future studies investigating the role of Hsp90 in MMP are needed to clarify whether Hsp90 inhibition could become a novel treatment approach for patients with this potentially devastating disease. Copyright © 2015 Elsevier Ltd. All rights reserved.

  8. IgA-mediated epidermolysis bullosa acquisita : Two cases and review of the literature

    NARCIS (Netherlands)

    Vodegel, RM; de Jong, MCJM; Pas, HH; Jonkman, MF

    2002-01-01

    We describe 2 adult patients with a subepidermal bullous dermatosis with exclusively linear IgA depositions along the epidermal basement membrane zone that were deposited in the sublamina densa zone as witnessed by direct immunoelectron microscopy. Indirect immunofluorescence microscopy of patients'

  9. Coexistence of acquired hemophilia A and epidermolysis bullosa acquisita: Two case reports and published work review.

    Science.gov (United States)

    Yan, Tian-Meng; He, Chun-Xia; Hua, Bao-Lai; Li, Li; Jin, Hong-Zhong; Liu, Yue-Hua; Zuo, Ya-Gang

    2017-01-01

    Epidermolysis bullosa acquisita (EBA) is a rare chronic subepidermal bullous autoimmune disease. The occurrence of acquired hemophilia A (AHA) is low and so the coexistence of EBA and AHA is extremely rare. We herein described a case of EBA coexisting with AHA and a case of EBA coexisting with AHA and hepatitis B. These EBA may be related to the pathogenesis of AHA. In this study, we analyzed the clinical features in the two Chinese cases of EBA coexisting with AHA, and found esophageal hemorrhage and hematemesis were the main symptoms of both patients. Cyclosporin, prednisone and lamivudine effectively control EBA with AHA and hepatitis B. The dose of cyclosporin should be more than 4 mg/kg per day and the period of treatment should be longer than 5 months to reduce the risk of EBA co-occurring with AHA. © 2016 Japanese Dermatological Association.

  10. Serum levels of anti-type VII collagen antibodies detected by enzyme-linked immunosorbent assay in patients with epidermolysis bullosa acquisita are correlated with the severity of skin lesions.

    Science.gov (United States)

    Kim, J H; Kim, Y H; Kim, S; Noh, E B; Kim, S-E; Vorobyev, A; Schmidt, E; Zillikens, D; Kim, S-C

    2013-02-01

    Epidermolysis bullosa acquisita (EBA) is a chronic autoimmune subepidermal bullous disease characterized by circulating autoantibodies against type VII collagen. Detecting these autoantibodies is crucial for the diagnosis of this disease, and is also useful for measuring disease activity. Enzyme-linked immunosorbent assay (ELISA), a quantitative method to measure anti-type VII collagen antibody levels, is currently available to diagnose EBA. The aim of this study was to investigate the relationship of ELISA with overall clinical severity. Sera from patients with EBA (n = 30), bullous pemphigoid (n = 20), anti-laminin γ1 pemphigoid (n = 9) and healthy donors (n = 24) were tested using ELISA, using the recombinant non-collagenous 1 (NC1) and 2 (NC2) domains of type VII collagen. Relationships between clinical characteristics, indirect immunofluoroscence (IIF) titres and ELISA values were investigated. The sensitivity and specificity of the EBA ELISA were 96.7% and 98.1%, respectively. There was no significant difference between ELISA results for classic and inflammatory types. The severity of skin involvement was positively correlated with both ELISA value (r = 0.87, P ELISA values reflect disease activity better than IIF titres. Type VII collagen ELISA using the NC1 and NC2 domains is useful for diagnosing EBA and monitoring disease severity. © 2012 The Authors. Journal of the European Academy of Dermatology and Venereology © 2012 European Academy of Dermatology and Venereology.

  11. Outcomes in bullous retinal detachment

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    Sarah P. Read

    2017-06-01

    Conclusions and importance: GRTs are an uncommon cause of retinal detachment. While pars plana vitrectomy with tamponade is standard in GRT management, there is variability in the use of scleral buckling and PFO in these cases. This is in contrast to retinal dialysis where scleral buckle alone can yield favorable results. Though a baseball ocular trauma is common, retinal involvement is rare compared to other sports injuries such as those occurring with tennis, soccer and golf. Sports trauma remains an important cause of retinal injury and patients should be counseled on the need for eye protection.

  12. Long-term results of rituximab-intravenous immunoglobulin combination therapy in patients with epidermolysis bullosa acquisita resistant to conventional therapy.

    Science.gov (United States)

    Oktem, Ayse; Akay, Bengu Nisa; Boyvat, Ayse; Kundakci, Nihal; Erdem, Cengizhan; Bostancı, Seher; Sanli, Hatice; Kocyigit, Pelin

    2017-02-01

    Epidermolysis bullosa acquisita (EBA) is a rare subepidermal bullous disease. Long-term remission in this disease is difficult using current treatments, unlike that in patients with other autoimmune bullous diseases. We retrospectively evaluated the effectiveness and side effects of rituximab-intravenous immunoglobulin (IVIg) combination treatment in five patients with EBA resistant to conventional treatment. Rituximab (375 mg/m2) was administered for four consecutive weeks to four patients, and their treatment continued with IVIg at a dose of 2 g/kg/month. One patient received two cycles of rituximab for three consecutive weeks, IVIg in the fourth week, followed by monthly IVIg administrations as in the other patients. The total number of IVIg therapy cycles ranged from 10 to 26 (mean 19.4). Mean skin involvement, mucosal involvement, and disease severity scores decreased after a mean follow-up of 22.6 months (range, 10-28 months). In an analysis performed during months 24-28, the number of CD19-positive B cells was found to be below the normal reference range in four patients. This was a retrospective study with a limited number of patients. Rituximab-IVIg combination treatment seems to be effective and safe for treating patients with EBA resistant to conventional treatments.

  13. DISEASES

    DEFF Research Database (Denmark)

    Pletscher-Frankild, Sune; Pallejà, Albert; Tsafou, Kalliopi

    2015-01-01

    Text mining is a flexible technology that can be applied to numerous different tasks in biology and medicine. We present a system for extracting disease-gene associations from biomedical abstracts. The system consists of a highly efficient dictionary-based tagger for named entity recognition...... of human genes and diseases, which we combine with a scoring scheme that takes into account co-occurrences both within and between sentences. We show that this approach is able to extract half of all manually curated associations with a false positive rate of only 0.16%. Nonetheless, text mining should...... not stand alone, but be combined with other types of evidence. For this reason, we have developed the DISEASES resource, which integrates the results from text mining with manually curated disease-gene associations, cancer mutation data, and genome-wide association studies from existing databases...

  14. [Epidermolysis bullosa acquisita].

    Science.gov (United States)

    Caux, Frédéric

    2010-10-01

    Epidermolysis bullosa acquisita (EBA) is a rare autoimmune subepidermal bullous disease with autoimmunity to the type VII collagen which is the major component of anchoring fibrils. Clinical manifestations of the classical EBA include skin fragility, blisters over the trauma-prone surfaces and milium cysts. Other presentations of EBA have been reported: mucosal predominant appearance reminiscent of cicatricial pemphigoid, bullous pemphigoid-like presentation and IgA-EBA. Making a definitive diagnosis of EBA could be difficult because specialized tests available in only some laboratories are necessary to confirm the clinical suspicion: immunoelectron microscopy demonstrating immune deposits on anchoring fibrils and immunoblotting or enzyme-linked immunosorbent assay (Elisa) detecting autoantibodies recognizing the type VII collagen. EBA frequently is associated with Crohn's disease and an inflammatory bowel disease must be ruled out in patients with EBA and abdominal manifestations. EBA potentially is serious, has usually a chronical evolution and is difficult to treat.There are no guidelines for treatment of EBA, which is adapted to clinical severity and include dapsone, cyclosporine and rituximab. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

  15. disease

    African Journals Online (AJOL)

    Objective. To undertake an economic evaluation of the administration and monitoring costs of the two different forms of heparin in patients with unstable coronary artery disease (DCAD). Study design. Equivalent efficacy was found for low- molecular-weight heparin (LMWH) and for unfraction- ated heparin (UFH) in the ...

  16. Sensitivity of direct immunofluorescence in oral diseases. Study of 125 cases.

    Science.gov (United States)

    Sano, Susana Mariela; Quarracino, María Cecilia; Aguas, Silvia Cristina; González, Ernestina Jesús; Harada, Laura; Krupitzki, Hugo; Mordoh, Ana

    2008-05-01

    Direct immunofluorescence (DIF) is widely used for the diagnosis of bullous diseases and other autoimmune pathologies such as oral lichen planus. There is no evidence in the literature on how the following variants influence the detection rate of DIF: intraoral site chosen for the biopsy, perilesional locus or distant site from the clinical lesion, number of biopsies and instrument used. to determine if the following variants influenced the sensitivity (detection rate): intraoral site chosen for the biopsy, perilesional or distant site from the clinical lesion, number of biopsies and instrument used (punch or scalpel). A retrospective study was done at the Cátedra de Patología y Clínica Bucodental II at the Facultad de Odontología, Universidad de Buenos Aires; 136 clinical medical histories were revised for the period March 2000 - March 2005 corresponding to patients with clinical diagnosis of OLP and bullous diseases (vulgar pemphigus, bullous pemphigoid and cicatricial pemphigoid). DIF detection rate was 65.8% in patients with OLP, 66.7% in cicatricial pemphigoid patients, in bullous pemphigoid 55.6%, in pemphigus vulgaris 100%, and in those cases in which certain diagnosis could not be obtained, the DIF positivity rate was 45.5% (Pearson chi(2) (4)= 21.5398 Pr= 0.000). There was no statistically significant difference between the different sites of biopsy (Fisher exact test: 0.825). DIF detection rate in perilesional biopsies was 66.1% and in those distant from the site of clinical lesion was 64.7% (Pearson chi(2) v1)= 0.0073 Pr= 0.932. When the number of biopsies were incremented, DIF detection rate also incremented (Pearson chi(2) = 8.7247 Pr= 0.003). The biopsies taken with punch had a higher detection rate than those taken with scalpel (39.1% versus 71.7%) (Pearson chi(2) = 49.0522 Pr= 0.000). While not statistically significant, the tendency outlined in this study indicates there are intraoral regions in which the detection rate of the DIF technique is

  17. Anti-p200 pemphigoid responding to dapsone

    Directory of Open Access Journals (Sweden)

    Laura Van Lerberghe

    2014-03-01

    Full Text Available Anti-p200 pemphigoid is a rare autoimmune subepidermal blistering disease. Clinical presentation is similar to standard bullous pemphigoid (BP but mucous membranes and cephalic lesions are more frequent. Histology and direct immunofluorescence (IF are identical to BP but indirect IF discloses linear deposits of immunoglobulin G (IgG on the dermal side of artificial salt-split skin. Specific diagnosis is based on western immunoblotting that shows circulating IgG recognizing a 200-kDa protein localized on the dermal extract. The 200-kDa antigen was recently identified as laminin γ1. Anti-p200 pemphigoid should be considered before all atypical or topical steroid-resistant bullous disease, as well as mucous membranes pemphigoid or epidermolysis bullosa acquisita. Dapsone appears to be the most effective treatment and should be used as the first option in combination with topical steroids. In this report, we describe the case of a patient with a typical clinical and immunopathological anti-p200 pemphigoid, responding to a combination of topical steroids and dapsone.

  18. Autoimmune diseases of oral cavity

    Directory of Open Access Journals (Sweden)

    Davide B. Gissi

    2011-04-01

    Full Text Available Most diseases of oral mucosa are either autoimmune in nature or are the results of immunologically-mediated events. These include Recurrent Aphthous Stomatitis (RAS, Erythema Multiforme (EM, the bullous diseases Pemphigus Vulgaris (PV and Mucous Membrane Pemphigoid (MMP and Lichen Planus (LP. These conditions are characterised by lesions of the oral mucosa often associated with extra-oral manifestations that include skin, eyes, nasal and pharyngeal mucosa as well as genitals. Despite a similar pathogenesis, they are characterised by different immunologic processes that involve T-cell mediated hypersensitivity in LP, humoral-mediated immunity to cadherin intercellular adhesion molecules in PV, antibody-mediated processes giving rise to junctional separation in MMP, and other not yet completely understood processes in RAS and EM. Differences are also present in the clinical outcome, that is always acute and auto-limiting in EM, auto-limiting and often recurrent in RAS, sub-acute and often recurrent in MMP and PV and always chronic in LP. Accurate diagnosis is not always possible solely on the basis of the oral presentation, and histological and often immunofluorescence examinations are needed in order to establish a definitive diagnosis. The condition that brings together all these diseases is that thay all benefit from similar therapeutic approaches, consisting in local or systemic immunosuppressive treatments. This review provides guidance to differentiate and correctly diagnose these conditions and discusses the most appropriate management.

  19. Role of topical drugs in treatment of oral mucosal diseases. A literature review.

    Science.gov (United States)

    Sheikh, Soheyl; Gupta, Deepak; Pallagatti, Shambulingappa; Singla, Isha; Gupta, Rajesh; Goel, Varun

    2013-11-01

    Few topical formulations have been designed specifically to treat oral mucosal diseases. Local drug delivery may provide a more targeted and efficient option than systemic delivery for diseases of the oral mucosa. The permeability to the topical drugs differs according to the thickness of the epithelium and the extent of keratinization. The loss of the permeability barrier in the oral mucosa, due to ulceration or erosion, leads to rapid diffusion of the drug into tissues as compared to the intact areas of the mucosa. Oral mucosal delivery has the potential to treat many different conditions and diseases, such as oral cancer, mucositis, lichen planus, herpes simplex, candidiasis, recurrent aphthous stomatitis, vesiculo-bullous diseases, neuropathic pain and salivary dysfunction. Each therapy requires distinct penetration and drug retention profiles in order to optimize treatment and minimize side effects. In this paper, topical medications are discussed, as these are advantageous for the treatment of oral mucosal lesions with fewer side effects.

  20. Pemphigoid Vegetans in Childhood: A Case Report and Short Review of Literature

    Science.gov (United States)

    Khatib, Yasmeen; Makhija, Meena; Patel, Richa D; Karad, Gayatri

    2015-01-01

    Pemphigoid vegetans is a very rare type of bullous pemphigoid which usually affects the elderly and has not been reported in children. It shows a clinical resemblance to pemphigus vegetans but has distinct histological and immunopathological features of bullous pemphigoid. A 9-year-old girl presented with recurrent purulent and verrucous vegetating lesions on her forehead, groin and vulva along with scaling, crusted, bullous and purulent lesions on the eyelids, periorbital, periauricular, perioral region and lips. She had oral lesions and a cerebriform tongue. Though she showed clinical features of pemphigus vegetans, histology revealed a subepidermal blister with the absence of acantholysis. Direct immunofluorescence studies were suggestive of bullous pemphigoid. On clinicopathological correlation, a diagnosis of pemphigoid vegetans was made. She responded well to oral corticosteroids and dapsone therapy with complete resolution of the lesions. PMID:26288447

  1. Pemphigoid vegetans in childhood: A case report and short review of literature

    Directory of Open Access Journals (Sweden)

    Yasmeen Khatib

    2015-01-01

    Full Text Available Pemphigoid vegetans is a very rare type of bullous pemphigoid which usually affects the elderly and has not been reported in children. It shows a clinical resemblance to pemphigus vegetans but has distinct histological and immunopathological features of bullous pemphigoid. A 9-year-old girl presented with recurrent purulent and verrucous vegetating lesions on her forehead, groin and vulva along with scaling, crusted, bullous and purulent lesions on the eyelids, periorbital, periauricular, perioral region and lips. She had oral lesions and a cerebriform tongue. Though she showed clinical features of pemphigus vegetans, histology revealed a subepidermal blister with the absence of acantholysis. Direct immunofluorescence studies were suggestive of bullous pemphigoid. On clinicopathological correlation, a diagnosis of pemphigoid vegetans was made. She responded well to oral corticosteroids and dapsone therapy with complete resolution of the lesions.

  2. The mechanisms of action of nicotinamide and zinc in inflammatory skin disease.

    Science.gov (United States)

    Fivenson, David P

    2006-01-01

    Nicotinamide (niacinamide), a physiologically active form of niacin (nicotinic acid), in combination with zinc is being assessed in clinical studies for the treatment of inflammatory skin diseases such as acne vulgaris and bullous pemphigoid. The basis for these investigations is the variety of potential mechanisms of action of nicotinamide and zinc, including an anti-inflammatory effect via inhibition of leukocyte chemotaxis, lysosomal enzyme release, lymphocytic transformation, mast cell degranulation, bacteriostatic effect against Propionibacterium acnes, inhibition of vasoactive amines, preservation of intracellular coenzyme homeostasis, and decreased sebum production. Other possible mechanisms involve suppression of vascular permeability and inflammatory cell accumulation, as well as protection against DNA damage. The goal of this paper is to review the pathophysiology of inflammatory skin diseases and discuss the role, mechanisms of action, and safety of nicotinamide and zinc as therapeutic options for these disorders.

  3. Childhood Epidermolysis Bullosa Acquisita: Confirmation of Diagnosis by Skin Deficient in Type VII Collagen, Enzyme-linked Immunosorbent Assay, and Immunoblotting

    OpenAIRE

    Nupur Goyal; Raghavendra Rao; Balachandran, C.; Sathish Pai; Balbir S Bhogal; Enno Schmidt; Detlef Zillikens

    2016-01-01

    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 I...

  4. Erythema Marginatum as an Unusual Presentation for Kawasaki Disease

    Directory of Open Access Journals (Sweden)

    I. Sedighi

    2008-10-01

    Full Text Available Introduction: Kawasaki disease is an acute, systemic vacuity that predominantly manifests in infants and young children. Severe systemic inflammation and vacuities can cause cardiovascular involvement, particularly coronary artery injury that includes dilatation or aneurysm. The final goal of treatment for acute Kawasaki disease، therefore، is to diminish systemic inflammation and vacuities as soon as possible, thereby, preventing progression to coronary artery injury and thrombosis.Case Report: In this report we present a case of Kawasaki disease in a 7-year-old boy with prolonged fever and cervical adenopathy presented with erythema marginatum as a first skin presentation. We treated the patient with intravenous gamma-globulin (IVIG by six day after admission. He developed cardiac and pulmonary involvement two days later.Conclusion: Any skin rash is described in Kawasaki disease except for bullous and vesicular lesions. The common skin manifestation of Kawasaki disease are erythematous and maculopapular rash, although it may appear urticarial, scarlatiniform, erythema multiforme-like, or as erythroderma. Erythema marginatum had a limited differential diagnosis in pediatric patients. The major cause of erythema marginatum is rheumatic fever but there is no report of erythema marginatum in face and cervical region and Kawasaki disease should be considered in differential diagnosis of erythema marginatum in face and neck.

  5. Vimentin may reflect areas of pathologic involvement in biopsies from patients with autoimmune skin diseases

    Directory of Open Access Journals (Sweden)

    Ana Maria Abreu Velez

    2014-04-01

    Full Text Available Introduction: Autoimmune bullous skin diseases (ABDs represent a group of disorders of the skin and mucosa commonly associated with deposits of immunoglobulins, complement and fibrinogen, and usually directed against distinct adhesion molecules. After studing these diseases for many years, we noted alterations not only between the cells junctions of the epidermis and/or the dermal/epidermal junction, but also in dermal skin appendageal structures and in mesenchymal tissue around the blisters. Based on our findings, we wanted to determine if the observed patterns of autoimmunity correlated with cutaneous vimentin expression. Materials and Methods: Archival biopsies previously diagnosed with ABDs by clinical, hematoxylin and eosin (H&E and direct and/or immunofluorescence data were stained with antibodies directed against vimentin via immunohistochemistry (IHC. We tested 30 patients affected by endemic pemphigus, 30 controls from the endemic area, and 15 normal controls. We also tested 30 biopsies from patients with bullous pemphigoid (BP, 20 with pemphigus vulgaris (PV, 8 with pemphigus foliaceus, 14 with dermatitis herpetiformis (DH and 3 with Senear-Usher syndrome. Results: The H&E, DIF and vimentin patterns of positivity in the different ABDs confirmed that vimentin was compartmentalized around areas of dermal inflammation, around skin appendages and in epidermal, dermal and mesenchymal cell junction areas. Conclusion: Vimentin may be a useful tool for highlighting patterns of microenvironmental tissue alteration in multiple ABDs. The vimentin staining pattern observed was analogous to that we have previously described for proteases and protease inhibitors in patients affected by ABDs, expanding the concept that the autoimmune process extends beyond cell junctions.

  6. [Stevens-Johnson syndrome and Hodgkin's disease: A fortuitous association or paraneoplastic syndrome?].

    Science.gov (United States)

    Schoeffler, A; Levy, E; Weinborn, M; Cuny, J-F; Schmutz, J-L; Barbaud, A; Cribier, B; Bursztejn, A-C

    2014-02-01

    Hodgkin's disease has been associated with a variety of cutaneous symptoms. We report two cases of Stevens-Johnson syndrome (SJS) associated with Hodgkin's disease. Case 1: a 22-year-old man was hospitalized for a second erythematous vesicular eruption with intense mucosal involvement. Histopathological examination confirmed the diagnosis of Stevens-Johnson syndrome. He also developed enlarged cervical lymph nodes that revealed Hodgkin's disease. The latter diagnosis was followed by two recurrent rashes. Treatment consisted of systemic chemotherapy. Complete remission was obtained with no signs of cutaneous recurrence after 24 months of regular follow-up. Case 2: a 29-year-old man was admitted for a generalized erythematous and bullous rash with intense mucosal involvement. Histopathological examination confirmed the diagnosis of Stevens-Johnson syndrome. He then developed muco-cutaneous icterus that was secondary to Hodgkin's disease. Under specific hematologic treatment, no cutaneous relapse was noticed. These cases illustrate the rare association of SSJ revealing Hodgkin's disease. In these cases, no evidence was found of infectious disease or drug-induced cutaneous effects. Only one case of toxic epidermal necrolysis associated with Hodgkin's disease had previously been reported. The link between both diseases may be immunosuppression induced by Hodgkin's disease, which could favor infection inducing SJS or secretion by tumor cells granulysin, a mediator responsible for damage to keratinocytes. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  7. Immune deposits in cutaneous lesions of Wegener′s granulomatosis: Predictor of an active disease

    Directory of Open Access Journals (Sweden)

    Seema Chhabra

    2011-01-01

    Full Text Available A retrospective analysis was conducted of eight cases of Wegener′s granulomatosis (WG, who presented with cutaneous lesions. The clinical, immunopathologic and histopathologic features of the cutaneous lesions were reviewed. Antineutrophil cytoplasmic antibody (ANCA status of the patients was established. When possible, a comparison of immunofluorescence findings of skin biopsies was made with those of renal biopsies taken at the same time. In all except one, systemic and cutaneous disease developed concurrently. On histopathology, leukocytoclastic vasculitis was noted in five patients and features of lupus erythematosus and pyoderma gangrenosum in one case each. Four patients showed immunoglobulin deposits in subepidermal blood vessel walls, while one patient showed granular immune deposits at dermo-epidermal junction only. Immunoglobulin G was the most common immunoreactant detected. C-ANCA/proteinase 3 (PR3-ANCA was positive in six patients, P-ANCA/myeloperoxidase (MPO-ANCA in one patient, while one patient did not show ANCA positivity on indirect immunofluorescence. All four renal biopsies showed pauci-immune glomerulonephritis, irrespective of the presence (n=3 or absence (n=1 of immune deposits in the skin biopsy. Skin manifestations are encountered in nearly half of the patients with WG, thus it is important to be familiar with cutaneous histopathologic as well as immunofluorescence findings in WG patients.

