The Experts below are selected from a list of 42 Experts worldwide ranked by ideXlab platform
Luca Borradori - One of the best experts on this subject based on the ideXlab platform.
-
Autoimmune Subepidermal Bullous Diseases of the Skin and Mucosae: Clinical Features, Diagnosis, and Management
Clinical Reviews in Allergy & Immunology, 2018Co-Authors: Kyle T. Amber, Dedee F. Murrell, Enno Schmidt, Pascal Joly, Luca BorradoriAbstract: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 and immunoserological assays. Management of affected patients is often challenging. We will here review the clinical and immunopathological features as well as the pathophysiology of this group of organ-specific autoimmune diseases. Finally, we will discuss the diagnostic approach and the principles of management in clinical practice.
-
detection of igg autoantibodies in the sera of patients with bullous and Gestational Pemphigoid elisa studies utilizing a baculovirus encoded form of bullous Pemphigoid antigen 2
Journal of Investigative Dermatology, 1998Co-Authors: Claudia Haase, Lioba Budinger, Luca Borradori, Carole Yee, Hans F Merk, Kim B Yancey, Michael HertlAbstract:Autoantibodies against the extracellular domain of bullous Pemphigoid antigen 2 (BPAG2) are thought to play a key role in the pathogenesis of bullous Pemphigoid and their detection may thus be of diagnostic and prognostic value. The aim of this study was to develop a standardized enzyme-linked immunosorbent assay utilizing the baculovirus-derived protein BV13 (extracellular domain of BPAG2 devoid of 68 amino acids at the C terminus linked to glutathione-S-transferase and 6x His tag) to detect BPAG2-specific autoantibodies. For the enzyme-linked immunosorbent assay, nickel agarose affinity-purified BV13 protein was incubated with sera from patients with bullous Pemphigoid (n = 39), Gestational Pemphigoid (n = 10), and pemphigus vulgaris/ pemphigus foliaceus (PV/PF; n = 15), or normal human sera (NHS; n = 18). Nickel affinity-purified proteins from wild-type baculovirus-infected insect cells served as a control. A positive enzyme-linked immunosorbent assay value was defined as reactivity (ODBV13 - ODWT) < mean reactivity + SD of the negative control sera (PV/PF; NHS). Thirty-five of 39 bullous Pemphigoid sera and 10 of 10 Gestational Pemphigoid sera were reactive to BPAG2 compared with none of 15 PV/PF sera and one of 18 NHS (sensitivity, 91.8%; specificity, 97%). Of 16 BPAG2-reactive sera in the enzyme-linked immunosorbent assay, only six were BPAG2-reactive in the western blot, whereas 14 sera immunoprecipitated BPAG2 from extracts of epidermal keratinocytes. The enzyme-linked immunosorbent assay utilizing an eukaryotic BPAG2 protein thus seems to be highly sensitive and specific in the detection of BPAG2-specific antibodies and, hence, may be useful in the diagnosis of bullous autoimmune diseases, such as bullous Pemphigoid and Gestational Pemphigoid.
Kaisa Tasanen - One of the best experts on this subject based on the ideXlab platform.
-
cyclosporine treatment in severe Gestational Pemphigoid
Acta Dermato-venereologica, 2015Co-Authors: Laura Huilaja, Kaarin Makikallio, Katariina Hannulajouppi, Liisa Vakeva, Johanna Hooknikanne, Kaisa TasanenAbstract:Gestational Pemphigoid, a rare autoimmune skin disease typically occurring during pregnancy, is caused by autoantibodies against collagen XVII. Clinically it is characterised by severe itching followed by erythematous and bullous lesions of the skin. Topical or oral glucocorticoids usually relieve symptoms, but in more severe cases systemic immunosuppressive treatments are needed. Data on immunosuppressive medication controlling Gestational Pemphigoid are sparse. We report 3 intractable cases of Gestational Pemphigoid treated with cyclosporine.
-
Gestational Pemphigoid placental morphology and function
Acta Dermato-venereologica, 2013Co-Authors: Laura Huilaja, Kaarin Makikallio, Raija Sormunen, Jouko Lohi, Tiina Hurskainen, Kaisa TasanenAbstract:Gestational Pemphigoid (PG), a very rare pregnancy-associated bullous dermatosis, is associated with adverse pregnancy outcome (miscarriage, preterm delivery, foetal growth restriction). The major antigen in PG is collagen XVII (BP180). PG autoantibodies cross-react with collagen XVII in the skin and have been suggested to cause placental failure. On this basis, we evaluated clinical outcome and morphological and functional placental data of 12 PG pregnancies in Finland during 2002 to 2011. The placental-to-birth weight ratio was abnormal in half of the pregnancies. Ultrastructural analysis of PG placentas showed detachment of basement membranes and undeveloped hemidesmosomes. Ultrasound evaluations of placental function prior to delivery were normal in all but one pregnancy. Three (25%) neonates were delivered preterm after 35 Gestational weeks and one pregnancy was complicated by preeclampsia and severe foetal growth restriction. Neonatal outcome was uneventful in every case. In conclusion, in pregnancies complicated by PG, slight alteration in ultrastructural morphology of the placental basement membrane was detected, but umbilical artery Doppler evaluation indicated no functional placental changes.