  8. Dermatose por IgA linear induzida pela gestação Linear IgA dermatosis induced by pregnancy

    Directory of Open Access Journals (Sweden)

    Telma Kanagusuko

    2008-02-01

    Full Text Available A dermatose por IgA linear é doença bolhosa auto-imune subepidérmica rara, caracterizada pelo depósito linear de IgA na zona da membrana basal da epiderme. Nos relatos de gestação em pacientes com essa dermatose, nota-se sempre melhora do quadro clínico. Contrariando essas observações,é apresentado caso de dermatose por IgA linear induzida pela gestação, que demonstrou boa resposta terapêutica à dapsona e prednisona , sem complicações materno-fetais.Linear IgA disease is a rare autoimmune subepidermal bullous disorder characterized by linear IgA deposits at the epidermal basement membrane zone. According to the literature, in patients who have linear IgA disease and become pregnant, the disease tends to improve. We report a case of linear IgA disease induced by pregnancy, successfully treated with dapsone and prednisone with no adverse effects observed in the patient and her newborns.

  9. Mast cells are important modifiers of autoimmune disease: With so much evidence, why is there controversy?

    Directory of Open Access Journals (Sweden)

    Melissa Ann Brown

    2012-06-01

    Full Text Available There is abundant evidence that mast cells are active participants in events that mediate tissue damage in autoimmune disease. Disease-associated increases in mast cell numbers accompanied by mast cell degranulation and elaboration of numerous mast cell mediators at sites of inflammation are commonly observed in many human autoimmune diseases including multiple sclerosis, rheumatoid arthritis and bullous pemphigoid. In animal models, treatment with mast cell stabilizing drugs or mast cell ablation can result in diminished disease. A variety of receptors including those engaged by antibody, complement, pathogens and intrinsic danger signals are implicated in mast cell activation in disease. Similar to their role as first responders in infection settings, mast cells likely orchestrate early recruitment of immune cells, including neutrophils, to the sites of autoimmune destruction. This co-localization promotes cellular crosstalk and activation and results in the amplification of the local inflammatory response thereby promoting and sustaining tissue damage. Despite the evidence, there is still a debate regarding the relative role of mast cells in these processes. However, by definition, mast cells can only act as accessory cells to the self-reactive T and/or antibody driven autoimmune responses. Thus, when evaluating mast cell involvement using existing and somewhat imperfect animal models of disease, their importance is sometimes obscured. However, these potent immune cells are undoubtedly major contributors to autoimmunity and should be considered as important targets for therapeutic disease intervention.

  10. Flame figures associated with eosinophilic dermatosis of hematologic malignancy: is it possible to distinguish the condition from eosinophilic cellulitis in patients with hematoproliferative disease?

    Science.gov (United States)

    Qiao, Jianjun; Sun, Chang-E; Zhu, Weifang; Zhu, Dingxian; Fang, Hong

    2013-01-01

    Eosinophilic dermatosis of hematologic malignancy is a multifaceted dermatosis with a wide morphological spectrum, presenting as pruritic, erythematous, papular and occasionally vesicular, urticarial, nodular eruptions. Histopathologically eosinophil infiltration in the super and deep dermis was found. We reported a case of eosinophilic dermatosis of hematologic malignancy presented as urticarial and vesicular lesions in a patient with chronic lymphocytic leukemia. A skin biopsy revealed a prominent subepidermal blister and a diffuse infiltrate of eosinophils with flame figures in the dermis and subcutaneous tissue. Although flame figures associated with eosinophilic dermatosis of hematologic malignancy is rarely reported, we believe that it would not seem unusual to find them in this skin disease. Eosinophilic cellulitis, which share clinical and histological features with eosinophilic dermatosis of hematologic malignancy, has also been described as showing an association with hematoproliferative diseases. In order to clearly describe eosinophilic dermatosis in patients with hematologic malignancies, the terminology eosinophilic dermatosis of hematologic malignancy, instead of eosinophilic cellulitis, would be a more suitable term in patients with eosinophilic dermatosis.

  11. Prevalence of collagen VII-specific autoantibodies in patients with autoimmune and inflammatory diseases.

    Science.gov (United States)

    Licarete, Emilia; Ganz, Susanne; Recknagel, Martin J; Di Zenzo, Giovanni; Hashimoto, Takashi; Hertl, Michael; Zambruno, Giovanna; Hundorfean, Gheorghe; Mudter, Jonas; Neurath, Markus F; Bruckner-Tuderman, Leena; Sitaru, Cassian

    2012-04-04

    Autoimmunity to collagen VII is typically associated with the skin blistering disease epidermolysis bullosa acquisita (EBA), but also occurs occasionally in patients with systemic lupus erythematosus or inflammatory bowel disease. The aim of our present study was to develop an accurate immunoassay for assessing the presence of autoantibodies against collagen VII in large cohorts of patients and healthy donors. Based on in silico antigenic analysis and previous wetlab epitope mapping data, we designed a chimeric collagen VII construct containing all collagen VII epitopes with higher antigenicity. ELISA was performed with sera from patients with EBA (n = 50), Crohn's disease (CD, n = 50), ulcerative colitis (UC, n = 50), bullous pemphigoid (BP, n = 76), and pemphigus vulgaris (PV, n = 42) and healthy donors (n = 245). By ELISA, the receiver operating characteristics analysis yielded an area under the curve of 0.98 (95% CI: 0.9638-1.005), allowing to set the cut-off at 0.32 OD at a calculated specificity of 98% and a sensitivity of 94%. Running the optimized test showed that serum IgG autoantibodies from 47 EBA (94%; 95% CI: 87.41%-100%), 2 CD (4%; 95% CI: 0%-9.43%), 8 UC (16%; 95% CI: 5.8%-26%), 2 BP (2.63%; 95% CI: 0%-6.23%), and 4 PV (9.52%; 95% CI: 0%-18.4%) patients as well as from 4 (1.63%; 95% CI: 0%-3.21%) healthy donors reacted with the chimeric protein. Further analysis revealed that in 34%, 37%, 16% and 100% of sera autoantibodies of IgG1, IgG2, IgG3, and IgG4 isotype, respectively, recognized the recombinant autoantigen. Using a chimeric protein, we developed a new sensitive and specific ELISA to detect collagen specific antibodies. Our results show a low prevalence of collagen VII-specific autoantibodies in inflammatory bowel disease, pemphigus and bullous pemphigoid. Furthermore, we show that the autoimmune response against collagen VII is dominated by IgG4 autoantibodies. The new immunoassay should prove a useful tool for clinical and translational

  12. Prevalence of collagen VII-specific autoantibodies in patients with autoimmune and inflammatory diseases

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    Licarete Emilia

    2012-04-01

    Full Text Available Abstract Background Autoimmunity to collagen VII is typically associated with the skin blistering disease epidermolysis bullosa acquisita (EBA, but also occurs occasionally in patients with systemic lupus erythematosus or inflammatory bowel disease. The aim of our present study was to develop an accurate immunoassay for assessing the presence of autoantibodies against collagen VII in large cohorts of patients and healthy donors. Methods Based on in silico antigenic analysis and previous wetlab epitope mapping data, we designed a chimeric collagen VII construct containing all collagen VII epitopes with higher antigenicity. ELISA was performed with sera from patients with EBA (n = 50, Crohn's disease (CD, n = 50, ulcerative colitis (UC, n = 50, bullous pemphigoid (BP, n = 76, and pemphigus vulgaris (PV, n = 42 and healthy donors (n = 245. Results By ELISA, the receiver operating characteristics analysis yielded an area under the curve of 0.98 (95% CI: 0.9638-1.005, allowing to set the cut-off at 0.32 OD at a calculated specificity of 98% and a sensitivity of 94%. Running the optimized test showed that serum IgG autoantibodies from 47 EBA (94%; 95% CI: 87.41%-100%, 2 CD (4%; 95% CI: 0%-9.43%, 8 UC (16%; 95% CI: 5.8%-26%, 2 BP (2.63%; 95% CI: 0%-6.23%, and 4 PV (9.52%; 95% CI: 0%-18.4% patients as well as from 4 (1.63%; 95% CI: 0%-3.21% healthy donors reacted with the chimeric protein. Further analysis revealed that in 34%, 37%, 16% and 100% of sera autoantibodies of IgG1, IgG2, IgG3, and IgG4 isotype, respectively, recognized the recombinant autoantigen. Conclusions Using a chimeric protein, we developed a new sensitive and specific ELISA to detect collagen specific antibodies. Our results show a low prevalence of collagen VII-specific autoantibodies in inflammatory bowel disease, pemphigus and bullous pemphigoid. Furthermore, we show that the autoimmune response against collagen VII is dominated by IgG4 autoantibodies. The new immunoassay should

  13. Steroid sparing regimens for management of oral immune-mediated diseases

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    Arti Agrawal

    2014-01-01

    Full Text Available Immune-mediated mucocutaneous disease may present oral symptoms as a first sign of the disease. The primary etiology could be the cellular and/or humoral immune responses directed against epithelial or connective tissue, in a chronic and recurrent pattern. Lichen planus, pemphigus vulgaris and bullous pemphigoid are the most frequent immunologically mediated mucocutaneous diseases. More often than not, patients present with complaints of blisters, oral ulcers, pain, burning sensation, and bleeding from the various oral sites. Steroids, whether topical or systemic, are the treatment of choice as they have both anti-inflammatory and immune-suppressant properties; however, challenges in the treatment of autoimmune diseases are the complexity of symptoms, the need to manage long-term medications for preserving organ function, and the long-term adverse effects of steroids. In such situations steroid sparing agents, such as, tacrolimus, dapsone, azathioprine, cyclosporine, and so on, may be helpful. Here an attempt is made to review various treatment regimens that could be used as alternatives to steroids for management of such diseases.

  14. Meeting Report of the Pathogenesis of Pemphigus and Pemphigoid Meeting in Munich, September 2016

    NARCIS (Netherlands)

    Schmidt, Enno; Spindler, Volker; Eming, Ruediger; Amagai, Masayuki; Antonicelli, Frank; Baines, John F.; Belheouane, Meriem; Bernard, Philippe; Borradori, Luca; Caproni, Marzia; Di Zenzo, Giovanni; Grando, Sergei; Harman, Karen; Jonkman, Marcel F.; Koga, Hiroshi; Ludwig, Ralf J.; Kowalczyk, Andrew P.; Mueller, Eliane J.; Nishie, Wataru; Pas, Hendri; Payne, Aimee S.; Sadik, Christian D.; Seppanen, Allan; Setterfield, Jane; Shimizu, Hiroshi; Sinha, Animesh A.; Sprecher, Eli; Sticherling, Michael; Ujiie, Hideyuki; Zillikens, Detlef; Hertl, Michael; Waschke, Jens

    Autoimmune blistering diseases are a heterogeneous group of about a dozen complex disorders that are characterized by intraepidermal (pemphigus) and subepidermal blistering (pemphigoid diseases and dermatitis herpetiformis). The Pathogenesis of Pemphigus and Pemphigoid Meeting, organized by the

  15. [Amniotic membrane transplantation in severe corneal epithelial diseases. Preliminary results].

    Science.gov (United States)

    Zito, E; Borderie, V; Touzeau, O; Bourcier, T; Allouch, C; Laroche, L

    2002-11-01

    To evaluate amniotic membrane transplantation (AMT) in severe corneal epithelial diseases. Amniotic membrane transplantation was performed in 14 eyes of 14 patients from four groups: A, five severe ocular burns; B, four cases of cicatricial keratoconjunctivitis; C, three persistent epithelial defects after penetrating keratoplasty; D, two cases of pseudophakic bullous keratopathy. Five patients underwent AMT alone; two patients underwent AMT combined with limbal transplantation; the other three patients had limbal transplantation performed before AMT. Eight patients required combined penetrating keratoplasty. Patients with corneal stable reepithelialization, no corneal neovascularization, and no recurrence of the initial pathology were considered successful. The mean follow-up was 7+/-3 months. All but three patients underwent corneal reepithelialization within 6 weeks of AMT, with a mean healing time of 31+/-23 days. The success rate was 75% at 6 months (Kaplan-Meier method). Three of four procedures in group B failed. In eight patients, visual acuity improved, in one it worsened, and in the last five patients it remained unchanged. Visual acuity increased by an average of 7+/-9 lines. AMT is a useful technique for ocular surface reconstruction, especially in association with limbal transplantation. It could also improve the prognosis of penetrating keratoplasty in patients with severe corneal conditions.

  16. Is Dental Implantation Indicated in Patients with Oral Mucosal Diseases

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    Kalogirou Eleni-Marina

    2017-07-01

    Full Text Available Background/Aim: Dental implants are a reliable treatment choice for rehabilitation of healthy patients as well as subjects with several systemic conditions. Patients with oral mucosal diseases often exhibit oral mucosal fragility and dryness, erosions, blisters, ulcers or microstomia that complicate the use of removable dentures and emphasize the need for dental implants. The aim of the current study is to review the pertinent literature regarding the dental implantation prospects for patients with oral mucosal diseases. Material and Method: The English literature was searched through PubMed and Google Scholar electronic databases with key words: dental implants, oral mucosal diseases, oral lichen planus (OLP, epidermolysis bullosa (EB, Sjögren’s syndrome (SS, cicatricial pemphigoid, bullous pemphigoid, pemphigus vulgaris, scleroderma/systemic sclerosis, lupus erythematosus, leukoplakia, oral potentially malignant disorders, oral premalignant lesions, oral cancer and oral squamous cell carcinoma (SCC. Results: Literature review revealed dental implantation in patients with OLP (14 articles, EB (11 articles, pemphigus vulgaris (1 article, SS (14 articles, systemic sclerosis (11 articles, systemic lupus erythematosus (3 articles and oral SCC development associated with leukoplakia (5 articles. No articles regarding dental implants in patients with pemphigoid or leukoplakia without SCC development were identified. Most articles were case-reports, while only a few retrospective, prospective or observational studies were identified. Conclusions: Dental implants represent an acceptable treatment option with a high success rate in patients with chronic mucocutaneous and autoimmune diseases with oral manifestations, such as OLP, SS, EB and systemic sclerosis. Patients with oral possibly malignant disorders should be closely monitored to rule out the development of periimplant malignancy. Further studies with long follow-up, clinical and radiographic

  17. A sudden paediatric death due to hand, foot and mouth disease: the importance of vigilance.

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    Rahimi, R; Omar, E; Tuan Soh, T S; Mohd Nawi, S F A; Md Noor, S

    2017-08-01

    Hand, foot and mouth disease (HFMD) is caused by enteroviruses such as Coxsackie virus A16 (CVA16) and Enterovirus 71 (EV71). The diagnostic hallmarks are oral ulcers and maculo-papular or vesicular rash on the hands and feet. Severe form of this disease can lead to death due to neurological and cardiopulmonary complications. This case report aims to describe a fatal case of HFMD with minimal oral and skin manifestations. A four-year-old girl was brought to a hospital after suddenly becoming unresponsive at home. She had a history of fever and lethargy for three days prior to her demise. The patient, and f ive other children in her neighbourhood had been diagnosed to have HFMD at a local health clinic; the other children had recovered without complications. Autopsy revealed a few punctate, sub-epidermal vesicles measuring 1 to 2 mm on the palm of her right hand and sole of the right foot, visible only with a magnifying glass. Internal examination revealed prominent nodularity at the oro- and hypopharynxes. The lungs were markedly congested and oedematous. Histopathology of the lung showed marked oedema and haemorrhage with mild pneumonic changes. Oedema with increase in macroglia and astrocytic proliferation were seen in the cerebral tissue, but no lymphocytic infiltration was evident. Enterovirus EV71 was detected by polymerase chain reaction in samples from the lung, cerebrospinal fluid and serum. The cause of death was given as HFMD complicated by pneumonia. Fatal HFMD may have minimal signs. A complete history, careful physical examination and relevant investigations lead to a diagnosis at post mortem examination. Awareness of the subtle signs and rapid deterioration associated with a fatal case of HFMD is a challenge to clinicians who encounter these cases.

  18. The role of interleukin 16 in the pathogenesis of selected skin diseases

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    Dorota Purzycka-Bohdan

    2014-03-01

    Full Text Available Interleukin-16 (IL-16 is a proinflammatory cytokine with a pleiotropic impact on cells of the immune system. Based on its biological properties including activation of CD4+ T cell migration and proliferation and also stimulation of proinflammatory cytokine synthesis, it could be postulated that IL-16 may play an important role in the pathogenesis of many diseases associated with immunological disturbances. Interleukin-16 acts as a chemoattractant not only for T CD4+ lymphocytes, but also for other cells, which have specific receptors on their surface. Moreover, IL-16 acts as a cell cycle regulator. This cytokine is produced by cells of the immune system, i.e. T CD4+ and T CD8+ lymphocytes, eosinophils, mast cells, dendritic cells and also fibroblasts and epithelial cells. The mechanism of action of IL-16 may suggest its significant role in the pathogenesis of skin disorders associated with an inflammatory reaction and infiltration composed of T CD4+ lymphocytes. Both this interleukin and anti-IL-16 antibodies may be useful in diagnosis and therapy of many skin diseases. Further detailed studies on the release of IL-16 and its biological functions are needed to reveal the role of this cytokine in the complex immunological process. The aim of this article is a current literature review of the relationship between IL-16 and the development of selected skin diseases: atopic dermatitis, systemic lupus erythematosus, bullous pemphigoid, cutaneous T-cell lymphomas and psoriasis.

  19. Skin disorders in Parkinson’s disease: potential biomarkers and risk factors

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    Ravn A

    2017-03-01

    Full Text Available Astrid-Helene Ravn, Jacob P Thyssen, Alexander Egeberg Department of Dermatology and Allergy, Herlev and Gentofte Hospital, University of Copenhagen, Hellerup, Denmark Abstract: Parkinson’s disease (PD is one of the most common neurodegenerative disorders, characterized by a symptom triad comprising resting tremor, rigidity, and akinesia. In addition, non-motor symptoms of PD are well recognized and often precede the overt motor manifestations. Cutaneous manifestations as markers of PD have long been discussed, and cumulative evidence shows an increased prevalence of certain dermatological disorders in PD. Seborrheic dermatitis is considered to occur as a premotor feature of PD referable to dysregulation of the autonomic nervous system. Also, an increased risk of melanoma has been observed in PD. Light hair color is a known risk factor for melanoma, and interestingly the risk of PD is found to be significantly higher in individuals with light hair color and particularly with red hair. Furthermore, several studies have reported a high prevalence of PD in patients with bullous pemphigoid. Moreover, a 2-fold increase in risk of new-onset PD has been observed in patients with rosacea. Besides the association between PD and various dermatological disorders, the skin may be useful in the diagnosis of PD. Early PD pathology is found not only in the brain but also in extra-neuronal tissues. Thus, the protein α-synuclein, which is genetically associated with PD, is present not only in the CNS but also in the skin. Hence, higher values of α-synuclein have been observed in the skin of patients with PD. Furthermore, an increased risk of PD has been found in the Cys/Cys genotype, which is associated with red hair color. In this review, we summarize the current evidence of the association between PD and dermatological disorders, the cutaneous adverse effects of neurological medications, and describe the potential of skin protein expression and

  20. Diagnosis and disease severity assessment of epidermolysis bullosa acquisita by ELISA for anti-type VII collagen autoantibodies: an Italian multicentre study.

    Science.gov (United States)

    Marzano, A V; Cozzani, E; Fanoni, D; De Pità, O; Vassallo, C; Berti, E; Parodi, A; Crosti, C; Cugno, M

    2013-01-01

    Epidermolysis bullosa acquisita (EBA) is a rare autoimmune mucocutaneous bullous disease caused by autoantibodies against type VII collagen, a component of anchoring fibrils that stabilizes dermoepidermal adherence. Type VII collagen is composed of a collagenous domain linked by the noncollagenous (NC)1 and NC2 domains.  To assess the repeatability, sensitivity and specificity of a recently developed enzyme-linked immunosorbent assay (ELISA) for detection of anti-type VII collagen autoantibodies, and to ascertain whether they may be a marker of disease activity in EBA. Using this ELISA, which was able to recognize autoantibodies against the NC1 and NC2 epitopes of type VII collagen, we tested 14 EBA sera, 30 healthy control sera and 113 disease control sera. In the EBA sera group, 12 out of the 14 samples were positive in ELISA, with autoantibody titres varying from 7·2 to 127·9UmL(-1) (cutoff value ELISA (n =14; r=0·965; P=0·0001). The intra- and interassay coefficients of variation of the ELISA method ranged from 6·3% to 18·3%.  This NC1+NC2 ELISA can be a practical assay for the diagnosis of EBA. The correlation between autoantibody titres and disease severity suggests its usefulness as a marker of disease activity in EBA However, this should be confirmed by studies on larger series of patients. © 2012 The Authors. BJD © 2012 British Association of Dermatologists.

  1. Broncho-pleural fistula with hydropneumothorax at CT: Diagnostic implications in mycobacterium avium complex lung disease with pleural involvement

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    Yoon, Hyun Jung; Chung, Myung Jin; Lee, Kyung Soo; Park, Hye Yun; Koh, Won Jung [Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of); Kim, Jung Soo [Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Inha University Hospital, Inha University School of Medicine, Incheon (Korea, Republic of)

    2016-04-15

    To determine the patho-mechanism of pleural effusion or hydropneumothorax in Mycobacterium avium complex (MAC) lung disease through the computed tomographic (CT) findings. We retrospectively collected data from 5 patients who had pleural fluid samples that were culture-positive for MAC between January 2001 and December 2013. The clinical findings were investigated and the radiological findings on chest CT were reviewed by 2 radiologists. The 5 patients were all male with a median age of 77 and all had underlying comorbid conditions. Pleural fluid analysis revealed a wide range of white blood cell counts (410-100690/µL). The causative microorganisms were determined as Mycobacterium avium and Mycobacterium intracellulare in 1 and 4 patients, respectively. Radiologically, the peripheral portion of the involved lung demonstrated fibro-bullous changes or cavitary lesions causing lung destruction, reflecting the chronic, insidious nature of MAC lung disease. All patients had broncho-pleural fistulas (BPFs) and pneumothorax was accompanied with pleural effusion. In patients with underlying MAC lung disease who present with pleural effusion, the presence of BPFs and pleural air on CT imaging are indicative that spread of MAC infection is the cause of the effusion.

  2. Combined therapeutic use of oral alitretinoin and narrowband ultraviolet-B therapy in the treatment of Hailey-Hailey disease

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    Kaitlin A. Vanderbeck

    2014-11-01

    Full Text Available Hailey-Hailey disease (HHD is a chronic familial bullous disease characterized by recurrent blisters and erosions typically at friction-prone areas of the body accompanied by acantholysis upon histologic examination. There are a number of therapies used in the management of HHD. Its symptoms have been effectively treated with antimicrobial therapies, corticosteroids and other agents such as cyclosporine and prednisone. However, such treatments are not always effective. Therefore, there is a need for new treatments for the management of HHD. In this report, a patient with long-standing HHD responsive only to high levels of prednisone is described. After the successful tapering and cessation of oral prednisone the patient began a new combination therapy of complementary doses of oral alitretinoin, and narrowband UVB therapy, which yielded a favorable response within 2-3 weeks. After 6 weeks, a mono-therapy of daily (30 mg oral alitretinoin was sufficient to maintain successful near-complete remission of the disease.

  3. Endocrine Diseases

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    ... to. Featured Topics Adrenal Insufficiency and Addison's Disease Pregnancy & Thyroid Disease Hypothyroidism (Underactive Thyroid) Hashimoto's Disease Hyperthyroidism (Overactive Thyroid) Graves' ...

  4. Dermatose por IgA e IgG linear: relato de caso com boa resposta terapêutica à dapsona e ao micofenolato mofetil Linear IgA/IgG bullous dermatosis: successful treatment with dapsone and mycophenolate mofetil

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    Leny Passos

    2011-08-01

    Full Text Available Relata-se o caso de paciente feminina, de 21 anos, com dermatose por IgA e IgG linear. Inicialmente, a resposta clínica foi favorável à dapsona. Após a interrupção desta medicação, por crise de anemia sintomática, precipitada por malária, houve piora da doença, apesar da utilização da prednisona e pulsoterapia com metilprednisolona. A reintrodução da dapsona, associada ao micofenolato mofetil, possibilitou o controle da enfermidadeA 21-year-old female presenting linear IgA and IgG disease initially responded well to dapsone therapy. However, the treatment with dapsone was withdrawn due to severe anemia induced by malaria, which led to worsening of the clinical picture. Although prednisone and methylprednisolone were tried, the patient responded only to the association of dapsone and mycophenolate mofetil

  5. CYCLO-OXYGENASE 2 IS PRESENT IN THE MAJORITY OF LESIONAL SKIN FROM PATIENTS WITH AUTOINMUNE BLISTERING DISEASES

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    Ana Maria Abreu Velez

    2013-10-01

    Full Text Available Introduction: The in situ immune response within skin biopsies from patients affected by autoimmune skin blistering diseases (ABDs is not well characterized. Aim: Based on the fact that the ABD immune response is considered an adaptive immune response, both an innate immune response and inflammation would be expected in these diseases. Our investigation investigates the presence of cyclo-oxygenase-2 (COX-2, since this enzyme is commonly involved in innate immune responses. Methods: We utilized immunohistochemistry (IHC to evaluate the presence of COX-2 in lesional skin biopsies of patients affected by ABDs. We tested 30 patients with endemic pemphigus foliaceus (EPF, 15 controls from the endemic area, and 15 biopsies from healthy controls from the USA. We also tested archival biopsies from patients with selected ABDs, including 20 patients with bullous pemphigoid, 20 with pemphigus vulgaris, 8 with pemphigus foliaceus and 12 with dermatitis herpetiformis. Results: Most ABD biopsies stained positive for COX-2 in the lesional blister and/or the dermal inflammatory infiltrate, accentuated in the upper neurovascular plexus. In BP and EPF, the COX-2 staining was also seen in the sweat glands. All controls were negative. Conclusions: We document that COX-2 is expressed in lesional skin of patients with ABDs.

  6. Heart Disease

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    ... type of heart disease you have. Symptoms of heart disease in your blood vessels (atherosclerotic disease) Cardiovascular disease ... can sometimes be found early with regular evaluations. Heart disease symptoms caused by abnormal heartbeats (heart arrhythmias) A ...

  7. Epidermolysis bullosa acquisita with moderately severe dysphagia due to esophageal strictures

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    Jenny Tu

    2011-01-01

    Full Text Available Epidermolysis bullosa acquisita (EBA is a chronic, autoimmune condition involving the skin and mucous membranes. Symptomatic mucosal involvement is rare, but can impact on quality of life, due to esophageal strictures and dysphagia. We report a case involving a 60-year-old male presenting with bullous skin lesions on areas of friction on his hands, feet and mouth. Milia were visible on some healed areas. Biopsy showed a subepidermal vesicle. Direct immunofluorescence showed intense linear junctional IgG and C3 at the dermo-epidermal junction. Serological tests also supported the diagnosis of EBA. Screening tests for underlying malignancies were negative. Despite treatment with systemic steroids, the patient developed increasing dysphagia, requiring further investigation with esophagoscopy and a barium swallow. Confirmation of extensive esophageal stricturing prompted adjustment of medications including an increase in systemic steroids and addition of azathioprine. Currently, the patient′s disease remains under control, with improvement in all his symptoms and return of anti-basement membrane antibody levels to normal, whilst he remains on azathioprine 150 mg daily and prednisolone 5 mg daily. This case highlights the fact that the treatment of a given patient with EBA depends on severity of disease and co-morbid symptoms. Newer immunoglobulin and biological therapies have shown promise in treatment resistant disease. Considering that long-term immunosuppressants or biologicals will be required, potential side effects of the drugs should be considered. If further deterioration occurs in this patient, cyclosporin A or intravenous immunoglobulin (IV Ig will be considered. Vigilance for associated co-morbidities, especially malignancies, should always be maintained.

  8. Development of a simple enzyme-linked immunosorbent assay for the detection of autoantibodies in anti-p200 pemphigoid.

    Science.gov (United States)

    Groth, S; Recke, A; Vafia, K; Ludwig, R J; Hashimoto, T; Zillikens, D; Schmidt, E

    2011-01-01

    Anti-p200 pemphigoid is a subepidermal blistering skin disease characterized by autoantibodies against a 200-kDa protein (p200) of the dermal-epidermal junction. The laminin γ1 chain has recently been identified as target antigen in this disease and the C-terminus was described as an immunodominant region of laminin γ1. Diagnosis of anti-p200 pemphigoid requires detection of serum IgG at the dermal side of 1 mol L(-1) salt-split skin by indirect immunofluorescence microscopy and labelling of a 200-kDa protein by Western blotting of dermal extract. However, preparation of dermal extract is not widely available, limiting the possibility of diagnosing this disease to a few laboratories. To develop a simple, sensitive and specific diagnostic tool for anti-p200 pemphigoid. Sera from patients with anti-p200 pemphigoid (n = 35), bullous pemphigoid (BP, n = 101), epidermolysis bullosa acquisita (EBA, n = 10), antilaminin 332 mucous membrane pemphigoid (MMP, n = 14), pemphigus vulgaris (PV, n = 51) and healthy volunteers (HV, n = 131) were tested by a novel enzyme-linked immunosorbent assay (ELISA) that employed a recombinant monomeric C-terminal fragment of human laminin γ1 (hLAMC1-cterm) expressed in Escherichia coli. Serum reactivity with hLAMC1-cterm was detected in sera from 24 of 35 (69%) patients with anti-p200 pemphigoid, two of 101 (2%) with BP, 0 of 10 with EBA, two of 14 (14%) with anti-laminin 332 MMP, 0 of 51 with PV, and 0 of 131 HV. This novel ELISA will facilitate the diagnosis of anti-p200 pemphigoid. © 2010 The Authors. BJD © 2010 British Association of Dermatologists 2010.

  9. Effectiveness and side effects of anti-CD20 therapy for autoantibody-mediated blistering skin diseases: A comprehensive survey of 71 consecutive patients from the Initial use to 2007

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    Jennifer D Peterson

    2008-11-01

    Full Text Available Jennifer D Peterson1, Lawrence S Chan2,3,41Department of Dermatology, Texas Tech University Health Sciences Center at Lubbock, Lubbock, TX, USA; 2Department of Dermatology; 3Department of Microbiology/Immunology, University of Illinois at Chicago, Chicago, IL, USA; 4Medicine Service, Jesse Brown VA Medical Center, Chicago, IL, USAAbstract: In order to examine the efficacy and side effects of the monoclonal antibody anti-CD20 (rituximab on autoimmune blistering skin diseases, we performed a comprehensive survey of 71 consecutive patients from initial use up to 2007, using the PubMed database. A heterogeneous group of patients, including 51 patients with pemphigus vulgaris, one with pemphigus vegetans, nine with pemphigus foliaceus, five with paraneoplastic pemphigus, four with epidermolysis bullosa acquisita, and one with both bullous pemphigoid and graft vs host disease was included in this survey. Overall the monoclonal antibody seems to be effective in that 69% of patients showed complete response, 25% of patients showed partial response, whereas 6% of patients showed progressive disease. Six deaths occurred in association with the treatment, with four of these deaths in patients with paraneoplastic pemphigus, a disease characteristically resistant to conventional medication and with a high mortality rate. Of note, 11 patients who received combined rituximab and intravenous immune globulin treatments had the best outcome: complete response without any serious side effects. Therefore further investigation on rituximab with controlled clinical trial is a worthy pursuit.Keywords: blistering diseases, skin, anti-CD20, pemphigus, epidermolysis bullosa acquisita

  10. Sensitive and specific assays for routine serological diagnosis of epidermolysis bullosa acquisita.

    Science.gov (United States)

    Komorowski, Lars; Müller, Ralf; Vorobyev, Artem; Probst, Christian; Recke, Andreas; Jonkman, Marcel F; Hashimoto, Takashi; Kim, Soo-Chan; Groves, Richard; Ludwig, Ralf J; Zillikens, Detlef; Stöcker, Winfried; Schmidt, Enno

    2013-03-01

    Epidermolysis bullosa acquisita (EBA) is a severe autoimmune subepidermal blistering disease characterized by autoantibodies against the N-terminal collagenous domain (NC1) of type VII collagen (Col VII). Development of reliable assays for the detection of anti-Col VII-NC1 antibodies. NC1 was expressed in human HEK293 cells and used as target antigen in an enzyme-linked immunosorbent assay (ELISA) and in an immunofluorescence assay (IFA). These two assays were probed in a large cohort of patients with EBA (n = 73), bullous pemphigoid (BP, n = 72), anti-p200 pemphigoid (n = 24), anti-laminin 332 mucous membrane pemphigoid (MMP, n = 15), pemphigus vulgaris (PV, n = 24), and healthy control subjects (n = 254). The cut-off for the ELISA was optimized for accuracy by receiver-operating characteristics (area under the curve [AUC] = 0.9952). IgG reactivity against NC1 was detected in 69 of 73 EBA (94.5%) and 5 control sera (2 healthy controls and 3 BP patients), resulting in a specificity of 98.7%. The IFA showed a sensitivity of 91.8% and specificity of 99.8%. Reproducibility of the ELISA was demonstrated by an intra-class correlation coefficient of 0.97. IgG subclass analyses by ELISA revealed IgG1, IgG2, IgG3, and IgG4 anti-NC1 reactivity in 83.6%, 85.3%, 37.7%, and 83.6% of EBA sera, respectively. The novel assays were not evaluated prospectively and their use in monitoring serum levels during the disease course was not tested. The two assays are highly specific and sensitive to diagnose EBA. Their diagnostic competence was demonstrated in a large cohort of well-characterized EBA sera. Copyright © 2012 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

  11. Serum autoantibodies against the dermal-epidermal junction in patients with chronic pruritic disorders, elderly individuals and blood donors prospectively recruited.

    Science.gov (United States)

    van Beek, N; Dohse, A; Riechert, F; Krull, V; Recke, A; Zillikens, D; Schmidt, E

    2014-04-01

    Bullous pemphigoid (BP) is a subepidermal blistering autoimmune disease characterized by autoantibodies against two structural proteins of the epidermal basal membrane zone (BMZ), BP180 (type XVII collagen) and BP230. Patients are usually old and suffer from severe pruritus. Advanced age and severe pruritus have been hypothesized as potential risk factors for the development of autoantibodies in BP. To prospectively determine anti-BMZ antibodies in sera from patients with advanced age and/or pruritus compared with regular blood donors. Sera from (i) patients with chronic pruritic skin disorders (PSD, n = 78; mean age 62 years), (ii) patients with noninflammatory skin disease aged ≥ 70 years (n = 93; mean age 78 years), and (iii) blood donors (n = 50; mean age 41 years) were included. A large panel of validated test systems used for routine diagnosis were employed comprising indirect immunofluorescence (IF) microscopy on monkey oesophagus and human salt-split skin, BP180 NC16A- and BP230-specific enzyme-linked immunosorbent assay (ELISA) systems, and immunoblotting with various substrates, including LAD-1 (the soluble ectodomain of BP180), BP180, BP230, laminin 332, p200 antigen, laminin γ1 and type VII collagen. No statistically significant difference was seen between the three study groups. The same result was obtained when data for IF microscopy, ELISA and immunoblotting were analysed separately. Neither advanced age nor chronic pruritus have been verified as risk factors for autoantibodies against the epidermal BMZ. © 2014 British Association of Dermatologists.

  12. A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Hohenvieh cattle.

    Directory of Open Access Journals (Sweden)

    Annie Menoud

    Full Text Available We identified a congenital mechanobullous skin disorder in six calves on a single farm of an endangered German cattle breed in 2010. The condition presented as a large loss of skin distal to the fetlocks and at the mucosa of the muzzle. All affected calves were euthanized on humane grounds due to the severity, extent and progression of the skin and oral lesions. Examination of skin samples under light microscopy revealed detachment of the epidermis from the dermis at the level of the dermo epidermal junction, leading to the diagnosis of a subepidermal bullous dermatosis such as epidermolysis bullosa. The pedigree was consistent with monogenic autosomal recessive inheritance. We localized the causative mutation to an 18 Mb interval on chromosome 22 by homozygosity mapping. The COL7A1 gene encoding collagen type VII alpha 1 is located within this interval and COL7A1 mutations have been shown to cause inherited dystrophic epidermolysis bullosa (DEB in humans. A SNP in the bovine COL7A1 exon 49 (c.4756C>T was perfectly associated with the observed disease. The homozygous mutant T/T genotype was exclusively present in affected calves and their parents were heterozygous C/T confirming the assumed recessive mode of inheritance. All known cases and genotyped carriers were related to a single cow, which is supposed to be the founder animal. The mutant T allele was absent in 63 animals from 24 cattle breeds. The identified mutation causes a premature stop codon which leads to a truncated protein representing a complete loss of COL7A1 function (p.R1586*. We thus have identified a candidate causative mutation for this genetic disease using only three cases to unravel its molecular basis. Selection against this mutation can now be used to eliminate the mutant allele from the Rotes Höhenvieh breed.

  13. Pneumococcal Disease

    Science.gov (United States)

    ... Pneumococcal disease is a very serious infection that causes pneumonia, meningitis, and bloodstream infection (sepsis). About one million ... when someone gets pneumococcal disease? Pneumococcal disease can cause pneumonia, meningitis, or bloodstream infection. People with pneumococcal disease ...

  14. Autoimmune Diseases

    Science.gov (United States)

    ... autoimmune diseases are rare, while others, such as Hashimoto's disease, affect many people. Who gets autoimmune diseases? ... often occur on both sides of the body. Hashimoto's (hah-shee-MOH-tohz) disease (underactive thyroid) A ...

  15. Behcet's Disease

    Science.gov (United States)

    ... are here: Home / Types of Vasculitis / Behcet’s Disease Behcet’s Disease First Description Who gets Behcet’s Disease (the “typical” ... for Behcet’s Disease is Behcet’s syndrome . Who gets Behcet’s Disease (the “typical” patient)? Behcet’s disease is most common ...

  16. Effectiveness and side effects of anti-CD20 therapy for autoantibody-mediated blistering skin diseases: A comprehensive survey of 71 consecutive patients from the Initial use to 2007

    Science.gov (United States)

    Peterson, Jennifer D; Chan, Lawrence S

    2009-01-01

    In order to examine the efficacy and side effects of the monoclonal antibody anti-CD20 (rituximab) on autoimmune blistering skin diseases, we performed a comprehensive survey of 71 consecutive patients from initial use up to 2007, using the PubMed database. A heterogeneous group of patients, including 51 patients with pemphigus vulgaris, one with pemphigus vegetans, nine with pemphigus foliaceus, five with paraneoplastic pemphigus, four with epidermolysis bullosa acquisita, and one with both bullous pemphigoid and graft vs host disease was included in this survey. Overall the monoclonal antibody seems to be effective in that 69% of patients showed complete response, 25% of patients showed partial response, whereas 6% of patients showed progressive disease. Six deaths occurred in association with the treatment, with four of these deaths in patients with paraneoplastic pemphigus, a disease characteristically resistant to conventional medication and with a high mortality rate. Of note, 11 patients who received combined rituximab and intravenous immune globulin treatments had the best outcome: complete response without any serious side effects. Therefore further investigation on rituximab with controlled clinical trial is a worthy pursuit. PMID:19436603

  17. Blindness from bilateral bullous retinal detachment: tragedy of a ...

    African Journals Online (AJOL)

    Objective: To present a scourge of blindness possibly due to an inherited condition causing retinal detachment in 3 siblings. Methods: In February 2004, three siblings from a monogamous family from Ipetu-Ijesha in Osun state, Nigerian presented to the author consecutively with history of visual impairment/ blindness.

  18. Valve Disease

    Science.gov (United States)

    ... See also on this site: Diseases of the Mitral Valve Diseases of the Aortic Valve Diseases of the Tricuspid ... most invasive option for the treatment of valve disease. During surgery, ... defects of the mitral valve. Replacement is used to treat any diseased ...

  19. In vitro and in vivo preliminary results on Spirulina platensis for ...

    African Journals Online (AJOL)

    user

    2013-05-01

    May 1, 2013 ... such as destroying normal gut and skin flora and producing gastrointestinal irritations, dermatitis or serious hypersensitivity problems. Thus, the test .... pressed state or other serious systemic disease. Inclusion criteria. All types of impetigo (primary or secondary, bullous or non bullous) and positive baseline ...

  20. Kawasaki Disease

    Science.gov (United States)

    Kawasaki disease is a rare childhood disease. It makes the walls of the blood vessels in the ... veins, and capillaries. No one knows what causes Kawasaki disease. Symptoms include High fever that lasts longer ...

  1. Whipple's Disease

    Science.gov (United States)

    ... way to prevent Whipple disease. Eating, Diet, and Nutrition A person with Whipple disease and malabsorption may need a diet high in calories and protein vitamins nutritional supplements People with Whipple disease should discuss their nutritional ...

  2. Celiac Disease

    Science.gov (United States)

    ... diabetes, rheumatoid arthritis, autoimmune thyroid or liver disease, Addison’s disease, or Sjogren’s syndrome.Have a genetic disorder such ... results will confirm that you have celiac disease. Diagnosis of dermatitis herpetiformis with a positive blood test ...

  3. Alzheimer's Disease

    Science.gov (United States)

    Alzheimer's disease (AD) is the most common form of dementia among older people. Dementia is a brain disorder that ... higher if a family member has had the disease. No treatment can stop the disease. However, some ...

  4. Huntington's Disease

    Science.gov (United States)

    Huntington's disease (HD) is an inherited disease that causes certain nerve cells in the brain to waste ... express emotions. If one of your parents has Huntington's disease, you have a 50 percent chance of ...

  5. Alzheimer Disease

    Science.gov (United States)

    ... CPR: A Real Lifesaver Kids Talk About: Coaches Alzheimer Disease KidsHealth > For Kids > Alzheimer Disease Print A A ... slow it down. When Someone You Love Has Alzheimer Disease You might feel sad or angry — or both — ...

  6. Moyamoya Disease

    Science.gov (United States)

    ... Page You are here Home » Disorders » All Disorders Moyamoya Disease Information Page Moyamoya Disease Information Page What research is being done? ... Definition Treatment Prognosis Clinical Trials ... Publications Definition Moyamoya disease is a rare, progressive cerebrovascular disorder caused ...

  7. Crohn's Disease

    Science.gov (United States)

    Crohn's disease causes inflammation of the digestive system. It is one of a group of diseases called inflammatory ... small intestine called the ileum. The cause of Crohn's disease is unknown. It may be due to an ...

  8. Wilson Disease

    Science.gov (United States)

    ... Liver Foundation March of Dimes National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) Wilson Disease Association See all related organizations Publications Order NINDS Publications Definition Wilson disease (WD) is a rare inherited disorder ...

  9. [Clinical and epidemiologic aspects of paraneoplastic dermatoses in hospitalized patients treated at the Clinic for Dermatologic and Venereal Diseases in Novi Sad over a 10-year period (1980-1990)].

    Science.gov (United States)

    Stojanović, S; Poljacki, M; Dimoski, A; Tasić, S

    1995-01-01

    Authors report results of a retrospective investigation on frequency of paraneoplastic dermatoses, their clinical characteristics, time of onset and course regarding 10 - year material on hospitalized patients at the Clinic for Infectious and Dermatovenerous Diseases in Novi Sad. Out of 9086 hospitalized patients in 14 patients (0.16%) paraneoplastic dermatisis was diagnosed. Out of 14 patients in 5 patients (35.71%) Herpes zoster was diagnosed; in 4 patients (28.57%) bullous dermatosis; in 2 patients (14.29%) paraneoplastic acrokeratosis; in 1 patient (7.14%) exudative multiform erythema in 1 patient (7.14%) erythema figuratum and in one more patient necrotic Herpes labialis was diagnosed. Concerning malignant neoplasms of internal organs together with paraneoplastic dermatosis in most cases (4 - 28.57%) chronic lymphocyte leucosis was found, and in remaining 10 (71.43%) carcinomas were diagnosed at different internal organs. In 7 cases (50%) malignancy proceeded paraneoplastic dermatosis, in 4 cases (28.57%) the malignancy was diagnosed at the same time as paraneoplastic dermatosis and in 3 cases (28.43%) malignancy was established after the onset of paraneoplastic dermatosis. Authors point to the fact that usual skin changes, characteristic for the dermatologic diseases mentioned, in cases when they are associated with visceral malignomas, are characterized by a more serious clinical picture, a longer course of the disease and resistance concerning usual therapy.

  10. Ribbing disease

    Directory of Open Access Journals (Sweden)

    Mukkada Philson

    2010-01-01

    Full Text Available Ribbing disease is a rare sclerosing dysplasia that involves long tubular bones, especially the tibia and femur. It occurs after puberty and is reported to be more common in women. In this article we describe how Ribbing disease can be differentiated from diseases like Engelmann-Camurati disease, van Buchem disease, Erdheim-Chester disease, osteoid osteoma, chronic osteomyelitis, stress fracture, etc.

  11. Reportable diseases

    Science.gov (United States)

    ... Listeriosis Lyme disease Malaria Measles Meningitis (meningococcal disease) Mumps Novel influenza A virus infections Pertussis Plague Poliomyelitis Poliovirus infection, nonparalytic Psittacosis ...

  12. Chronic inflammatory disorders and risk of type 2 diabetes mellitus, coronary heart disease, and stroke: a population-based cohort study.

    Science.gov (United States)

    Dregan, Alex; Charlton, Judith; Chowienczyk, Phil; Gulliford, Martin C

    2014-09-02

    This study sought to evaluate whether risks of diabetes mellitus and cardiovascular disease are elevated across a range of organ-specific and multisystem chronic inflammatory disorders. A matched cohort study was implemented in the UK Clinical Practice Research Datalink including participants with severe psoriasis (5648), mild psoriasis (85 232), bullous skin diseases (4284), ulcerative colitis (12 203), Crohn's disease (7628), inflammatory arthritis (27 358), systemic autoimmune disorders (7472), and systemic vasculitis (6283) and in 373 851 matched controls. The main outcome measures were new diagnoses of type 2 diabetes mellitus, stroke, or coronary heart disease. The outcomes were evaluated for each condition in a multiple outcomes model, with adjustment for conventional cardiovascular risk factors. Estimates for different inflammatory conditions were pooled in a random-effects meta-analysis. There were 4695 new diagnoses of type 2 diabetes mellitus, 3266 of coronary heart disease, and 1715 of stroke. The hazard ratio for pooled multiple failure estimate was 1.20 (95% confidence interval [CI], 1.15-1.26). The highest relative hazards were observed in systemic autoimmune disorders (1.32; 95% CI, 1.16-1.50) and systemic vasculitis (1.29; 95% CI, 1.16-1.44). Hazards were increased in organ-specific disorders, including severe psoriasis (1.29; 95% CI, 1.12-1.47) and ulcerative colitis (1.26; 95% CI, 1.14-1.40). Participants in the highest tertile of C-reactive protein had greater risk of multiple outcomes (1.52; 95% CI, 1.37-1.68). The risk of cardiovascular diseases and type 2 diabetes mellitus is increased across a range of organ-specific and multisystem chronic inflammatory disorders with evidence that risk is associated with severity of inflammation. Clinical management of patients with chronic inflammatory disorders should seek to reduce cardiovascular risk. © 2014 American Heart Association, Inc.

  13. Heart Diseases

    Science.gov (United States)

    ... you're like most people, you think that heart disease is a problem for others. But heart disease is the number one killer in the ... of disability. There are many different forms of heart disease. The most common cause of heart disease ...

  14. Evaluation of a low-cost design keratoprosthesis in end-stage corneal disease: a preliminary study.

    Science.gov (United States)

    Sharma, Namrata; Falera, Ruchita; Arora, Tarun; Agarwal, Tushar; Bandivadekar, Pooja; Vajpayee, Rasik B

    2016-03-01

    To evaluate the indications, outcomes and complications of Auro keratoprosthesis (a low-cost design based on type I Boston Keratoprosthesis) in the end-stage corneal disease in a preliminary study. In this prospective interventional study, 10 eyes of 10 patients with an end-stage corneal disease underwent implantation of Auro keratoprosthesis with the mean follow-up of 14.5±2.1 months. The indications included multiple failed grafts (n=7), aphakic bullous keratopathy (n=2) and chemical injury (n=1). The additional intraoperative procedures performed were synechiolysis (n=9), cataractous lens extraction (n=2), Ahmed glaucoma valve implantation (n=1) and vitreoretinal surgery (n=1). Antibiotic prophylaxis was administered postoperatively, and patients were followed up at 1 week, 2 weeks, 1 month and thereafter at monthly intervals. The main outcome measures were best corrected visual acuity (BCVA), retention of prosthesis, complications and need for secondary surgical interventions. The most common indication for keratoprosthesis implantation was graft failure (7/10, 70%). The postoperative BCVA improved to ≥20/200 in six patients. Nine out of 10 patients had retained keratoprosthesis. The complications seen were inflammatory debris behind keratoprosthesis (n=4), retroprosthetic membrane (n=2), glaucoma (n=4), small (keratoprosthesis was performed in one eye due to fungal keratitis. Auro keratoprosthesis, a low-cost keratoprosthesis, is a viable option in the end-stage corneal disease in this preliminary study. Multicentre studies with long-term follow-up are required to conclusively prove its safety and efficacy. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  15. [Social diseases, civilization diseases or lifestyle diseases?].

    Science.gov (United States)

    Betlejewski, Stansław

    2007-01-01

    In general, the development of civilization is viewed as a positive step for the well-being of the human species, leading to an increased duration and quality of life. The accelerated progress of civilization (mainly industrialization, urbanization and nutrition) has lead to new possibilities for adverse effects on human health. In former high civilization--like old Egypt, Greece, Roman, Chinese, Indian, Maya civilizations--the "modem civilization diseases" were unknown. Modem science through improved sanitation, vaccination and antibiotics as well as improved social and economical conditions, has eliminated the threat of death from most infectious diseases. In the years after World War II the social, economic and health conditions changed. Most deaths have resulted from heart disease, stroke, cancer and other diseases as a result of an inappropriate relationship of people with their environment and changed lifestyle. Lifestyle diseases are different from other diseases because they are potentially preventable and can be lowered with changes in diet, lifestyle and environment.

  16. Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI

    Science.gov (United States)

    Ferrier, Andrew; Sato, Tadasu; De Repentigny, Yves; Gibeault, Sabrina; Bhanot, Kunal; O'Meara, Ryan W.; Lynch-Godrei, Anisha; Kornfeld, Samantha F.; Young, Kevin G.; Kothary, Rashmi

    2014-01-01

    A newly identified lethal form of hereditary sensory and autonomic neuropathy (HSAN), designated HSAN-VI, is caused by a homozygous mutation in the bullous pemphigoid antigen 1 (BPAG1)/dystonin gene (DST). The HSAN-VI mutation impacts all major neuronal BPAG1/dystonin protein isoforms: dystonin-a1, -a2 and -a3. Homozygous mutations in the murine Dst gene cause a severe sensory neuropathy termed dystonia musculorum (dt). Phenotypically, dt mice are similar to HSAN-VI patients, manifesting progressive limb contractures, dystonia, dysautonomia and early postnatal death. To obtain a better molecular understanding of disease pathogenesis in HSAN-VI patients and the dt disorder, we generated transgenic mice expressing a myc-tagged dystonin-a2 protein under the regulation of the neuronal prion protein promoter on the dtTg4/Tg4 background, which is devoid of endogenous dystonin-a1 and -a2, but does express dystonin-a3. Restoring dystonin-a2 expression in the nervous system, particularly within sensory neurons, prevented the disorganization of organelle membranes and microtubule networks, attenuated the degeneration of sensory neuron subtypes and ameliorated the phenotype and increased life span in these mice. Despite these improvements, complete rescue was not observed likely because of inadequate expression of the transgene. Taken together, this study provides needed insight into the molecular basis of the dt disorder and other peripheral neuropathies including HSAN-VI. PMID:24381311

  17. Kimura disease

    Science.gov (United States)

    AlGhamdi, Fares E.; Al-Khatib, Talal A.; Marzouki, Hani Z.; AlGarni, Mohammed A

    2016-01-01

    Kimura disease is a chronic inflammatory disease that mainly manifests as a lump in the cervical region. Although the underlying pathophysiology is not clear yet, the diagnosis can be established based on specific histopathological characteristics. The first case of this disease was described in China, as well as the majority of subsequent cases that were also described in the Far East countries made Kimura disease traditionally a disease of adult patients of Asian descent. This report describes the occurrence of Kimura disease in pediatric non-Asian patient with a similar clinicopathologic presentation. PMID:26905356

  18. Digestive Diseases

    Science.gov (United States)

    ... Control Problems (Fecal Incontinence) Gas Lactose Intolerance Diarrhea Diverticulosis & Diverticulitis Acid Reflux (GER & GERD) More Digestive Disease ... Polyps Constipation Crohn's Disease Cyclic Vomiting ... and Diverticulitis Dumping Syndrome Foodborne Illnesses Gallstones Gas ...

  19. Heart Disease

    Science.gov (United States)

    ... Awareness Day National Women's Health Week Supporting Nursing Moms at Work Popular Topics Autoimmune diseases Breastfeeding Carpal tunnel syndrome ... Awareness Day National Women's Health Week Supporting Nursing Moms at Work Popular Topics Autoimmune diseases Breastfeeding Carpal tunnel syndrome ...

  20. Schilder's Disease

    Science.gov (United States)

    ... is not the same as Addison-Schilder disease (adrenoleukodystrophy). Symptoms may include dementia, aphasia, seizures, personality changes, ... is not the same as Addison-Schilder disease (adrenoleukodystrophy). Symptoms may include dementia, aphasia, seizures, personality changes, ...

  1. Coeliac disease

    African Journals Online (AJOL)

    2013-03-08

    . Coeliac disease, often called coeliac sprue, is an autoimmune disorder of the small intestine which occurs in genetically predisposed people. Coeliac disease is not an allergy or intolerance to gluten. It can present at all ages,.

  2. Parkinson's Disease

    Science.gov (United States)

    Parkinson's disease (PD) is a type of movement disorder. It happens when nerve cells in the brain don't ... coordination As symptoms get worse, people with the disease may have trouble walking, talking, or doing simple ...

  3. Addison Disease

    Science.gov (United States)

    ... blood pressure and water and salt balance. Addison disease happens if the adrenal glands don't make ... problem with your immune system usually causes Addison disease. The immune system mistakenly attacks your own tissues, ...

  4. Raynaud's Disease

    Science.gov (United States)

    Raynaud's disease is a rare disorder of the blood vessels, usually in the fingers and toes. It causes the ... secondary Raynaud's, which is caused by injuries, other diseases, or certain medicines. People in colder climates are ...

  5. Wilson Disease

    Science.gov (United States)

    Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. You need ... copper into bile, a digestive fluid. With Wilson disease, the copper builds up in your liver, and ...

  6. Fifth Disease

    Science.gov (United States)

    Fifth disease is a viral infection caused by parvovirus B19. The virus only infects humans; it's not the same parvovirus that dogs and cats can get. Fifth disease mostly affects children. Symptoms can include a low ...

  7. Meniere's Disease

    Science.gov (United States)

    Meniere's disease is a disorder of the inner ear. It can cause severe dizziness, a roaring sound in your ... together over several days. Some people with Meniere's disease have "drop attacks" during which the dizziness is ...

  8. Gaucher Disease

    Science.gov (United States)

    Gaucher disease is a rare, inherited disorder. It is a type of lipid metabolism disorder. If you have it, ... It usually starts in childhood or adolescence. Gaucher disease has no cure. Treatment options for types 1 ...

  9. Kidney Diseases

    Science.gov (United States)

    ... urine until you go to the bathroom. Most kidney diseases attack the nephrons. This damage may leave kidneys ... or medicines. You have a higher risk of kidney disease if you have diabetes, high blood pressure, or ...

  10. Parkinson disease

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000755.htm Parkinson disease To use the sharing features on this page, please enable JavaScript. Parkinson disease causes certain brain cells to die. These ...

  11. Legionnaire disease

    Science.gov (United States)

    ... disease is less severe. Risk factors include: Alcohol abuse Cigarette smoking Chronic illnesses, such as kidney failure ... Antibiotics are used to fight the infection. Treatment is started as soon as Legionnaire disease is suspected, ...

  12. Liver disease

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000205.htm Liver disease To use the sharing features on this page, please enable JavaScript. The term "liver disease" applies to many conditions that stop the ...

  13. Liver Diseases

    Science.gov (United States)

    Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. There are many kinds of liver diseases: Diseases caused by viruses, such as hepatitis ...

  14. Lyme Disease

    Science.gov (United States)

    ... can also spread to the nervous system, causing facial paralysis ( Bell's palsy ), or meningitis. The last stage of ... symptoms, joint pain or a swollen joint, or facial paralysis. How Is Lyme Disease Treated? Lyme disease is ...

  15. Liver Disease

    Science.gov (United States)

    ... from one or both of your parents can cause various substances to build up in your liver, resulting in liver damage. Genetic liver diseases include: Hemochromatosis Hyperoxaluria and oxalosis Wilson's disease Cancer and other growths Examples include: Liver cancer Bile ...

  16. Whipple Disease

    Science.gov (United States)

    ... ed. Sleisenger and Fordtran’s Gastrointestinal and Liver Disease: Pathophysiology/ Diagnosis/Management. 9th ed. Philadelphia: Saunders; 2010: 1833– ... treatment. Hope through Research The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) conducts and ...

  17. Alexander Disease

    Science.gov (United States)

    ... may be other genetic or perhaps even non-genetic causes of Alexander disease. Current research is aimed at understanding the mechanisms by which the mutations cause disease, developing better animal models for the disorder, and exploring potential strategies ...

  18. Alpers' Disease

    Science.gov (United States)

    ... Alpers-like" phenotype without liver disease have POLG mutations. × Definition Alpers' disease is a progressive, neurodevelopmental, mitochondrial DNA depletion syndrome characterized by three co-occurring clinical ...

  19. Farber's Disease

    Science.gov (United States)

    ... SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Farber’s disease, also known as Farber's lipogranulomatosis, describes a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids ( ...

  20. Graves disease

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000358.htm Graves disease To use the sharing features on this page, please enable JavaScript. Graves disease is an autoimmune disorder that leads to an ...

  1. Buerger's Disease

    Science.gov (United States)

    ... is linked to the development of Buerger's disease. Sex Buerger's disease is far more common in males ... Clinic does not endorse any of the third party products and services advertised. Advertising and sponsorship policy ...

  2. Meniere's Disease

    Science.gov (United States)

    ... of Meniere's disease isn't understood. One popular theory that hasn't been proved is that Meniere's ... Medical Education and Research; 2015. Foster CA. Optimal management of Meniere's disease. Therapeutics and Clinical Risk Management. ...

  3. Fungal Diseases

    Science.gov (United States)

    ... Patients Medications that Weaken Your Immune System Outbreaks Rhizopus Investigation CDC at Work Global Fungal Diseases Cryptococcal ... September 6, 2017 Content source: Centers for Disease Control and Prevention National Center for Emerging and Zoonotic ...

  4. Chagas Disease

    Science.gov (United States)

    Chagas disease is caused by a parasite. It is common in Latin America but not in the United ... There are no vaccines or medicines to prevent Chagas disease. If you travel to areas where it occurs, ...

  5. Kidney Disease

    Science.gov (United States)

    ... Breath? Talking to Your Parents - or Other Adults Kidney Disease KidsHealth > For Teens > Kidney Disease Print A A A What's in this article? ... uh-jist), a doctor who specializes in treating kidney diseases. The doctor will ask you about any concerns ...

  6. Legionnaires' Disease

    Science.gov (United States)

    ... get sick if you Are older than 50 Smoke Have a chronic lung disease Have a weak immune system Legionnaires' disease is serious and can be life-threatening. However, most people recover with antibiotic treatment. Centers for Disease Control and Prevention

  7. Lyme Disease

    Science.gov (United States)

    ... common are at higher risk of getting tick-borne diseases. How is Lyme disease diagnosed? It can be ... If clothes are dirty, wash them in hot water and dry on high heat for 60 minutes. Lyme disease treatment What do I do if I find ...

  8. Infectious Diseases

    International Development Research Centre (IDRC) Digital Library (Canada)

    GeneratinG knowledGe. IDRC-supported researchers have successfully applied ecohealth approaches to produce knowledge on the root causes of infectious diseases worldwide. Fighting chagas disease in guatemala. Chagas disease is a serious infection transmitted from animals to humans by a reduvidae bug. In.

  9. Lyme Disease.

    Science.gov (United States)

    Taylor, George C.

    1991-01-01

    This overview of the public health significance of Lyme disease includes the microbiological specifics of the infectious spirochete, the entomology and ecology of the ticks which are the primary disease carrier, the clinical aspects and treatment stages, the known epidemiological patterns, and strategies for disease control and for expanded public…

  10. Lyme Disease

    OpenAIRE

    Ozdemir, Davut; İnce, Nevin

    2015-01-01

    Lyme disease (LD) is caused by the spirochete, Borrelia burgdorferi sensu lato complex. Humans are infected by a tick bite to the skin. This disease is a non-contagious infectious disease. It has been known since the 19th century. LD has a worldwide distribution. It is endemic in Europe, North and South America. There are case reports since 1990 in Turkey. The clinical presentation varies depending on the stage of the disease. Lyme disease is classified into three stages: early localized dise...

  11. [Tangier disease].

    Science.gov (United States)

    Saku, K; Jimi, S; Ohta, T; Arakawa, K

    1994-12-01

    Tangier disease, a familial HDL-deficiency syndrome, was first reported by Fredrickson et al. in 1961. Since then, a great deal research on the mechanism of HDL-deficiency in this disease has been done from the prospective of lipoprotein compositions, in vivo HDL kinetics, cell and receptor interactions and genomic DNA analysis. These studies have found a relatively increased fractional catabolic rate of apo HDL with essentially no change in the synthesis of apo HDL. As yet, no structural defect has been found in the apo A-I gene. However, there have been reports of irregular lipid metabolism and of disorders in the Golgi apparatus and lysosome processing. Interestingly, the frequency of coronary heart disease is low in patients with Tangier disease. In this report, we describe the clinical and biochemical characteristics of Tangier disease and suggest some possible mechanisms for preventing coronary heart disease.

  12. Morgellons Disease

    OpenAIRE

    Ohn, Jungyoon; Park, Seon Yong; Moon, Jungyoon; Choe, Yun Seon; Kim, Kyu Han

    2017-01-01

    Morgellons disease is a rare disease with unknown etiology. Herein, we report the first case of Morgellons disease in Korea. A 30-year-old woman presented with a 2-month history of pruritic erythematous patches and erosions on the arms, hands, and chin. She insisted that she had fiber-like materials under her skin, which she had observed through a magnifying device. We performed skin biopsy, and observed a fiber extruding from the dermal side of the specimen. Histopathological examination sho...

  13. Infectious disease

    Science.gov (United States)

    Pierson, Duane L.

    1990-01-01

    This is a collection of viewgraphs on the Johnson Space Center's work on infectious disease. It addresses their major concern over outbreaks of infectious disease that could jeopardize the health, safety and/or performance of crew members engaged in long duration space missions. The Antarctic environment is seen as an analogous location on Earth and a good place to carry out such infectious disease studies and methods for proposed studies as suggested.

  14. Celiac disease

    Directory of Open Access Journals (Sweden)

    Radlović Nedeljko

    2013-01-01

    Full Text Available Celiac disease is a multysystemic autoimmune disease induced by gluten in wheat, barley and rye. It is characterized by polygenic predisposition, high prevalence (1%, widely heterogeneous expression and frequent association with other autoimmune diseases, selective deficit of IgA and Down, Turner and Williams syndrome. The basis of the disease and the key finding in its diagnostics is symptomatic or asymptomatic inflammation of the small intestinal mucosa which resolves by gluten-free diet. Therefore, the basis of the treatment involves elimination diet, so that the disorder, if timely recognized and adequately treated, also characterizes excellent prognosis.

  15. Celiac disease

    Directory of Open Access Journals (Sweden)

    Holtmeier Wolfgang

    2006-03-01

    Full Text Available Abstract Celiac disease is a chronic intestinal disease caused by intolerance to gluten. It is characterized by immune-mediated enteropathy, associated with maldigestion and malabsorption of most nutrients and vitamins. In predisposed individuals, the ingestion of gluten-containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. The main symptoms are: stomach pain, gas, and bloating, diarrhea, weight loss, anemia, edema, bone or joint pain. Prevalence for clinically overt celiac disease varies from 1:270 in Finland to 1:5000 in North America. Since celiac disease can be asymptomatic, most subjects are not diagnosed or they can present with atypical symptoms. Furthermore, severe inflammation of the small bowel can be present without any gastrointestinal symptoms. The diagnosis should be made early since celiac disease causes growth retardation in untreated children and atypical symptoms like infertility or neurological symptoms. Diagnosis requires endoscopy with jejunal biopsy. In addition, tissue-transglutaminase antibodies are important to confirm the diagnosis since there are other diseases which can mimic celiac disease. The exact cause of celiac disease is unknown but is thought to be primarily immune mediated (tissue-transglutaminase autoantigen; often the disease is inherited. Management consists in life long withdrawal of dietary gluten, which leads to significant clinical and histological improvement. However, complete normalization of histology can take years.

  16. Wilson disease

    Science.gov (United States)

    ... nervous system and peripheral nervous system Copper urine test References Cox DW, Roberts EA. Wilson disease. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal ...

  17. Dent's disease

    National Research Council Canada - National Science Library

    Devuyst, Olivier; Thakker, Rajesh V

    2010-01-01

    Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis...

  18. [Periodontal disease].

    Science.gov (United States)

    Michikawa, Makoto

    2014-04-01

    It has been shown that the inflammatory pathways are activated in the brains of patients with Alzheimer disease (AD), and the use of anti-inflammatory drugs reduces risk to develop AD. It is understood that molecules involved in this inflammation promote pathological processes leading to AD, whereas other molecules work to protect neuron/brain function from toxicity found in AD pathogenesis. Periodontal disease is one of the diseases causing inflammation and recent lines of evidence show the link between these two diseases. In this paper, relationship between periodontitis and AD will be reviewed and the possible mechanisms, by which periodontitis may affect the onset and progression of AD, will be discussed.

  19. Pompe Disease

    Science.gov (United States)

    ... reliably identified via genetic mutation analysis. View Full Definition Treatment Individuals with Pompe disease are best treated by a team of specialists (such as cardiologist, neurologist, and respiratory ...

  20. Sandhoff Disease

    Science.gov (United States)

    ... SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Sandhoff disease is a rare, inherited lipid storage disorder that progressively destroys nerve cells in ...

  1. Behcet's Disease

    Science.gov (United States)

    ... Seizures Information Page Fibromuscular Dysplasia Information Page Foot Drop Information Page Friedreich's Ataxia Information Page Gaucher Disease Information Page Generalized Gangliosidoses Information Page Gerstmann's Syndrome ...

  2. Binswanger's Disease

    Science.gov (United States)

    ... Seizures Information Page Fibromuscular Dysplasia Information Page Foot Drop Information Page Friedreich's Ataxia Information Page Gaucher Disease Information Page Generalized Gangliosidoses Information Page Gerstmann's Syndrome ...

  3. Leigh's Disease

    Science.gov (United States)

    ... Seizures Information Page Fibromuscular Dysplasia Information Page Foot Drop Information Page Friedreich's Ataxia Information Page Gaucher Disease Information Page Generalized Gangliosidoses Information Page Gerstmann's Syndrome ...

  4. Is "Parkinson's disease" one disease?

    OpenAIRE

    Calne, D B

    1989-01-01

    Consideration is given to how and why categories of ill health are divided into diseases. Aetiology is a fundamental criterion for the delineation of individual diseases. The same clinical and pathological picture may have many different causes; for example meningococcal meningitis and pneumococcal meningitis are distinct diseases that may display the same symptoms and signs. On the other hand, a single aetiology may lead to quite separate clinical and pathological phenomena; for example, neu...

  5. Liver Disease

    Science.gov (United States)

    ... A through E and beyond. National Institute of Diabetes and Digestive and Kidney Diseases. http://digestive.niddk.nih.gov/ddiseases/pubs/viralhepatitis/index.aspx. Accessed March 25, 2014. July 15, 2014 Original article: http://www.mayoclinic.org/diseases-conditions/liver- ...

  6. Menetrier's Disease

    Science.gov (United States)

    ... with Ménétrier’s disease who also had Helicobacter pylori (H. pylori) infection. H. pylori is a bacterium that is a cause of ... the small intestine. In these cases, treatment for H. pylori reversed and improved the symptoms of Ménétrier’s disease. ...

  7. Pick disease

    Science.gov (United States)

    ... rare form of dementia that is similar to Alzheimer disease , except that it tends to affect only certain areas of the brain. Causes People ... Volunteer services People with Pick disease and their family may need to seek legal advice early in the course of the disorder. ... (Prognosis) The disorder ...

  8. Sycamore diseases

    Science.gov (United States)

    F. I. McCracken

    1989-01-01

    The canker stain disease, one of several fungi that cause cankers of sycamore, can cause serious loss of sycamores in natural stands, plantations, and urban areas. As many as 35 percent of the trees in some stands may be diseased. Affected trees develop thin crowns, twig dieback, small leaves and epicormic branches. The narrow, elongate, bark covered, flat, spiraling...

  9. Angara disease

    African Journals Online (AJOL)

    Jane

    2011-10-12

    Oct 12, 2011 ... The farmers were advised to use quality vaccines against Angara disease as the vaccines can provide. 100% protection against the disease if they are given at the proper age. REFERENCES. Afzal M, Ahmed I (1990). Efficacy of an inactivated vaccine against. Hydropericardium syndrome in broilers, Vet.

  10. Crohn's Disease

    Science.gov (United States)

    ... Syndrome (IBS) in Children Lactose Intolerance Ménétrier’s Disease Microscopic Colitis Ostomy Surgery of the Bowel Pancreatitis Definition & Facts ... Upper GI Endoscopy Related Conditions & Diseases Ulcerative Colitis Microscopic Colitis Your Digestive System & How it Works The digestive ...

  11. Infectious Diseases

    Science.gov (United States)

    ... such as undercooked hamburger or unpasteurized fruit juice. Risk factors While anyone can catch infectious diseases, you may be more likely to get ... have been linked to a long-term increased risk of cancer: Human ... In addition, some infectious diseases may become silent, only to appear again ...

  12. Coeliac disease

    DEFF Research Database (Denmark)

    Reilly, Norelle R; Husby, Steffen; Sanders, David S

    2018-01-01

    , these guidelines are not universally accepted. In this Perspective, we discuss the pros and cons of a biopsy-avoiding pathway for the diagnosis of coeliac disease, especially in this current era of the call for more biopsies, even from the duodenal bulb, in the diagnosis of coeliac disease. In addition, a contrast...

  13. [Caroli's disease].

    Science.gov (United States)

    Duvnjak, Marko; Supanc, Vladimir; Virović, Lucija; Tomasić, Vedran; Dojcinović, Bojan

    2003-01-01

    Caroli's disease is a rare condition characterized by congenital polycystic dilatation of the intrahepatic bile ducts. The most frequent clinical presentation of a simple type (Caroli's disease) is recurrent cholangitis, gallstone with pain, obstructive jaundice and episodes of pancreatitis in childhood and early adulthood. A more frequent type combined with congenital hepatic fibrosis is usually manifested with bleeding from esophageal varices consequential to portal hypertension. Treatment options, both conservative and surgical, are relatively limited and depend on the clinical presentation, localization of cysts in the liver, and stage of the disease. A 20-year-old man with Caroli's disease manifested with cholelithiasis and choledocholithiasis with recurrent pancreatitis at the age of 16 is presented. The diagnosis was confirmed by endoscopic retrograde cholangiopancreatography and magnetic resonance cholangiopancreatography. Treatment with ursodeoxycholic acid was initiated and after two years of follow-up the disease is stable.

  14. Alzheimer's disease.

    Science.gov (United States)

    Scheltens, Philip; Blennow, Kaj; Breteler, Monique M B; de Strooper, Bart; Frisoni, Giovanni B; Salloway, Stephen; Van der Flier, Wiesje Maria

    2016-07-30

    Although the prevalence of dementia continues to increase worldwide, incidence in the western world might have decreased as a result of better vascular care and improved brain health. Alzheimer's disease, the most prevalent cause of dementia, is still defined by the combined presence of amyloid and tau, but researchers are gradually moving away from the simple assumption of linear causality as proposed in the original amyloid hypothesis. Age-related, protective, and disease-promoting factors probably interact with the core mechanisms of the disease. Amyloid β42, and tau proteins are established core cerebrospinal biomarkers; novel candidate biomarkers include amyloid β oligomers and synaptic markers. MRI and fluorodeoxyglucose PET are established imaging techniques for diagnosis of Alzheimer's disease. Amyloid PET is gaining traction in the clinical arena, but validity and cost-effectiveness remain to be established. Tau PET might offer new insights and be of great help in differential diagnosis and selection of patients for trials. In the search for understanding the disease mechanism and keys to treatment, research is moving increasingly into the earliest phase of disease. Preclinical Alzheimer's disease is defined as biomarker evidence of Alzheimer's pathological changes in cognitively healthy individuals. Patients with subjective cognitive decline have been identified as a useful population in whom to look for preclinical Alzheimer's disease. Moderately positive results for interventions targeting several lifestyle factors in non-demented elderly patients and moderately positive interim results for lowering amyloid in pre-dementia Alzheimer's disease suggest that, ultimately, there will be a future in which specific anti-Alzheimer's therapy will be combined with lifestyle interventions targeting general brain health to jointly combat the disease. In this Seminar, we discuss the main developments in Alzheimer's research. Copyright © 2016 Elsevier Ltd. All

  15. Coeliac disease.

    Science.gov (United States)

    Leeds, John S; Hopper, Andrew D; Sanders, David S

    2008-01-01

    Coeliac disease is a common but often under diagnosed condition with important complications. It is due to immune-mediated gluten intolerance and may present in a number of ways. It has become more frequently diagnosed due to the recognition of the atypical presentations. In recent years, more sensitive and specific serological markers have been developed but the gold standard of diagnosis remains duodenal biopsy. Compliance with a strict, lifelong gluten-free diet is the cornerstone of management, improving symptoms and reducing complications of the disease. For this review, we focused on papers published on coeliac disease in recent years. Particular emphasis was given to clinical papers examining new methods for the diagnosis of coeliac disease or newer therapies for managing complications. The main source was PubMed and the major gastroenterology journals. Coeliac disease is more common than once thought with a prevalence of around 1%. Diagnosis should always be confirmed with a duodenal biopsy. Management of coeliac disease with a gluten-free diet remains the cornerstone of treatment. Some complications of coeliac disease, especially neurological, are not widely accepted despite growing support from the literature. Management of enteropathy-associated lymphoma has been difficult, and the optimal therapy is not known. Current understanding is such that coeliac disease is the most widely understood autoimmune condition. 'Atypical' presentations are becoming the most common presenting features of coeliac disease. Alternatives to the gluten-free diet are about to go into clinical studies. Similarly, better serological screening tests may obviate the need for duodenal biopsy. This review will try to summarize the current understanding of coeliac disease with regard to diagnosis, management, complications and future perspectives.

  16. Celiac Disease

    Directory of Open Access Journals (Sweden)

    Manoochehr Karjoo

    2014-08-01

    Full Text Available Celiac disease also known as gluten-sensitive enteropathy is characterized by intestinal mucosal damage and malabsorption from dietary intake of wheat, rye or barley. Symptoms may appear with introduction of cereal in the first 3 years of life. A second peak in symptoms occurs in adults during the third or forth decade and even as late as eight decade of life. The prevalence of this disease is approximately 1 in 250 adults. The disease is more prevalent in Ireland as high as 1 in 120 adults. The disorder occurs in Arab, Hispanics, Israeli Jews, Iranian and European but is rare in Chinese and African American. To have celiac disease the patient should have the celiac disease genetic markers as HLA DQ 2 and HLA DQ 8. Patient with celiac disease may have 95 per cent for DQ 2 and the rest is by DQ 8. Someone may have the genetic marker and never develops the disease. In general 50 percent with markers may develop celiac disease. To develop the disease the gene needs to become activated. This may happen with a viral or bacterial infection, a surgery, delivery, accident, or psychological stress. After activation of gene cause the tight junction to opens with the release of Zonulin This results in passage of gluten through the tight junction and formation of multiple antibodies and autoimmune disease. This also allows entrance of other proteins and development of multiple food allergies. As a result is shortening, flattening of intestinal villi resulting in food, vitamins and minerals malabsorption.

  17. Thyroid diseases and cerebrovascular disease

    NARCIS (Netherlands)

    Squizzato, A.; Gerdes, V. E. A.; Brandjes, D. P. M.; Büller, H. R.; Stam, J.

    2005-01-01

    Background and Purpose-Acute cerebral ischemia has been described in different diseases of the thyroid gland, and not only as a result of thyrotoxic atrial fibrillation and cardioembolic stroke. The purpose of this review is to summarize the studies on the relationship between thyroid diseases and

  18. Morgellons Disease.

    Science.gov (United States)

    Ohn, Jungyoon; Park, Seon Yong; Moon, Jungyoon; Choe, Yun Seon; Kim, Kyu Han

    2017-04-01

    Morgellons disease is a rare disease with unknown etiology. Herein, we report the first case of Morgellons disease in Korea. A 30-year-old woman presented with a 2-month history of pruritic erythematous patches and erosions on the arms, hands, and chin. She insisted that she had fiber-like materials under her skin, which she had observed through a magnifying device. We performed skin biopsy, and observed a fiber extruding from the dermal side of the specimen. Histopathological examination showed only mild lymphocytic infiltration, and failed to reveal evidence of any microorganism. The polymerase chain reaction for Borrelia burgdorferi was negative in her serum.

  19. Crohn's disease.

    LENUS (Irish Health Repository)

    Shanahan, Fergus

    2012-02-03

    Crohn\\'s disease is a disorder mediated by T lymphocytes which arises in genetically susceptible individuals as a result of a breakdown in the regulatory constraints on mucosal immune responses to enteric bacteria. Regulation of immune reactivity to enteric antigens has improved understanding of the pathophysiological mechanisms of Crohn\\'s disease, and has expanded therapeutic options for patients with this disorder. Disease heterogeneity is probable, with various underlying defects associated with a similar pathophysiological outcome. Although most conventional drug treatments are directed at modification of host response, therapeutic manipulation of the enteric flora is becoming a realistic option.

  20. Celiac Disease

    Science.gov (United States)

    ... Intestinal Pseudo-obstruction Irritable Bowel Syndrome (IBS) Definition & Facts Symptoms & Causes Diagnosis Treatment Eating, Diet, & Nutrition Clinical Trials Irritable Bowel Syndrome (IBS) in Children Lactose Intolerance Ménétrier’s Disease Microscopic Colitis Ostomy Surgery of the ...

  1. Infectious Diseases

    Science.gov (United States)

    ... yeasts. Athlete's foot is a common fungal infection. Parasites - animals or plants that survive by living on or in other living things. Malaria is an infection caused by a parasite. Infectious diseases can cause many different symptoms. Some ...

  2. Raynaud's Disease

    Science.gov (United States)

    ... who have a rare disease that leads to hardening and scarring of the skin (scleroderma) have Raynaud's. ... conditioner to a warmer temperature. Use insulated drinking glasses. By Mayo Clinic Staff . Mayo Clinic Footer Legal ...

  3. Leishmaniasis Disease

    Science.gov (United States)

    ... Leishmaniasis General Information Leishmaniasis FAQs Epidemiology & Risk Factors Biology Disease Diagnosis Treatment Prevention & Control Resources for Health Professionals Publications Additional Resources Get Email Updates To receive email updates about this page, enter ...

  4. Diverticular Disease

    Science.gov (United States)

    ... The most common conditions of diverticular disease are:Diverticulosis. This is the base condition where the pouches ... more common as you age. Most people with diverticulosis don’t know they have it.Diverticulitis. This ...

  5. Endocrine Diseases

    Science.gov (United States)

    ... hormone disorder. Hormone diseases also occur if your body does not respond to hormones the way it is supposed to. Stress, infection and changes in your blood's fluid and electrolyte balance can also influence hormone levels. In the United ...

  6. Addison's Disease

    Science.gov (United States)

    ... who have Addison’s disease find that taking this medicine improves their mood and sex drive.If you are experiencing an Addisonian crisis, you need immediate medical care. The treatment typically ...

  7. Autoinflammatory Diseases

    Science.gov (United States)

    ... Arthritis Lupus Polymyalgia Rheumatica Reactive Arthritis Psoriatic Arthritis Rheumatoid Arthritis Scleroderma Sjögren’s ... diseases refer to problems with the immune system, which usually fights off viruses, bacteria, and infection. It results when your immune cells ...

  8. Glomerular Diseases

    Science.gov (United States)

    ... Transplant Financial Help for Treatment of Kidney Failure Lupus Nephritis Nephrotic Syndrome in Adults Pain Medicine & Kidney Damage ... has also been implicated as a triggering factor. Lupus nephritis is the name given to the kidney disease ...

  9. Stargardt Disease

    Science.gov (United States)

    ... sharp central vision — for tasks like reading, watching television, and looking at faces. Decreased central vision is ... and ways to prevent it. A decrease in color perception also occurs in Stargardt disease. This is ...

  10. Celiac Disease

    Science.gov (United States)

    ... wheat. However, wheat-free doesn't mean gluten-free . Lawmakers are working to make labels easier for people with celiac disease by requiring companies to identify other components, such as hidden ingredients ...

  11. Huntington's Disease

    Science.gov (United States)

    ... Division of Neuroscience Director, NIH BRAIN Initiative® Health Scientist Administrator Channels Synapses Circuits Cluster Scientific Director, Division of Intramural Research Featured Director's Message menu search Enter Search Term Submit Search Huntington's Disease Information ...

  12. Krabbe Disease

    Science.gov (United States)

    ... Division of Neuroscience Director, NIH BRAIN Initiative® Health Scientist Administrator Channels Synapses Circuits Cluster Scientific Director, Division of Intramural Research Featured Director's Message menu search Enter Search Term Submit Search Krabbe Disease Information ...

  13. Canavan Disease

    Science.gov (United States)

    ... Division of Neuroscience Director, NIH BRAIN Initiative® Health Scientist Administrator Channels Synapses Circuits Cluster Scientific Director, Division of Intramural Research Featured Director's Message menu search Enter Search Term Submit Search Canavan Disease Information ...

  14. Gaucher Disease

    Science.gov (United States)

    ... Division of Neuroscience Director, NIH BRAIN Initiative® Health Scientist Administrator Channels Synapses Circuits Cluster Scientific Director, Division of Intramural Research Featured Director's Message menu search Enter Search Term Submit Search Gaucher Disease Information ...

  15. Thyroid Diseases

    Science.gov (United States)

    ... gland does not make enough thyroid hormones Thyroid cancer Thyroid nodules - lumps in the thyroid gland Thyroiditis - swelling of the thyroid To diagnose thyroid diseases, doctors use a medical history, physical exam, and thyroid tests. They sometimes also ...

  16. Retinal Diseases

    Science.gov (United States)

    ... Linked Retinoschisis (XLRS) X-Linked Retinitis Pigmentosa (XLRP) Usher Syndrome Other Retinal Diseases Glossary News & Research News & Research ... central portion of the retina called the macula. Usher Syndrome Usher syndrome is an inherited condition characterized by ...

  17. Fungal Diseases

    Science.gov (United States)

    ... also can infect the brain, bones, and heart (endocarditis). Superficial infections can occur in children with healthy ... B. Last Updated 11/21/2015 Source Immunizations & Infectious Diseases: An Informed Parent's Guide (Copyright © 2006 American ...

  18. Crohn's disease.

    Science.gov (United States)

    Ballester Ferré, María Pilar; Boscá-Watts, Marta Maia; Mínguez Pérez, Miguel

    2017-12-12

    Crohn's disease is a chronic inflammatory bowel disease of unknown etiology associated with an impaired immune response, with periods of activity and remission. It is characterised by patchy and transmural lesions which can affect the entire gastrointestinal tract, from the mouth to the anus. The most frequent symptoms are abdominal pain and diarrhoea, which can seriously affect patients' quality of life. The increasing incidence and prevalence of the disease in our area has had a large impact on clinical practice, with the rapid development of diagnostic and therapeutic techniques. To reduce the risk of complications, primary care physicians and gastroenterologists should be familiar with the management of the disease. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

  19. Hashimoto's Disease

    Science.gov (United States)

    ... can lead to problems during pregnancy, such as: Preeclampsia Anemia Miscarriage Placental abruption Postpartum bleeding It also ... AIDS Awareness Day National Women's Health Week Supporting Nursing Moms at Work Popular Topics Autoimmune diseases Breastfeeding ...

  20. Hirschsprung Disease

    Science.gov (United States)

    ... but they do know it can run in families and affects boys more often than girls. In fact, Hirschsprung disease is about five times more common in males than females. Children with Down syndrome and genetic heart conditions also ...

  1. Chagas disease

    Science.gov (United States)

    ... major health problems in South America. Due to immigration, the disease also affects people in the United ... nodes Irregular heartbeat Rapid heartbeat Tests include: Blood culture to look for signs of infection Chest x- ...

  2. Krabbe Disease

    Science.gov (United States)

    ... A gene provides a kind of blueprint for producing proteins. If there is an error in this ... Make a donation. Patient Care & Health Info Healthy Lifestyle Symptoms A-Z Diseases & Conditions A-Z Tests & ...

  3. Fabry Disease

    Science.gov (United States)

    ... SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and ...

  4. Batten Disease

    Science.gov (United States)

    ... SEARCH Definition Treatment ... In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are ...

  5. Parkinson's Disease

    Science.gov (United States)

    ... a loss of neurons that produce a chemical messenger in your brain called dopamine. When dopamine levels ... Diagnosis & treatment July 07, 2015 Print Share on: Facebook Twitter References Longo DL, et al. Parkinson's disease ...

  6. Huntington disease

    Science.gov (United States)

    ... that may be associated with this disease: Anxiety, stress, and tension Difficulty swallowing Speech impairment Symptoms in children: Rigidity Slow movements Tremor Exams and Tests The health care provider will perform ...

  7. Sever's Disease

    Science.gov (United States)

    ... place on hard surfaces, such as track, basketball, soccer, and gymnastics. Sever's disease also can result from ... plate flat or high arch , which affects the angle of the heel within the foot, causing tightness ...

  8. Crohn disease

    Science.gov (United States)

    Stappenbeck, Thaddeus S.; Rioux, John D.; Mizoguchi, Atsushi; Saitoh, Tatsuya; Huett, Alan; Darfeuille-Michaud, Arlette; Wileman, Tom; Mizushima, Noboru; Carding, Simon; Akira, Shizuo; Parkes, Miles; Xavier, Ramnik J.

    2011-01-01

    Crohn disease (CD) is a chronic and debilitating inflammatory condition of the gastrointestinal tract.1 Prevalence in western populations is 100–150/100,000 and somewhat higher in Ashkenazi Jews. Peak incidence is in early adult life, although any age can be affected and a majority of affected individuals progress to relapsing and chronic disease. Medical treatments rely significantly on empirical corticosteroid therapy and immunosuppression, and intestinal resectional surgery is frequently required. Thus, 80% of patients with CD come to surgery for refractory disease or complications. It is hoped that an improved understanding of pathogenic mechanisms, for example by studying the genetic basis of CD and other forms of inflammatory bowel diseases (IBD), will lead to improved therapies and possibly preventative strategies in individuals identified as being at risk. PMID:20729636

  9. [Wilson's disease

    OpenAIRE

    Duclos-Vallée, Jean-Charles; Ichaï, Philippe; Chapuis, Philippe; Misrahi, Micheline; Woimant, France

    2006-01-01

    http://www.huveaux.fr/fr_santesite.asp; Wilson's disease is an autosomal recessive disorder of copper excess. This illness results from mutations of the ATP7B gene chromosome 13. The discovery of the gene allowed a better understanding of cytosolic copper trafficking its relationship with ceruloplasmin synthesis. Symptomatic patients may present with hepatic, neurologic or psychiatric forms. Clinical and phenotypic evidences provide only presumptive arguments for this disease which can be rou...

  10. Menkes disease

    DEFF Research Database (Denmark)

    Tümer, Zeynep; Møller, Lisbeth B

    2010-01-01

    Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar 'kinky' hair are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority...... of surplus copper from cells. Severely affected MD patients die usually before the third year of life. A cure for the disease does not exist, but very early copper-histidine treatment may correct some of the neurological symptoms....

  11. Borna disease.

    OpenAIRE

    Hatalski, C G; Lewis, A J; Lipkin, W. I.

    1997-01-01

    Borna disease virus, a newly classified nonsegmented negative-strand RNA virus with international distribution, infects a broad range of warm-blooded animals from birds to primates. Infection causes movement and behavioral disturbances reminiscent of some neuropsychiatric syndromes. The virus has not been clearly linked to any human disease; however, an association between infection with the virus and selected neuropsychiatric disorders has been suggested. We reviewed recent advances in Borna...

  12. Pilonidal Disease

    OpenAIRE

    Khanna, Amit; Rombeau, John L.

    2011-01-01

    Pilonidal disease presents many therapeutic challenges to surgeons throughout the world. Its varied clinical presentations necessitate a wide range of treatments, thus underscoring the need to tailor the treatment to the patient and the severity of disease. Recent studies confirm the efficacy of smaller, more conservative operations for appropriate indications. When flap closures are performed, every attempt should be directed to placing sutures off (lateral) to the midline gluteal cleft. Met...

  13. Ollier disease

    Directory of Open Access Journals (Sweden)

    Jüppner Harald

    2006-09-01

    Full Text Available Abstract Enchondromas are common intraosseous, usually benign cartilaginous tumors, that develop in close proximity to growth plate cartilage. When multiple enchondromas are present, the condition is called enchondromatosis also known as Ollier disease (WHO terminology. The estimated prevalence of Ollier disease is 1/100,000. Clinical manifestations often appear in the first decade of life. Ollier disease is characterized by an asymmetric distribution of cartilage lesions and these can be extremely variable (in terms of size, number, location, evolution of enchondromas, age of onset and of diagnosis, requirement for surgery. Clinical problems caused by enchondromas include skeletal deformities, limb-length discrepancy, and the potential risk for malignant change to chondrosarcoma. The condition in which multiple enchondromatosis is associated with soft tissue hemangiomas is known as Maffucci syndrome. Until now both Ollier disease and Maffucci syndrome have only occurred in isolated patients and not familial. It remains uncertain whether the disorder is caused by a single gene defect or by combinations of (germ-line and/or somatic mutations. The diagnosis is based on clinical and conventional radiological evaluations. Histological analysis has a limited role and is mainly used if malignancy is suspected. There is no medical treatment for enchondromatosis. Surgery is indicated in case of complications (pathological fractures, growth defect, malignant transformation. The prognosis for Ollier disease is difficult to assess. As is generally the case, forms with an early onset appear more severe. Enchondromas in Ollier disease present a risk of malignant transformation of enchondromas into chondrosarcomas.

  14. Pseudoporfyri er et symptomkompleks

    DEFF Research Database (Denmark)

    Velander, Marie Juul; Thorsteinsdóttir, Sunna; Bygum, Anette

    2015-01-01

    Pseudoporphyria is a photosensitive bullous disease, which resembles porphyria cutanea tarda. Normal porphyrin levels in urine, stool and blood define pseudoporphyria. Pseudoporphyria is associated with chronic renal failure, haemodialysis, a variety of drugs (e.g. naproxen, nabumetone, furosemide...

  15. [Chagas disease].

    Science.gov (United States)

    Develoux, M; Lescure, F-X; Le Loup, G; Pialoux, G

    2009-08-01

    Chagas disease (human American trypanosomiasis) is a zoonose caused by the protozoan Trypanosoma cruzi. Vectors are Triatoma spp. insects. T. cruzi can also be transmitted by blood transfusion, organ transplantation, and transplacentally. Infection is generally acquired during infancy. The acute infection is rarely symptomatic and is followed by a chronic phase. Chronic infected people are asymptomatic (indeterminate stage) and may remain at this stage for the rest of their lives. About a third of infected people will develop a chronic Chagas disease which affects the heart and the digestive tract. Morbidity and mortality of chronic Chagas cardiomyopathy (CCC) are high. Specific treatment of asymptomatic infected individual could reduce the risk of progression to CCC. With control initiatives case incidence declined in most endemic countries. American trypanosomiasis has become an emerging imported disease in North America and Europe because of the migration of population originating from endemic zones. They are only two available drugs for specific treatment of Chagas disease: benznidazole and nifurtimox. Both have frequent side effects and variable efficacy according the phase of the disease. There is an urgent need for new treatments and better serological tests. Policies must be developed to avoid the risk of transmission trough blood transfusion and transplantation in developed countries.

  16. Childhood epidermolysis bullosa acquisita: Confirmation of diagnosis by skin deficient in Type VII Collagen, enzyme-linked immunosorbent assay, and immunoblotting

    Directory of Open Access Journals (Sweden)

    Nupur Goyal

    2016-01-01

    Full Text Available 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.

  17. Factitious Dermatitis Due to Thermal Burn With Histologic Features Simulating Fixed Drug Eruption.

    Science.gov (United States)

    Persad, Leah; Salim, Sadia; Motaparthi, Kiran

    2017-08-01

    Factitious dermatitis (FD) (dermatitis artefacta) is rare and often difficult to diagnose because of conflicting history and nonspecific clinical and histologic findings. It can present with varied clinical features including geometric ulcers, erosions, and less commonly bullae secondary to external trauma from chemicals, electric burns, heat, and suction. Herein, we describe a case of bullous FD due to thermal burn with histologic features demonstrating overlap with fixed drug eruption. Histopathology demonstrated a subepidermal blister with epidermal necrosis along with pigment incontinence and dermal eosinophils and neutrophils. Although these features, and the clinician's impression, were suggestive of fixed drug eruption, several morphologic findings allowed accurate diagnosis of FD: sharp demarcation of necrotic keratinocytes from adjacent uninvolved epidermis, elongated keratinocytes reminiscent of thermal or electrical artifact, and multinucleated keratinocytes. Although FD is often considered a diagnosis of exclusion, these clues may help dermatopathologists distinguish this entity from inflammatory dermatoses.

  18. Childhood Epidermolysis Bullosa Acquisita: Confirmation of Diagnosis by Skin Deficient in Type VII Collagen, Enzyme-linked Immunosorbent Assay, and Immunoblotting.

    Science.gov (United States)

    Goyal, Nupur; Rao, Raghavendra; Balachandran, C; Pai, Sathish; Bhogal, Balbir S; Schmidt, Enno; Zillikens, Detlef

    2016-01-01

    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.

  19. HIV and Rheumatic Disease

    Science.gov (United States)

    ... A Patient / Caregiver Diseases & Conditions HIV & Rheumatic Diseases HIV and Rheumatic Disease Fast Facts Rheumatic diseases related ... knows he or she has HIV. What are HIV-associated rheumatic diseases? Some diseases of the joints ...

  20. Disease Outbreak News

    Science.gov (United States)

    ... Diseases Biorisk reduction Disease outbreak news Disease Outbreak News (DONs) Latest DONs Rift Valley fever – Gambia ... Disease outbreaks by country RSS feeds Disease outbreak news Related links Ebola virus disease - website Avian influenza ...

  1. Celiac disease

    DEFF Research Database (Denmark)

    Hvas, Christian Lodberg; Jensen, Michael Dam; Reimer, Maria Christina

    2015-01-01

    This national clinical guideline approved by the Danish Society for Gastroenterology and Hepatology describes the diagnosis and treatment of celiac disease (CD) in adults. CD is a chronic immunemediated enteropathy of the small intestine triggered by the ingestion of gluten-containing proteins......, which are found in wheat, rye, and barley. The disease prevalence is 0.5-1.0%, but CD remains under-diagnosed. The diagnosis relies on the demonstration of lymphocyte infiltration, crypt hyperplasia, and villous atrophy in duodenal biopsies. Serology, malabsorption, biochemical markers...... the small intestinal mucosa and absorption. Adherence to a GFD usually requires dietary advice from a clinical dietician. The monitoring of antibody levels and malabsorption markers is crucial during follow-up and allows for early treatment of disease complications. Important complications include...

  2. [Dupuytren disease].

    Science.gov (United States)

    Wagner, Pablo; Román, Javier A; Vergara, Jorge

    2012-09-01

    Dupuytren disease (DD) is a connective tissue disorder that consists in fibromatosis of the palmar and digital fascia (in form of nodules or flanges) that leads to the development of flexion contractures of the palm and fingers. The little and ring finger are particularly affected. The disease can limit hand function, reducing the quality of life. The disease can have a traumatic origin and is also associated with conditions such as diabetes mellitus, alcoholism, dyslipidemia, epilepsy and AIDS, among others. However, none of these conditions can fully explain the genesis of DD. A hereditary component is described in 40% of patients and is attributed to an autosomal dominant gene of variable penetrance, probably related to collagen synthesis. However there are also spontaneous and recessive inheritance cases. The diagnosis is clinical and based on physical examination. Treatment ranges from observation or use of injectable collagenase to the surgical option in cases with significant functional limitations.

  3. Alzheimer's disease.

    Science.gov (United States)

    Moody, G H; Drummond, J R; Newton, J P

    1990-07-21

    Alzheimer's disease (AD) is a debilitating and progressive disease that can affect dental practice in a number of ways. Not only will increasing numbers of AD patients be treated by dentists in the future but the dentist and members of his family may also be unfortunate enough to become affected. In the United Kingdom, nearly 10% of the population over 65 years of age, and more than 20% of those over 80 years develop progressive deterioration of memory, resulting in a breakdown of intellectual capacity and personality. More than half of those are suffering from AD. The purpose of this review is to describe the aetiology and behavioural aspects of this distressing disease and to highlight some problems that the dentist may encounter when treating those patients.

  4. Parkinson's disease

    DEFF Research Database (Denmark)

    Astradsson, Arnar; Aziz, Tipu Z

    2015-01-01

    INTRODUCTION: The mean age of onset of Parkinson's disease is about 65 years, with a median time of 9 years between diagnosis and death. METHODS AND OUTCOMES: We conducted a systematic review and aimed to answer the following clinical question: What are the effects of fetal cell or stem cell......-derived therapy in people with Parkinson's disease? We searched: Medline, Embase, The Cochrane Library and other important databases up to September 2014 (Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from...

  5. Dupuytren's disease.

    Science.gov (United States)

    Worrell, Michael

    2012-01-01

    Dupuytren's disease is a benign contractile disorder of the hand. The condition commonly affects older men of Celtic descent. Although fibroproliferation and collagen alteration play a role in its etiology, defining a cause remains elusive. Nonoperative intervention for advanced disease has shown only short-term benefit. Therefore, open fasciectomy has become the mainstay of treatment. Associated morbidity and recurrence have prompted investigation into less invasive techniques, including needle aponeurotomy and enzymatic fasciotomy. Data from phase III studies using injectable collagenase are changing treatment algorithms. Postoperative rehabilitation includes nighttime splinting and immediate active range of motion exercises to facilitate return to function. Copyright 2012, SLACK Incorporated.

  6. Dent's disease

    Directory of Open Access Journals (Sweden)

    Thakker Rajesh V

    2010-10-01

    Full Text Available Abstract Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. These features are generally found in males only, and may be present in early childhood, whereas female carriers may show a milder phenotype. Prevalence is unknown; the disorder has been reported in around 250 families to date. Complications such as rickets or osteomalacia may occur. The disease is caused by mutations in either the CLCN5 (Dent disease 1 or OCRL1 (Dent disease 2 genes that are located on chromosome Xp11.22 and Xq25, respectively. CLCN5 encodes the electrogenic Cl-/H+ exchanger ClC-5, which belongs to the CLC family of Cl- channels/transporters. OCRL1 encodes a phosphatidylinositol bisphosphate (PIP2 5-phosphatase and mutations are also associated with Lowe Syndrome. The phenotype of Dent's disease is explained by the predominant expression of ClC-5 in the proximal tubule segments of the kidney. No genotype-phenotype correlation has been described thus far, and there is considerable intra-familial variability in disease severity. A few patients with Dent's disease do not harbour mutations in CLCN5 and OCRL1, pointing to the involvement of other genes. Diagnosis is based on the presence of all three of the following criteria: low-molecular-weight proteinuria, hypercalciuria and at least one of the following: nephrocalcinosis, kidney stones, hematuria, hypophosphatemia or renal insufficiency. Molecular genetic testing confirms the diagnosis. The differential diagnosis includes other causes of generalized dysfunction of the proximal tubules (renal Fanconi syndrome, hereditary, acquired, or caused by exogenous substances. Antenatal diagnosis and pre-implantation genetic testing is not advised. The care of patients with Dent's disease is supportive, focusing on the treatment of hypercalciuria and

  7. Pilonidal disease.

    Science.gov (United States)

    Khanna, Amit; Rombeau, John L

    2011-03-01

    Pilonidal disease presents many therapeutic challenges to surgeons throughout the world. Its varied clinical presentations necessitate a wide range of treatments, thus underscoring the need to tailor the treatment to the patient and the severity of disease. Recent studies confirm the efficacy of smaller, more conservative operations for appropriate indications. When flap closures are performed, every attempt should be directed to placing sutures off (lateral) to the midline gluteal cleft. Meticulous attention to the details of immediate and long-term postoperative care is paramount.

  8. Ostrich diseases.

    Science.gov (United States)

    Verwoerd, D J

    2000-08-01

    Scientific knowledge of ostrich diseases is incomplete and very fragmented, with specific details on technical aspects of diagnostic and/or screening tests completely absent in most cases. Salmonella Typhimurium is common in multispecies collections and causes mortality in chicks younger than three months on commercial farms, but is rarely found in chicks older than six months, or slaughter birds of twelve to fourteen months in southern Africa. Campylobacter jejuni and Chlamydia psittaci are occasionally reported, mainly in young ostriches, but both remain a diagnostic challenge. Crimean-Congo haemorrhagic fever is transmitted to domestic animals including ostriches, principally by ticks of the genus Hyalomma. In the ostrich, the disease causes no clinical symptoms during a viraemia of approximately four days. Spongiform encephalopathy has not been reliably reported in ostriches, while anthrax has occurred rarely in modern times but was reportedly an important cause of death approximately 100 years ago in South Africa. Salmonella Gallinarum and S. Pullorum are unknown in ostriches. Pasteurella multocida occurs but is easily contained with antibiotics. Mycoplasma spp. are regularly found in an upper respiratory disease syndrome complicated by opportunistic bacterial pathogens. Ostriches of all ages are susceptible to challenge by velogenic Newcastle disease virus (NDV), but standard inactivated La Sota poultry vaccines can stimulate protective immunity lasting over six months. The viraemic period in vaccinated slaughter ostriches is between nine and eleven days and there are no indications of a carrier state or presence of the virus in the meat or any other tissues after this period, with peak immunoglobulin G response reached on day fourteen post infection. Haemagglutination inhibition tests are significantly less sensitive and less specific than enzyme-linked immunosorbent assays. Cloacal and choanal swabs used for direct virological screening in clinically

  9. Hansen's disease: a vanishing disease?

    Directory of Open Access Journals (Sweden)

    Sinésio Talhari

    2012-12-01

    Full Text Available The introduction, implementation, successes and failures of multidrug therapy (MDT in all Hansen's disease endemic countries are discussed in this paper. The high efficacy of leprosy treatment with MDT and the global reduction of prevalence led the World Health Organization, in 1991, to establish the goal of elimination of Hansen's disease (less than 1 patient per 10,000 inhabitants to be accomplished by the year 2000. Brazil, Nepal and East Timor are among the few countries that didn't reach the elimination goal by the year 2000 or even 2005. The implications of these aspects are highlighted in this paper. Current data from endemic and previously endemic countries that carry a regular leprosy control programme show that the important fall in prevalence was not followed by the reduction of the incidence. This means that transmission of Mycobacterium leprae is still an issue. It is reasonable to conclude that we are still far from the most important goal of Hansen's disease control: the interruption of transmission and reduction of incidence. It is necessary to emphasize to health managers the need of keeping Hansen's disease control activities to better develop control programmes in the future. The recent international proposal to interrupt the transmission of leprosy by the year 2020 seems to unrealistic and it is discussed in this paper. The possibility of epidemiological impact related to the human immunodeficiency virus/Hansen's disease coinfection is also considered.

  10. Huntington's disease: a perplexing neurological disease ...

    African Journals Online (AJOL)

    Huntington's disease has served as a model for the study of other more common neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease. Symptomatic treatment of Huntington's disease involves use of Dopamine antagonists, presynaptic dopamine depleters, Antidepressants, Tranquillizers ...

  11. Bone Diseases

    Science.gov (United States)

    ... need to get enough calcium, vitamin D, and exercise. You should also avoid smoking and drinking too much alcohol. Bone diseases can make bones easy to break. Different kinds of bone problems include Low bone density and osteoporosis, which make your bones weak and ...

  12. Wilson Disease

    Science.gov (United States)

    ... people taking zinc usually do not experience side effects, some people may experience stomach upset. A health care provider ... 738–4929 Email: nddic@info.niddk.nih.gov Internet: ... diseases to people with digestive disorders and to their families, health ...

  13. Behcet's Disease

    Science.gov (United States)

    ... síndrome de Behçet? (Esenciales: hojas informativas de fácil lectura) View/Download/Order Publications Behçet’s Disease, Easy-to- ... Media Moderation Policy FOIA Privacy Statement Accessibility Disclaimer Digital Strategy Open Source Data Public Data Listing NIH... ...

  14. Fifth Disease

    Science.gov (United States)

    ... recently infected. The blood test may be particularly helpful for pregnant women who may have been exposed to parvovirus B19 and are suspected to have fifth disease. Top of Page Prevention & Treatment Prevention There is no vaccine or medicine that can prevent parvovirus B19 infection. ...

  15. [Trophoblastic diseases

    NARCIS (Netherlands)

    Kate-Booij, M.J. ten; Lok, C.A.; Verheijen, R.H.; Massuger, L.F.A.G.; Trommel, N.E. van

    2008-01-01

    Hydatidiform mole is the most frequently-occurring gestational trophoblastic disease (GTD). Patients with GTD have elevated human chorionic gonadotrophin (HCG) produced by the trophoblast. After evacuation of the mole, weekly serum HCG determinations can be used to assess whether the trophoblast is

  16. Prionic diseases

    Directory of Open Access Journals (Sweden)

    Abelardo Q-C Araujo

    2013-09-01

    Full Text Available Prion diseases are neurodegenerative illnesses due to the accumulation of small infectious pathogens containing protein but apparently lacking nucleic acid, which have long incubation periods and progress inexorably once clinical symptoms appear. Prions are uniquely resistant to a number of normal decontaminating procedures. The prionopathies [Kuru, Creutzfeldt-Jakob disease (CJD and its variants, Gerstmann-Sträussler-Scheinker (GSS syndrome and fatal familial insomnia (FFI] result from accumulation of abnormal isoforms of the prion protein in the brains of normal animals on both neuronal and non-neuronal cells. The accumulation of this protein or fragments of it in neurons leads to apoptosis and cell death. There is a strong link between mutations in the gene encoding the normal prion protein in humans (PRNP - located on the short arm of chromosome 20 – and forms of prion disease with a familial predisposition (familial CJD, GSS, FFI. Clinically a prionopathy should be suspected in any case of a fast progressing dementia with ataxia, myoclonus, or in individuals with pathological insomnia associated with dysautonomia. Magnetic resonance imaging, identification of the 14-3-3 protein in the cerebrospinal fluid, tonsil biopsy and genetic studies have been used for in vivo diagnosis circumventing the need of brain biopsy. Histopathology, however, remains the only conclusive method to reach a confident diagnosis. Unfortunately, despite numerous treatment efforts, prionopathies remain short-lasting and fatal diseases.

  17. Huntington's disease

    DEFF Research Database (Denmark)

    Hjermind, Lena Elisabeth; Law, Ian; Jønch, Aia

    2011-01-01

    In this open-label pilot study, the authors evaluated the effect of memantine on the distribution of brain glucose metabolism in four Huntington's disease (HD) patients as determined by serial 18-fluoro-deoxyglucose [F(18)]FDG-PET scans over a period of 3-4 months (90-129 days, with one patient...

  18. Parasitic Diseases

    Science.gov (United States)

    ... to live. You can get them from contaminated food or water, a bug bite, or sexual contact. Some parasitic diseases are easily treated and some are not. Parasites range in size from tiny, one-celled organisms called protozoa to worms that can be seen with the naked eye. ...

  19. Blount Disease

    Science.gov (United States)

    ... a while. You'll also probably need physical therapy . The good news is that most teens make a complete recovery. The Outlook Most teens who have surgery to correct Blount disease can return to all their normal activities, even competitive sports. One lesson many people take away from dealing ...

  20. Graves' Disease

    Science.gov (United States)

    ... to pump enough blood to the body (congestive heart failure). Thyroid storm. A rare, but life-threatening complication of Graves' disease is thyroid storm, also known as accelerated hyperthyroidism or thyrotoxic crisis. It's more likely when severe hyperthyroidism is untreated ...

  1. Cushing disease

    Science.gov (United States)

    ... Symptoms Symptoms of Cushing disease include: Upper body obesity (above the waist) and thin arms and legs ... blood glucose and A1C to test for diabetes Lipid and cholesterol ... Medicine, Division of Metabolism, Endocrinology & Nutrition, University of Washington School of Medicine, ...

  2. Crohn's Disease

    Science.gov (United States)

    ... nutrition are sometimes given to Crohn’s disease patients to give the inflamed intestine a respite from solid food. top of page This page was reviewed on May 24, 2016 Send us your feedback Did you find the information you were looking ...

  3. Rh Disease

    Science.gov (United States)

    ... immunoglobulin called Rho(D) immune globulin (brand name RhoGAM®). RhoGAM can prevent your body from producing Rh antibodies ... and future pregnancies won’t get Rh disease. RhoGAM doesn’t work if your body has already ...

  4. Cardiovascular disease

    African Journals Online (AJOL)

    user

    +2348153319600. ABSTRACT: Background: Cardiovascular disease is a global epidemic; the prevalence is currently stable in the developed world but .... that culminate in malnutrition are believed to predominate. However, urbanization of .... risk factors promotes migration of inflammatory cells from the circulation and the ...

  5. Periodontal diseases.

    Science.gov (United States)

    Kinane, Denis F; Stathopoulou, Panagiota G; Papapanou, Panos N

    2017-06-22

    Periodontal diseases comprise a wide range of inflammatory conditions that affect the supporting structures of the teeth (the gingiva, bone and periodontal ligament), which could lead to tooth loss and contribute to systemic inflammation. Chronic periodontitis predominantly affects adults, but aggressive periodontitis may occasionally occur in children. Periodontal disease initiation and propagation is through a dysbiosis of the commensal oral microbiota (dental plaque), which then interacts with the immune defences of the host, leading to inflammation and disease. This pathophysiological situation persists through bouts of activity and quiescence, until the affected tooth is extracted or the microbial biofilm is therapeutically removed and the inflammation subsides. The severity of the periodontal disease depends on environmental and host risk factors, both modifiable (for example, smoking) and non-modifiable (for example, genetic susceptibility). Prevention is achieved with daily self-performed oral hygiene and professional removal of the microbial biofilm on a quarterly or bi-annual basis. New treatment modalities that are actively explored include antimicrobial therapy, host modulation therapy, laser therapy and tissue engineering for tissue repair and regeneration.

  6. Fabry disease

    Directory of Open Access Journals (Sweden)

    Germain Dominique P

    2010-11-01

    Full Text Available Abstract Fabry disease (FD is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease. Classically affected hemizygous males, with no residual α-galactosidase A activity may display all the characteristic neurological (pain, cutaneous (angiokeratoma, renal (proteinuria, kidney failure, cardiovascular (cardiomyopathy, arrhythmia, cochleo-vestibular and cerebrovascular (transient ischemic attacks, strokes signs of the disease while heterozygous females have symptoms ranging from very mild to severe. Deficient activity of lysosomal α-galactosidase A results in progressive accumulation of globotriaosylceramide within lysosomes, believed to trigger a cascade of cellular events. Demonstration of marked α-galactosidase A deficiency is the definitive method for the diagnosis of hemizygous males. Enzyme analysis may occasionnally help to detect heterozygotes but is often inconclusive due to random X-chromosomal inactivation so that molecular testing (genotyping of females is mandatory. In childhood, other possible causes of pain such as rheumatoid arthritis and 'growing pains' must be ruled out. In adulthood, multiple sclerosis is sometimes considered. Prenatal diagnosis, available by determination of enzyme activity or DNA testing in chorionic villi or cultured amniotic cells is, for ethical reasons, only considered in male fetuses. Pre-implantation diagnosis is possible. The existence of atypical variants and the availability of a specific therapy singularly complicate genetic counseling. A disease-specific therapeutic option - enzyme replacement therapy using recombinant human α-galactosidase A - has been recently introduced and its long term outcome is currently still being investigated. Conventional management consists of pain relief with

  7. Morgellons disease?

    Science.gov (United States)

    Accordino, Robert E; Engler, Danielle; Ginsburg, Iona H; Koo, John

    2008-01-01

    Morgellons disease, a pattern of dermatologic symptoms very similar, if not identical, to those of delusions of parasitosis, was first described many centuries ago, but has recently been given much attention on the internet and in the mass media. The present authors present a history of Morgellons disease, in addition to which they discuss the potential benefit of using this diagnostic term as a means of building trust and rapport with patients to maximize treatment benefit. The present authors also suggest "meeting the patient halfway" and creating a therapeutic alliance when providing dermatologic treatment by taking their cutaneous symptoms seriously enough to provide both topical ointments as well as antipsychotic medications, which can be therapeutic in these patients.

  8. [Crohn's disease].

    Science.gov (United States)

    Márquez, V R; Sanz, M; Calderaro-di Ruggiero, F; Daza Ramírez, A; Casale Ochoa, E; Márquez Atars, I

    1989-01-01

    A 48 years old male patient was admitted in the Risquez Hospital of Caracas, Venezuela presenting intestinal obstruction. An exploratory laparotomy was performed and two stenotic lesions in the small intestine were found. One of them in the proximal jejunum and the other in distal ileum. Both were resected and terminal jejunum-jejunum anastomosis and terminal jejunum-ileum anastomosis were performed. Pathological diagnosis was Crohn's Disease. Post operative evolution was satisfactory and four years after the patient is well.

  9. Reduced Skin Blistering in Experimental Epidermolysis Bullosa Acquisita After Anti-TNF Treatment

    NARCIS (Netherlands)

    Hirose, Misa; Kasprick, Anika; Beltsiou, Foteini; Dieckhoff, Katharina Schulze; Schulze, Franziska Sophie; Samavedam, Unni K. J. S. R. L.; Hundt, Jennifer E.; Pas, Hendri H.; Jonkman, Marcel F.; Schmidt, Enno; Kalies, Kathrin; Zillikens, Detlef; Ludwig, Ralf J.; Bieber, Katja

    2016-01-01

    Epidermolysis bullosa acquisita (EBA) is a difficult-to-treat subepidermal autoimmune blistering skin disease (AIBD) with circulating and tissue-bound anti-type VII collagen antibodies. Different reports have indicated increased concentration of tumor necrosis factor a (TNF) in the serum and blister

  10. Immunofluorescence serration pattern analysis as a diagnostic criterion in antilaminin-332 mucous membrane pemphigoid : immunopathological findings and clinical experience in 10 Dutch patients

    NARCIS (Netherlands)

    Terra, J. B.; Pas, H. H.; Hertl, M.; Dikkers, F. G.; Kamminga, N.; Jonkman, M. F.

    2011-01-01

    Background Antilaminin-332 mucous membrane pemphigoid (anti-LN-332 MMP) is a chronic subepidermal blistering disease characterized by IgG anti-epidermal basement membrane zone (BMZ) autoantibodies against laminin-332 (LN-332). Patients with anti-LN-332 MMP have an increased relative risk of

  11. Sensitive and specific assays for routine serological diagnosis of epidermolysis bullosa acquisita

    NARCIS (Netherlands)

    Komorowski, Lars; Mueller, Ralf; Vorobyev, Artem; Probst, Christian; Recke, Andreas; Jonkman, Marcel F.; Hashimoto, Takashi; Kim, Soo-Chan; Groves, Richard; Ludwig, Ralf J.; Zillikens, Detlef; Stoecker, Winfried; Schmidt, Enno

    Background: Epidermolysis bullosa acquisita (EBA) is a severe autoimmune subepidermal blistering disease characterized by autoantibodies against the N-terminal collagenous domain (NC1) of type VII collagen (Col VII). Objective: Development of reliable assays for the detection of anti-Col VII-NC1

  12. Heavy Chain Diseases

    Science.gov (United States)

    ... heavy chain produced: Alpha Gamma Mu Alpha Heavy Chain Disease Alpha heavy chain disease (IgA heavy chain ... disease or lead to a remission. Gamma Heavy Chain Disease Gamma heavy chain disease (IgG heavy chain ...

  13. Diabetic Eye Disease

    Science.gov (United States)

    ... Disease, & Other Dental Problems Diabetes & Sexual & Urologic Problems Diabetic Eye Disease What is diabetic eye disease? Diabetic eye disease is a group ... eye diseases that can threaten your sight are Diabetic retinopathy The retina is the inner lining at ...

  14. Chronic Beryllium Disease

    Science.gov (United States)

    ... Science Education & Training Home Conditions Chronic Beryllium Disease Chronic Beryllium Disease Make an Appointment Find a Doctor Ask a ... MD, MSPH, FCCP (February 01, 2016) What is chronic beryllium disease (CBD)? Chronic beryllium disease (CBD) is a disease ...

  15. What Is Vascular Disease?

    Science.gov (United States)

    ... Policy What Is Vascular Disease? What Is Vascular Disease? Vascular disease is any abnormal condition of the blood ... Privacy Policy × Your ticket for the: What Is Vascular Disease? Title What Is Vascular Disease? USD Close Print

  16. The molecular logic of pemphigus and impetigo: the desmoglein story.

    Science.gov (United States)

    Amagai, Masayuki

    2009-10-01

    Desmosomes are intercellular adhesive junctions of epithelial cells that contain two major transmembrane components, desmogleins (Dsg) and desmocollins; these are both cadherin-type cell-cell adhesion molecules. Pemphigus is an autoimmune blistering disease caused by IgG autoantibodies that target Dsg1 and Dsg3 in pemphigus foliaceus and pemphigus vulgaris respectively. Bullous impetigo is a common and highly contagious superficial skin infection caused by Staphylococcus aureus. Staphylococcal scalded skin syndrome (SSSS) is a generalized form of bullous impetigo. The blisters in bullous impetigo and SSSS are induced by exfoliative toxin that specifically cleaves Dsg1. Clinical and microscopic localization of blisters in pemphigus, bullous impetigo and SSSS are logically explained at the molecular level by the desmoglein compensation theory; the similarity of lesions among these diseases is underscored by a similar pathogenesis.

  17. Cardiovascular Disease

    Directory of Open Access Journals (Sweden)

    Cheung Angela

    2004-08-01

    Full Text Available Abstract Health Issue Cardiovascular disease (CVD is the leading cause of death in Canadian women and men. In general, women present with a wider range of symptoms, are more likely to delay seeking medial care and are less likely to be investigated and treated with evidence-based medications, angioplasty or coronary artery bypass graft than men. Key Findings In 1998, 78,964 Canadians died from CVD, almost half (39,197 were women. Acute myocardial infarction, which increases significantly after menopause, was the leading cause of death among women. Cardiovascular disease accounted for 21% of all hospital admissions for Canadian women over age 50 in 1999. Admissions to hospital for ischemic heart disease were more frequent for men, but the mean length of hospital stay was longer for women. Mean blood pressure increases with age in both men and women. After age 65, however, high blood pressure is more common among Canadian women. More than one-third of postmenopausal Canadian women have hypertension. Diabetes increases the mortality and morbidity associated with CVD in women more than it does in men. Depression also contributes to the incidence and recovery from CVD, particularly for women who experience twice the rate of depression as men. Data Gaps and Recommendations CVD needs to be recognized as a woman's health issue given Canadian mortality projections (particularly heart failure. Health professionals should be trained to screen, track, and address CVD risk factors among women, including hypertension, elevated lipid levels, smoking, physical inactivity, depression, diabetes and low socio-economic status.

  18. [MENETRIER DISEASE].

    Science.gov (United States)

    Maev, I V; Andreev, D N; Samsonov, A A

    2015-01-01

    Menetrier disease (MD) is a very rare stomach pathology of unknown etiology characterized by manifest hypertrophy of gastric mucosa. The main causes of MD are believed to be Helicobacter pylori and cytomegalovirus infections. The most frequent symptom is epigastric pain. Also common are peripheral oedema due to hypoalbuminemia and increased permeability of gastric mucosa. The main diagnostic signs of MD include diffusive enhancement of mucosal folds, foveolar hyperplasia and glandular atrophy with a decrease in the number of main and parietal cells, hypoalbuminemia and peripheral oedema. MD being a very rare condition, the optimal methodfor its treatment is unknown.

  19. Cardiovascular disease.

    Science.gov (United States)

    Gavagan, Thomas

    2002-06-01

    The primary care physician is in a position to advise patients on the efficacy of alternative and complementary therapies as they relate to cardiovascular diseases. Anti-oxidant vitamin supplementation has not been shown to be efficacious in decreasing cardiovascular events. N-3 fatty acids appear to be beneficial in secondary prevention of cardiovascular events but their use in primary prevention is not clear. Adoption of vegetable-based diets, including whole grains, can be recommended to decrease cardiovascular events, lower cholesterol and help lower blood pressure. For patients with hypercholesterolemia, cholestin, a red-yeast rice supplement, has been shown to be effective. Garlic supplements may have some mild cholesterol-lowering effect, but this effect is not significant enough to recommend clinically. Herbal therapies with hawthorn and ubiquinone (Q10) are of possible benefit in congestive heart failure. An integrated program of rigorous diet, exercise and stress reduction in motivated patients with cardiovascular disease may have value as an alternative to cardiovascular medications and surgical interventions.

  20. Association between periodontal diseases and systemic diseases

    OpenAIRE

    Patrícia Weidlich; Renata Cimões; Claudio Mendes Pannuti; Rui Vicente Oppermann

    2008-01-01

    Current evidence suggests that periodontal disease may be associated with systemic diseases. This paper reviewed the published data about the relationship between periodontal disease and cardiovascular diseases, adverse pregnancy outcomes, diabetes and respiratory diseases, focusing on studies conducted in the Brazilian population. Only a few studies were found in the literature focusing on Brazilians (3 concerning cardiovascular disease, 7 about pregnancy outcomes, 9 about diabetes and one r...

  1. Alzheimer Disease

    Science.gov (United States)

    Apostolova, Liana G.

    2016-01-01

    ABSTRACT Purpose of Review: This article discusses the recent advances in the diagnosis and treatment of Alzheimer disease (AD). Recent Findings: In recent years, significant advances have been made in the fields of genetics, neuroimaging, clinical diagnosis, and staging of AD. One of the most important recent advances in AD is our ability to visualize amyloid pathology in the living human brain. The newly revised criteria for diagnosis of AD dementia embrace the use for biomarkers as supportive evidence for the underlying pathology. Guidelines for the responsible use of amyloid positron emission tomography (PET) have been developed, and the clinical and economic implications of amyloid PET imaging are actively being explored. Summary: Our improved understanding of the clinical onset, progression, neuroimaging, pathologic features, genetics, and other risk factors for AD impacts the approaches to clinical diagnosis and future therapeutic interventions. PMID:27042902

  2. Hirayama disease

    Directory of Open Access Journals (Sweden)

    Atul T Tayade

    2010-01-01

    Full Text Available A 17-year-old male, who gave up his favorite sport cricket and started playing football, presented with one-year history of slowly progressive atrophic weakness of forearms and hands. Neurological examination showed weak and wasted arms, forearms and hand but no evidence of pyramidal tract, spinothalmic tract and posterior column lesions. Plain cervical spine radiographs showed no abnormal findings. Cervical magnetic resonance imaging (MRI showed asymmetric cord atrophy; images obtained with neck flexed showed the anterior shifting of the posterior wall of the lower cervical dural sac resulting in cord compression. These findings suggest Hirayama disease, a kind of cervical myelopathy related to the flexion movements of the neck.

  3. Vibroacoustic disease.

    Science.gov (United States)

    Branco, N A A Castelo; Alves-Pereira, M

    2004-01-01

    Vibroacoustic disease (VAD) is a whole-body, systemic pathology, characterized by the abnormal proliferation of extra-cellular matrices, and caused by excessive exposure to low frequency noise (LFN). VAD has been observed in LFN-exposed professionals, such as, aircraft technicians, commercial and military pilots and cabin crewmembers, ship machinists, restaurant workers, and disk-jockeys. VAD has also been observed in several populations exposed to environmental LFN. This report summarizes what is known to date on VAD, LFN-induced pathology, and related issues. In 1987, the first autopsy of a deceased VAD patient was performed. The extent of LFN induced damage was overwhelming, and the information obtained is, still today, guiding many of the associated and ongoing research projects. In 1992, LFN-exposed animal models began to be studied in order to gain a deeper knowledge of how tissues respond to this acoustic stressor. In both human and animal models, LFN exposure causes thickening of cardiovascular structures. Indeed, pericardial thickening with no inflammatory process, and in the absence of diastolic dysfunction, is the hallmark of VAD. Depressions, increased irritability and aggressiveness, a tendency for isolation, and decreased cognitive skills are all part of the clinical picture of VAD. LFN is a demonstrated genotoxic agent, inducing an increased frequency of sister chromatid exchanges in both human and animal models. The occurrence of malignancies among LFN-exposed humans, and of metaplastic and displastic appearances in LFN-exposed animals, clearly corroborates the mutagenic outcome of LFN exposure. The inadequacy of currently established legislation regarding noise assessments is a powerful hindrance to scientific advancement. VAD can never be fully recognized as an occupational and environmental pathology unless the agent of disease--LFN--is acknowledged and properly evaluated. The worldwide suffering of LFN-exposed individuals is staggering and it is

  4. Newcastle Disease Virus (PDQ)

    Science.gov (United States)

    ... to Ask about Your Treatment Research Newcastle Disease Virus (PDQ®)–Patient Version Overview Go to Health Professional ... Question 8 ). Questions and Answers About Newcastle Disease Virus What is Newcastle disease virus? Newcastle disease virus ( ...

  5. Kidney Disease Basics

    Science.gov (United States)

    ... Heart Disease Mineral & Bone Disorder What Is Chronic Kidney Disease? Chronic kidney disease (CKD) means your kidneys ... work, be active, and enjoy life. Will my kidneys get better? Kidney disease is often “progressive”, which ...

  6. Living with Kawasaki Disease

    Science.gov (United States)

    ... Research Home / Kawasaki Disease Kawasaki Disease What Is Kawasaki (KAH-wah-SAH-ke) disease is a rare ... condition involves inflammation of the blood vessels. In Kawasaki disease, the walls of the blood vessels throughout ...

  7. Progression of Liver Disease

    Science.gov (United States)

    ... The Progression of Liver Disease Diagnosing Liver Disease – Liver Biopsy and Liver Function Tests Clinical Trials Liver Transplant ... The Progression of Liver Disease Diagnosing Liver Disease: Liver Biopsy and Liver Function Tests Clinical Trials Liver Transplant ...

  8. Poorly Responsive Celiac Disease

    Science.gov (United States)

    ... Celiac Disease › Poorly Responsive Celiac Disease Poorly Responsive Celiac Disease It is estimated that up to 30% of ... continuing to ingest gluten. Causes of Poorly Responsive Celiac Disease Continuing Gluten Ingestion The most common reason for ...

  9. Testing for Kidney Disease

    Science.gov (United States)

    ... hypertension artérielle Heart Disease Mineral & Bone Disorder Chronic Kidney Disease Tests & Diagnosis How can I tell if I have kidney disease? Early kidney disease usually doesn’t have any ...

  10. Fatty Liver Disease

    Science.gov (United States)

    ... two main types: Nonalcoholic fatty liver disease (NAFLD) Alcoholic fatty liver disease, also called alcoholic steatohepatitis What is nonalcoholic ... lead to cirrhosis or liver cancer. What is alcoholic fatty liver disease? Alcoholic fatty liver disease is due to ...

  11. Parkinson's Disease Dementia

    Science.gov (United States)

    ... Find your local chapter Join our online community Parkinson's Disease Dementia Parkinson's disease dementia is an impairment ... disease. About Symptoms Diagnosis Causes & risks Treatments About Parkinson's disease dementia The brain changes caused by Parkinson's ...

  12. Thyroid Disease and Teens

    Science.gov (United States)

    ... Situations Talking to Your Parents - or Other Adults Thyroid Disease KidsHealth > For Teens > Thyroid Disease Print A ... other parts of your body. continue What Is Thyroid Disease? Thyroid disease occurs when the thyroid gland ...

  13. Thyroid Disease (for Parents)

    Science.gov (United States)

    ... Late for the Flu Vaccine? Eating Disorders Arrhythmias Thyroid Disease KidsHealth > For Parents > Thyroid Disease Print A ... many other parts of the body. What Is Thyroid Disease? Thyroid disease is when the thyroid gland ...

  14. About Chronic Kidney Disease

    Science.gov (United States)

    ... Advocacy Donate A to Z Health Guide About Chronic Kidney Disease Tweet Share Print Email Chronic kidney disease (CKD) ... Learn about Glomerular Filtration Rate (GFR) What is chronic kidney disease (CKD)? Chronic kidney disease includes conditions that damage ...

  15. Men and Heart Disease

    Science.gov (United States)

    ... Pressure Salt Cholesterol Million Hearts® WISEWOMAN Men and Heart Disease Fact Sheet Recommend on Facebook Tweet Share Compartir Source: Interactive Atlas of Heart Disease and Stroke Heart Disease Facts in Men Heart disease is the leading ...

  16. [Castleman disease].

    Science.gov (United States)

    Belletti, Gerardo A; Savio, Verónica; Minoldo, Daniel; Caminos, Susana; Yorio, Marcelo A

    2004-01-01

    A 66 years female, who was since last year under astenia, arthralgias, pimply lesions in spread plates and tests showing eritrosedimentation over 100 mm, anemi, leucocitosis with neutrofilia, policlonal hypergammaglobulinemia, slight proteinuria and IgE on 900. This patient was sporadically treated with corticoids. When made the medical consult had lost 34lb., was under anorexy, as well as dyspepsia. Hemoglobyn 6.9 gr/dl, leucocytes 20000/mm3, neutrofils at 90%, proteinogram the same as former, with hypoalbuminemia. She was taking prednisona, 16 mg/day. When examined showed depress of conscience, astenia, and dermic lesions already quoted. 4 cm nonpainful right axillary adenopaty adhered to deep planes. Medulogram with increased iron, hyperegenerative. Ganglionar biopsia: linfoid hyperplasic process linked to inmune response. Toracoabdominal tomography with adenomegalia in torax and retroperitoneo. Skin biopsia: neutrofilic vasculitis. The patient suspends the 16 mg of prednisona and fever as well as generalized adenopatias come up. After laying aside other ethiologies, and understanding as Castleman Multicentric disease, it is started to supply prednisona 1 mg/kg of weight with a clinical and biochemical fast and outstanding response. After 7 months it was progressively suspended the esteroids and 60 days later, the process fall back; for that, corticoids are restarted, with a good evolution. The illness of Castleman although it is not very frequent, it should be considered as differential diagnosis in those clinical cases that are accompanied with important general commitment, linphadenopaties and respons to steroid therapy.

  17. [Fukuhara disease].

    Science.gov (United States)

    Fukuhara, Nobuyoshi

    2008-01-01

    MERRF is an acronym of myoclonus epilepsy associated with ragged-red fibers and was first reported as a new nosological entity belonging to mitochondrial encephalomyopathies in San Remo symposium on "Mitochondrial Pathology" in 1982. MERRF was named Fukuhara disease by Rowland (1983). The first reported patient had been diagnosed as having Ramsay Hunt syndrome associated with Friedreich's ataxia. However, nowadays, the previously reported cases as having Ramsay Hunt syndrome associated with Friedreich's ataxia are regarded as having been suffered from MERRF. The history in establishing the nosological entity of MERRF was described. Patients with MERRF develop myoclonus, epileptic seizures, cerebellar ataxia, dementia, sensorineural hearing disturbance, optic atrophy, muscular wasting, and foot deformities at the advanced stage. Pathological findings show degeneration of the dentate nuclei, globus pallidus, and red nuclei, substantia nigra, inferior olivary nuclei, cerebellar cortex, and spinal cord. The posterior columns, the spinocerebellar tracts, and Clark's columns are degenerating in the spinal cord. The pyramidal tracts never show a severe degeneration as in Friedreich's ataxia. The skeletal muscles show mitochondrial abnormalities histologically and electron microscopically. Clinical features of MERRF are not necessarily uniform in the early stage and muscle biopsy findings are also very mild in some patients with MERRF, necessitating genetic analysis for diagnosis. Most of patients show a point mutation (A --> G) of nt 8344 in mitochondrial DNA.

  18. Castleman disease and associated autoimmune disease.

    Science.gov (United States)

    Muskardin, Theresa W; Peterson, Bruce A; Molitor, Jerry A

    2012-01-01

    Castleman disease can occur in association with autoimmune connective tissue disease and confound the clinical picture, resulting in delayed diagnosis and suboptimal treatment. This review focuses on the intersection of Castleman disease and autoimmunity with an emphasis on shared pathology and mutually beneficial treatments. Targeting CD-20, interleukin-6, and the nuclear factor-κB pathway has shown promise in achieving long-term remission in patients with Castleman disease and associated autoimmune features. Advances in understanding of pathogenic cell types and cytokines in Castleman disease have allowed the development of targeted therapies successful in the treatment of both Castleman disease and associated autoimmune disease.

  19. Associated Autoimmune Diseases

    Science.gov (United States)

    ... commonly associated with celiac disease - Grave’s disease and Hashimoto’s disease. Grave’s Disease: An overactive thyroid. Symptoms may ... feeling too warm, restlessness, insomnia, diarrhea, irritability, palpitations. Hashimoto’s Disease: An underactive thyroid. Symptoms may include weight ...

  20. CD1a, HAM56, CD68 and S-100 are present in lesional skin biopsies from patients affected by autoimmune blistering diseases

    Directory of Open Access Journals (Sweden)

    Ana Maria Abreu Velez

    2014-04-01

    Full Text Available Introduction: Previous research on autoimmune skin blistering diseases (ABD has primarily focused on the humoral immune response; moreover, little attention has been given to the potential role of the antigen presenting cells (APCs in lesional skin. Aim: The purpose of our study was to immunophenotype selected APC in the lesional skin of ABDs, utilizing immunohistochemistry (IHC stains. Materials and Methods: We utilized IHC to stain for dendritic cells (DC, staining with CD1a, CD68, HAM56, and S-100 in lesional skin from 30 patients with endemic pemphigus foliaceus (EPF, 15 controls from the EPF endemic area, and 15 healthy controls from the USA. We also tested archival biopsies from patients with selected ABD, including 30 patients with bullous pemphigoid (BP, 20 with pemphigus vulgaris (PV, 8 with pemphigus foliaceus (PF and 14 with dermatitis herpetiformis (DH and 2 with epidermolysis bullosa acquisita (EBA. Results: Cells stained by CD68, HAM56 and S-100 were present in the majority of the ABD skin biopsies; these cells were located primarily in perivascular infiltrates surrounding dermal vessels subjacent to the blisters. However, these cells were also noted within the blisters, in vessels supplying dermal eccrine glands and ducts, and in areas of dermal endothelial-mesenchymal cell junction-like structures, especially in BP cases. In our CD1a staining, the number and location of positive staining cells varied with each disease, being abundant in most ABD in the epidermis suprajacent to the blisters, or in the epidermis surrounding the blister site if the blister site epidermis was missing. In the control biopsies, most did not display positive IHC staining, with the exception of a few CD1a positive cells in the epidermis Conclusion: Our findings confirm positive IHC staining for APCs in areas of the skin besides the disease blisters. Our findings suggest that the antigen presentation in ABD proceeds in areas distant from the blister site

  1. Alzheimer's Disease: The Death of the Disease.

    Science.gov (United States)

    McBroom, Lynn W.

    1987-01-01

    Alzheimer's disease, a form of dementia in middle-age and older adults is becoming more evident because of growing numbers of older people and better diagnosis and detection methods. Describes the behavioral and physical symptoms of the disease as well as specific suggestions for care of patients with Alzheimer's disease, including dealing with…

  2. Chronic kidney disease and cardiovascular disease

    African Journals Online (AJOL)

    2007-08-16

    Aug 16, 2007 ... disease (CKD). It is unclear how much of the association between kidney and vascular disease results from. • vascular disease causing kidney failure. • kidney failure causing vascular ... patients with CKD, with acute myocardial infarction accounting for 20% of ... failure and death. Valvular calcification may.

  3. Lysosomal storage disease 2 - Pompe's disease

    NARCIS (Netherlands)

    van der Ploeg, Ans T.; Reuser, Arnold J. J.

    2008-01-01

    Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative names for the same metabolic disorder. It is a pan-ethnic autosomal recessive trait characterised by acid alpha-glucosidase deficiency leading to lysosomal glycogen storage. Pompe's disease is also

  4. Understanding cardiovascular disease

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/patientinstructions/000759.htm Understanding cardiovascular disease To use the sharing features on this ... lead to heart attack or stroke. Types of Cardiovascular Disease Coronary heart disease (CHD) is the most ...

  5. Learn About Neuromuscular Disease

    Science.gov (United States)

    ... for MDA Blog Donate Search MDA.org Close Learn About Neuromuscular Disease Muscular dystrophy, ALS and related ... power of a multiple-disease approach, MDA leverages learnings from one disease to accelerate progress in others ...

  6. Heart Disease and Stroke

    Science.gov (United States)

    ... email updates Enter email Submit Heart Disease and Stroke Heart disease and stroke are important health issues ... Stroke risk factors View more Heart Disease and Stroke resources Related information Heart-healthy eating Stress and ...

  7. Pediatric Celiac Disease

    Science.gov (United States)

    ... of Pediatric Gastroenterology and Nutrition Nurses Print Share Celiac Disease Many kids have sensitivities to certain foods, and ... protein found in wheat, rye, and barley. Pediatric Celiac Disease If your child has celiac disease, consuming gluten ...

  8. Pregnancy and Kidney Disease

    Science.gov (United States)

    ... Donate A to Z Health Guide Pregnancy and Kidney Disease Tweet Share Print Email A new baby is ... disease and pregnancy. Can a woman with "mild" kidney disease have a baby? That depends. There is good ...

  9. Chronic Kidney Diseases

    Science.gov (United States)

    ... Weight for Me? Your Teeth Heart Murmurs Chronic Kidney Diseases KidsHealth > For Kids > Chronic Kidney Diseases Print A ... pressure at a healthy level. continue Kinds of Kidney Diseases Like any complicated machine, not all kidneys work ...

  10. Parkinson disease - discharge

    Science.gov (United States)

    Your doctor has told you that you have Parkinson disease . This disease affects the brain and leads ... have you take different medicines to treat your Parkinson disease and many of the problems that may ...

  11. Chronic Kidney Disease (CKD)

    Science.gov (United States)

    ... store Donate Now Give Monthly Give In Honor Chronic kidney disease (CKD) www.kidneyfund.org > Kidney Disease > Chronic Kidney ... treated? Kidney-friendly diet for CKD What causes chronic kidney disease (CKD)? Anyone can get CKD. Some people are ...

  12. Lyme Disease Data

    Science.gov (United States)

    ... Lyme disease FAQ Health care providers Educational materials Data and Statistics Recommend on Facebook Tweet Share Compartir ... sixth most common Nationally Notifiable disease . Lyme Disease Data File To facilitate the public health and research ...

  13. Autoimmune liver disease panel

    Science.gov (United States)

    Liver disease test panel - autoimmune ... Autoimmune disorders are a possible cause of liver disease. The most common of these diseases are autoimmune hepatitis and primary biliary cholangitis (formerly called primary biliary cirrhosis). This group of tests ...

  14. Liver Disease and IBD

    Science.gov (United States)

    ... Home > Resources > Liver Disease and IBD Go Back Liver Disease and IBD Email Print + Share Several complications ... be necessary to make the definitive diagnosis. FATTY LIVER DISEASE (HEPATCI STEATOSIS) This is the most common ...

  15. Eye Disease Simulations

    Science.gov (United States)

    ... USAJobs Home > Eye Health Information > Eye Disease Simulations Eye Disease Simulations Age-Related Macular Degeneration Cataract Diabetic ... information page Back to top Diabetic Retinopathy Diabetic Eye Disease information page Back to top Glaucoma Glaucoma ...

  16. Quiz: Alzheimer's Disease

    Science.gov (United States)

    ... of this page please turn JavaScript on. Feature: Alzheimer's Disease Quiz: Alzheimer's Disease Past Issues / Winter 2015 Table of Contents ... How many Americans over age 65 may have Alzheimer's disease? as many as 5 million as many ...

  17. Pelvic Inflammatory Disease (PID)

    Science.gov (United States)

    Pelvic Inflammatory Disease (PID) - CDC Fact Sheet Untreated sexually transmitted diseases (STDs) can cause pelvic inflammatory disease (PID), a serious condition, in women. 1 in 8 women with a history of ...

  18. Celiac Disease Tests

    Science.gov (United States)

    ... Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer Disease Anemia Angina Ankylosing Spondylitis Anthrax ... Seems to Be on the Rise, Mainly in Elderly: Study Blood markers for the disease rose from ...

  19. Heart Diseases and Disorders

    Science.gov (United States)

    ... Resources Heart Diseases & Disorders Back to Patient Resources Heart Diseases & Disorders Millions of people experience irregular or abnormal ... harmless and happen in healthy people free of heart disease. However, some abnormal heart rhythms can be serious ...

  20. Heart Disease (For Kids)

    Science.gov (United States)

    ... System Taking Care of Your Teeth Bad Breath Heart Disease KidsHealth > For Kids > Heart Disease Print A A ... chest pain, heart attacks, and strokes . What Is Heart Disease? The heart is the center of the cardiovascular ...

  1. Lyme disease (image)

    Science.gov (United States)

    Lyme disease is an acute inflammatory disease characterized by skin changes, joint inflammation and symptoms similar to ... that is caused by the bacterium Borrelia burgdorferi . Lyme disease is transmitted by the bite of a ...

  2. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Anxiety in Parkinson's Disease Expert Briefings: Cognitive Issues: Advice for Parkinson's Care Partners Expert Briefings: Nutrition and Parkinson's Disease NY Nightly News with Chuck ...

  3. Biomarker for Glycogen Storage Diseases

    Science.gov (United States)

    2017-07-03

    Fructose Metabolism, Inborn Errors; Glycogen Storage Disease; Glycogen Storage Disease Type I; Glycogen Storage Disease Type II; Glycogen Storage Disease Type III; Glycogen Storage Disease Type IV; Glycogen Storage Disease Type V; Glycogen Storage Disease Type VI; Glycogen Storage Disease Type VII; Glycogen Storage Disease Type VIII

  4. Disease: H00131 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available splenomegaly, and cardiac valve disease. Inherited metabolic disease; Lysosomal storage disease (MPS6) ARSB;... TITLE ... Current strategies in the management of lysosomal storage diseases. ...

  5. Cardiovascular disease biomarkers across autoimmune diseases.

    Science.gov (United States)

    Ahearn, Joseph; Shields, Kelly J; Liu, Chau-Ching; Manzi, Susan

    2015-11-01

    Cardiovascular disease is increasingly recognized as a major cause of premature mortality among those with autoimmune disorders. There is an urgent need to identify those patients with autoimmune disease who are at risk for CVD so as to optimize therapeutic intervention and ultimately prevention. Accurate identification, monitoring and stratification of such patients will depend upon a panel of biomarkers of cardiovascular disease. This review will discuss some of the most recent biomarkers of cardiovascular diseases in autoimmune disease, including lipid oxidation, imaging biomarkers to characterize coronary calcium, plaque, and intima media thickness, biomarkers of inflammation and activated complement, genetic markers, endothelial biomarkers, and antiphospholipid antibodies. Clinical implementation of these biomarkers will not only enhance patient care but also likely accelerate the pharmaceutical pipeline for targeted intervention to reduce or eliminate cardiovascular disease in the setting of autoimmunity. Copyright © 2015 Elsevier Inc. All rights reserved.

  6. Rheumatic diseases and pregnancy

    African Journals Online (AJOL)

    In rheumatoid arthritis, on the other hand, there is spontaneous improvement in disease symptoms. However, rheumatic diseases and their treatment can have a significant impact on pregnancy outcomes. Poor pregnancy outcomes are largely associated with high disease activity. Pregnant women with rheumatic diseases ...

  7. The integrated disease network.

    Science.gov (United States)

    Sun, Kai; Buchan, Natalie; Larminie, Chris; Pržulj, Nataša

    2014-11-01

    The growing body of transcriptomic, proteomic, metabolomic and genomic data generated from disease states provides a great opportunity to improve our current understanding of the molecular mechanisms driving diseases and shared between diseases. The use of both clinical and molecular phenotypes will lead to better disease understanding and classification. In this study, we set out to gain novel insights into diseases and their relationships by utilising knowledge gained from system-level molecular data. We integrated different types of biological data including genome-wide association studies data, disease-chemical associations, biological pathways and Gene Ontology annotations into an Integrated Disease Network (IDN), a heterogeneous network where nodes are bio-entities and edges between nodes represent their associations. We also introduced a novel disease similarity measure to infer disease-disease associations from the IDN. Our predicted associations were systemically evaluated against the Medical Subject Heading classification and a statistical measure of disease co-occurrence in PubMed. The strong correlation between our predictions and co-occurrence associations indicated the ability of our approach to recover known disease associations. Furthermore, we presented a case study of Crohn's disease. We demonstrated that our approach not only identified well-established connections between Crohn's disease and other diseases, but also revealed new, interesting connections consistent with emerging literature. Our approach also enabled ready access to the knowledge supporting these new connections, making this a powerful approach for exploring connections between diseases.

  8. [Periodontal disease in pediatric rheumatic diseases].

    Science.gov (United States)

    Fabri, Gisele M C; Savioli, Cynthia; Siqueira, José T; Campos, Lucia M; Bonfá, Eloisa; Silva, Clovis A

    2014-01-01

    Gingivitis and periodontitis are immunoinflammatory periodontal diseases characterized by chronic localized infections usually associated with insidious inflammation This narrative review discusses periodontal diseases and mechanisms influencing the immune response and autoimmunity in pediatric rheumatic diseases (PRD), particularly juvenile idiopathic arthritis (JIA), childhood-onset systemic lupus erythematosus (C-SLE) and juvenile dermatomyositis (JDM). Gingivitis was more frequently observed in these diseases compared to health controls, whereas periodontitis was a rare finding. In JIA patients, gingivitis and periodontitis were related to mechanical factors, chronic arthritis with functional disability, dysregulation of the immunoinflammatory response, diet and drugs, mainly corticosteroids and cyclosporine. In C-SLE, gingivitis was associated with longer disease period, high doses of corticosteroids, B-cell hyperactivation and immunoglobulin G elevation. There are scarce data on periodontal diseases in JDM population, and a unique gingival pattern, characterized by gingival erythema, capillary dilation and bush-loop formation, was observed in active patients. In conclusion, gingivitis was the most common periodontal disease in PRD. The observed association with disease activity reinforces the need for future studies to determine if resolution of this complication will influence disease course or severity. Copyright © 2014 Elsevier Editora Ltda. All rights reserved.

  9. Treating neglected tropical diseases

    Directory of Open Access Journals (Sweden)

    Director: Mectizan Donation Program, Georgia, USA. www.mectizan.org

    2013-08-01

    Full Text Available The name neglected tropical diseases (NTDs covers a range of diseases that cause disability, early death, and slowed physical and mental development. The first two in entries Table 1 are diseases that cause blindness. These diseases of neglected and impoverished peoples maintain a cycle of poverty and delayed development of the populations affected. The diseases themselves have been neglected in the push to control malaria, TB and AIDS.

  10. Generalized atrophic benign epidermolysis bullosa - Either 180-kd bullous pemphigoid antigen or laminin-5 deficiency

    NARCIS (Netherlands)

    Jonkman, MF; DeJong, MCJM; Heeres, K; Steijlen, PM; Owaribe, K; Kuster, W; Meurer, M; GeddeDahl, T; Sonnenberg, A; BrucknerTuderman, L

    Background: Generalized atrophic benign epidermolysis bullosa (GABEB) is a form of nonlethal junctional epidermolysis bullosa, clinically characterized by generalized blistering after birth, atrophic healing, and incomplete universal atrophic alopecia nith onset in childhood. Recently, we discovered

  11. Bullous eosinophilic cellulitis (Wells' syndrome) associated with Churg-Strauss syndrome

    NARCIS (Netherlands)

    Schuttelaar, M L A; Jonkman, M F

    We report a patient with Churg-Strauss syndrome (CSS) with asthma, eosinophilia, nasal polyposis and ANCA-associated multisystem vasculitis, who's skin eruption started with erythematous urticarial-plaques followed by haemorrhagic bullae. Histology of the plaques revealed 'flame figures' in the

  12. Serratia marcescens Bullous Cellulitis in a Splenectomized Patient: A Case Report and Review of the Literature.

    Science.gov (United States)

    Fournier, John B; Dabiri, Ganary; Thomas, Vinod; Skowron, Gail; Carson, Polly; Falanga, Vincent

    2016-06-01

    Serratia marcescens is a Gram-negative bacillus belonging to the Enterobacteriaceae family. Cutaneous infection with Serratia is rare, and usually occurs in immunocompromised individuals. Primary cutaneous infections are uncommon, but they are typically severe and are associated with significant morbidity and mortality. The pathogenetic factors leading to S. marcescens infection are not fully understood, but contributing virulence factors include proteases, secreted exotoxins, and the formation of biofilm. We report a case of cellulitis occurring in a splenectomized patient, which led to multiple wound debridements and a transmetatarsal amputation. This dramatic case led us to review the published literature on soft tissue infections caused by S. marcescens. © The Author(s) 2016.

  13. BULLOUS DEGENERATION OF THE LEFT LOWER LOBE IN A HEROIN-ADDICT

    NARCIS (Netherlands)

    SMEENK, FWJM; SERLIE, J; VANDERJAGT, EJ; POSTMUS, PE

    1990-01-01

    A 34 yr old heroin addict was referred because of chest pain caused by air-trapping in a bulla in the left lower lobe. There was a marked difference between the functional residual capacity measured by body-plethysmography and helium dilution. A slow wash-in and wash-out were demonstrated by

  14. The Relationship Between Fatty Liver Disease and Periodontal Disease

    Science.gov (United States)

    2017-03-22

    Periodontitis is a highly prevalent and destructive chronic disease. Numerous studies support an association between periodontal disease and other...systemic diseases ( diabetes , cardiovascular disease, chronic kidney disease, adverse pregnancy outcome, etc.). Non-alcoholic fatty liver disease is a...destruction seen in periodontal disease. The association between the two diseases has never been investigated. A reasonable mechanism in which periodontal

  15. Neuroinflammation in Alzheimer's disease and prion disease

    NARCIS (Netherlands)

    Eikelenboom, P.; Bate, C.; van Gool, W. A.; Hoozemans, J. J. M.; Rozemuller, J. M.; Veerhuis, R.; Williams, A.

    2002-01-01

    Alzheimer's disease (AD) and prion disease are characterized neuropathologically by extracellular deposits of Abeta and PrP amyloid fibrils, respectively. In both disorders, these cerebral amyloid deposits are co-localized with a broad variety of inflammation-related proteins (complement factors,

  16. Coronary Artery Disease - Coronary Heart Disease

    Science.gov (United States)

    ... other risk factors. Overweight and obese adults with risk factors for cardiovascular disease such as high blood pressure, high cholesterol, ... lead to clinically meaningful reductions in some risk factors, larger weight ... of developing cardiovascular disease. Even when glucose levels are under control, ...

  17. Lyme disease associated with Alzheimer's disease.

    Science.gov (United States)

    Meer-Scherrer, Laurence; Chang Loa, Chien; Adelson, Martin E; Mordechai, Eli; Lobrinus, Johannes Alexander; Fallon, Brian A; Tilton, Richard C

    2006-04-01

    This case report discusses a patient with co-occurring neuroborreliosis and Alzheimer's disease (AD). Although no claim is made for causality nor is there objective evidence that spirochetes are involved in AD, co-infection may exacerbate the symptoms of either neuroborreliosis or AD. Much is to be learned about the role of spirochetes in degenerative central nervous system disease.

  18. Mycobacterial disease in patients with rheumatic disease.

    NARCIS (Netherlands)

    Ingen, J. van; Boeree, M.J.; Dekhuijzen, P.N.R.; Soolingen, D van

    2008-01-01

    This Review focuses on the emergence of mycobacterial disease in patients undergoing treatment for rheumatic disease with four new drug classes--tumor necrosis factor (TNF) inhibitors, human interleukin (IL)-1 receptor antagonists, anti-CD20 antibodies and CD4(+) T-cell costimulation

  19. Inflammatory bowel diseases, celiac disease, and bone.

    Science.gov (United States)

    Bianchi, Maria Luisa

    2010-11-01

    The article summarizes the current knowledge on the pathogenesis, clinical aspects and treatment of bone problems in the major inflammatory bowel diseases (Crohn's disease and ulcerative colitis) and celiac disease. It presents the physiological relationship between intestine and bone as well as the alterations determined by disease-disrupted intestinal integrity. Two hypotheses about the pathogenetic mechanisms of bone metabolism derangements and bone loss are discussed: the classical one, that indicates calcium malabsorption as the main culprit, and the new one, that emphasizes the role of inflammation. The article summarizes the available epidemiological data about osteopenia/osteoporosis and fragility fractures in these chronic intestinal diseases and presents the state-of-the-art treatment options. Copyright © 2010 Elsevier Inc. All rights reserved.

  20. Obesity and cardiovascular disease.

    Science.gov (United States)

    Jokinen, E

    2015-02-01

    Cardiovascular disease is the most common cause of mortality in rich countries and today it has the same meaning for health care as the epidemics of past centuries had for medicine in earlier times: 50% of the population in these countries die of cardiovascular disease. The amount of cardiovascular disease is also increasing in the developing countries together with economic growth. By 2015 one in three deaths will globally be due to cardiovascular diseases. Coronary heart disease is a chronic disease that starts in childhood, even if the symptoms first occur in the middle age. The risks for coronary heart disease are well-known: lipid disorders, especially high serum LDL-cholesterol concentration, high blood pressure, tobacco smoking, obesity, diabetes, male gender and physical inactivity. Obesity is both an independent risk factor for cardiovascular disease but is also closely connected with several other risk factors. This review focuses on the connection between overweight or obesity and cardiovascular disease.

  1. Corneal collagen crosslinking in keratoconus and other eye disease

    Directory of Open Access Journals (Sweden)

    Adel Alhayek

    2015-04-01

    Full Text Available Keratoconus is a condition characterized by biomechanical instability of the cornea, presenting in a progressive, asymmetric and bilateral way. Corneal collagen crosslinking (CXL with riboflavin and Ultraviolet-A (UVA is a new technique of corneal tissue strengthening that combines the use of riboflavin as a photo sensitizer and UVA irradiation. Studies showed that CXL was effective in halting the progression of keratoconus over a period of up to four years. The published studies also revealed a reduction of max K readings by more than 2 D, while the postoperative spherical equivalent (SEQ was reduced by an average of more than 1 D and refractive cylinder decreased by about 1 D. The major indication for the use of CXL is to inhibit the progression of corneal ecstasies, such as keratoconus and pellucid marginal degeneration. CXL may also be effective in the treatment and prophylaxis of iatrogenic keratectasia, resulting from excessively aggressive photo ablation. This treatment has been used to treat infectious corneal ulcers with apparent favorable results. Most recent studies demonstrate the beneficial impact of CXL for iatrogenic ecstasies, pellucid marginal degeneration, infectious keratitis, bullous keratopathy and ulcerative keratitis. Several long-term and short-term complications of CXL have been studied and documented. The possibility of a secondary infection after the procedure exists because the patient is subject to epithelial debridement and the application of a soft contact lens. Formation of temporary corneal haze, permanent scars, endothelial damage, treatment failure, sterile infiltrates, bullous keratopathy and herpes reactivation are the other reported complications of this procedure.

  2. Corneal collagen crosslinking in keratoconus and other eye disease

    Science.gov (United States)

    Alhayek, Adel; Lu, Pei-Rong

    2015-01-01

    Keratoconus is a condition characterized by biomechanical instability of the cornea, presenting in a progressive, asymmetric and bilateral way. Corneal collagen crosslinking (CXL) with riboflavin and Ultraviolet-A (UVA) is a new technique of corneal tissue strengthening that combines the use of riboflavin as a photo sensitizer and UVA irradiation. Studies showed that CXL was effective in halting the progression of keratoconus over a period of up to four years. The published studies also revealed a reduction of max K readings by more than 2 D, while the postoperative spherical equivalent (SEQ) was reduced by an average of more than 1 D and refractive cylinder decreased by about 1 D. The major indication for the use of CXL is to inhibit the progression of corneal ecstasies, such as keratoconus and pellucid marginal degeneration. CXL may also be effective in the treatment and prophylaxis of iatrogenic keratectasia, resulting from excessively aggressive photo ablation. This treatment has been used to treat infectious corneal ulcers with apparent favorable results. Most recent studies demonstrate the beneficial impact of CXL for iatrogenic ecstasies, pellucid marginal degeneration, infectious keratitis, bullous keratopathy and ulcerative keratitis. Several long-term and short-term complications of CXL have been studied and documented. The possibility of a secondary infection after the procedure exists because the patient is subject to epithelial debridement and the application of a soft contact lens. Formation of temporary corneal haze, permanent scars, endothelial damage, treatment failure, sterile infiltrates, bullous keratopathy and herpes reactivation are the other reported complications of this procedure. PMID:25938065

  3. Living with Diabetic Heart Disease

    Science.gov (United States)

    ... Home / Diabetic Heart Disease Diabetic Heart Disease What Is The term "diabetic heart ... Web page. What Heart Diseases Are Involved in Diabetic Heart Disease? DHD may include coronary heart disease ( ...

  4. Nonalcoholic Fatty Liver Disease & NASH

    Science.gov (United States)

    ... NASH). Weight loss can reduce fat in the liver, inflammation, and fibrosis. No medicines have been approved to treat NAFLD ... Health Information Diabetes Digestive Diseases Kidney Disease Weight Management Liver Disease Urologic Diseases Endocrine Diseases Diet & Nutrition ...

  5. Vanishing White Matter Disease

    Science.gov (United States)

    ... In Memory Of Obituaries Contact Us Donate Vanishing White Matter Disease What is Vanishing White Matter Disease? ... of the genetic basis of VWM was a great step forward. First of all, it allows genetic ...

  6. APOE Genotyping, Cardiovascular Disease

    Science.gov (United States)

    ... Resources For Health Professionals Subscribe Search APOE Genotyping, Cardiovascular Disease Send Us Your Feedback Choose Topic At ... help understand the role of genetic factors in cardiovascular disease . However, the testing is sometimes used in ...

  7. Parkinson's Disease: Exercise

    Science.gov (United States)

    ... Parkinson's There is a lot to know about Parkinson's disease. Learn about symptoms, how it is diagnosed and ... your quality of life and live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers ...

  8. What Is Parkinson's Disease?

    Science.gov (United States)

    ... Parkinson's There is a lot to know about Parkinson's disease. Learn about symptoms, how it is diagnosed and ... your quality of life and live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers ...

  9. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Parkinson's There is a lot to know about Parkinson's disease. Learn about symptoms, how it is diagnosed and ... your quality of life and live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers ...

  10. Parkinson's Disease Foundation News

    Science.gov (United States)

    ... Parkinson's There is a lot to know about Parkinson's disease. Learn about symptoms, how it is diagnosed and ... your quality of life and live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers ...

  11. Mobility (Parkinson's Disease)

    Science.gov (United States)

    ... Parkinson's There is a lot to know about Parkinson's disease. Learn about symptoms, how it is diagnosed and ... your quality of life and live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers ...

  12. Diagnosis (Parkinson's Disease)

    Science.gov (United States)

    ... Parkinson's There is a lot to know about Parkinson's disease. Learn about symptoms, how it is diagnosed and ... your quality of life and live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers ...

  13. What Is Kawasaki Disease?

    Science.gov (United States)

    ANSWERS by heart Cardiovascular Conditions What is Kawasaki Disease? Kawasaki disease is a children’s illness. It’s also known as Kawasaki syndrome or mucocutaneous lymph node syndrome. About 75 percent of people ...

  14. Heart disease and women

    Science.gov (United States)

    ... 22367731 . Ridker PM, Libby P, Buring JE. Risk markers and the primary prevention of cardiovascular disease. In: Mann DL, Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine . 10th ed. ...

  15. Coronary heart disease

    Science.gov (United States)

    ... 21325087 . Ridker PM, Libby P, Buring JE. Risk markers and the primary prevention of cardiovascular disease. In: Mann DL, Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine . 10th ed. ...

  16. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... There is a lot to know about Parkinson's disease. Learn about symptoms, how it is diagnosed and ... quality of life and live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers ...

  17. Disseminated hydatid disease.

    Science.gov (United States)

    Canda, Aras Emre

    2009-07-01

    Echinococcus infestation is endemic in certain parts of the world. Extrahepatic dissemination of the disease is rare. Successful management of these patients and possible routes for abdominopelvic dissemination of the disease are discussed.

  18. Celiac disease - sprue

    Science.gov (United States)

    ... Gluten intolerance; Gluten-sensitive enteropathy; Gluten-free diet celiac disease ... The exact cause of celiac disease is unknown. The lining of the intestines have small areas called villi which project outward into the opening of the ...

  19. Celiac disease - nutritional considerations

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/002443.htm Celiac disease - nutritional considerations To use the sharing features on this page, please enable JavaScript. Celiac disease is an immune disorder passed down through families. ...

  20. Lewy Body Disease

    Science.gov (United States)

    Lewy body disease is one of the most common causes of dementia in the elderly. Dementia is the loss ... enough to affect normal activities and relationships. Lewy body disease happens when abnormal structures, called Lewy bodies, ...