Laura Huilaja - One of the best experts on this subject based on the ideXlab platform.
-
cyclosporine treatment in severe Gestational Pemphigoid
Acta Dermato-venereologica, 2015Co-Authors: Laura Huilaja, Kaarin Makikallio, Katariina Hannulajouppi, Liisa Vakeva, Johanna Hooknikanne, Kaisa TasanenAbstract:Gestational Pemphigoid, a rare autoimmune skin disease typically occurring during pregnancy, is caused by autoantibodies against collagen XVII. Clinically it is characterised by severe itching followed by erythematous and bullous lesions of the skin. Topical or oral glucocorticoids usually relieve symptoms, but in more severe cases systemic immunosuppressive treatments are needed. Data on immunosuppressive medication controlling Gestational Pemphigoid are sparse. We report 3 intractable cases of Gestational Pemphigoid treated with cyclosporine.
-
Gestational Pemphigoid placental morphology and function
Acta Dermato-venereologica, 2013Co-Authors: Laura Huilaja, Kaarin Makikallio, Raija Sormunen, Jouko Lohi, Tiina Hurskainen, Kaisa TasanenAbstract:Gestational Pemphigoid (PG), a very rare pregnancy-associated bullous dermatosis, is associated with adverse pregnancy outcome (miscarriage, preterm delivery, foetal growth restriction). The major antigen in PG is collagen XVII (BP180). PG autoantibodies cross-react with collagen XVII in the skin and have been suggested to cause placental failure. On this basis, we evaluated clinical outcome and morphological and functional placental data of 12 PG pregnancies in Finland during 2002 to 2011. The placental-to-birth weight ratio was abnormal in half of the pregnancies. Ultrastructural analysis of PG placentas showed detachment of basement membranes and undeveloped hemidesmosomes. Ultrasound evaluations of placental function prior to delivery were normal in all but one pregnancy. Three (25%) neonates were delivered preterm after 35 Gestational weeks and one pregnancy was complicated by preeclampsia and severe foetal growth restriction. Neonatal outcome was uneventful in every case. In conclusion, in pregnancies complicated by PG, slight alteration in ultrastructural morphology of the placental basement membrane was detected, but umbilical artery Doppler evaluation indicated no functional placental changes.
-
collagen xvii and pathomechanisms of junctional epidermolysis bullosa and Gestational Pemphigoid
2008Co-Authors: Laura HuilajaAbstract:Transmembrane collagen XVII (BP180) is a structural component of hemidesmosomes that connects the two layers of skin. Collagen XVII is associated with both autoimmune and inherited bullous skin diseases. Mutations in collagen XVII gene cause junctional epidermolysis bullosa, and in the diseases of the Pemphigoid group autoantibodies target collagen XVII. In this work, collagen XVII was studied in both junctional epidermolysis bullosa and Gestational Pemphigoid. Two novel glycine substitution mutations were found in the largest collagenous domain of collagen XVII. Analysis of recombinantly produced mutated proteins showed that these novel mutations and previously described glycine substitution mutations decrease the thermal stability of collagen XVII ectodomain. In addition, these mutations were found to cause intracellular accumulation of the mutated proteins and affect the post-translational modifications of collagen XVII. Meanwhile, an in-frame deletion of nine amino acids had no effect on the thermal stability or secretion of the collagen XVII ectodomain. Gestational Pemphigoid autoantigen collagen XVII has been mainly studied in the skin, and its expression and function during pregnancy are so far largely unknown. For the first time, collagen XVII was shown to be expressed by cytotrophoblasts of the first trimester human placenta and by cultured cytotrophoblasts. Transmigration assay of cytotrophoblasts indicated that collagen XVII promotes trophoblast invasion, and may thus have a role in placental formation. In addition, significant amounts of in vivo produced collagen XVII were found in the amniotic fluid throughout pregnancy. Collagen XVII expression was also observed in hemidesmosomes of amniotic membranes and in cells cultured from amniotic fluid. These findings suggest that collagen XVII could have a function, albeit so far unknown, during pregnancy.
Tasanen Kaisa - One of the best experts on this subject based on the ideXlab platform.
-
Cyclosporine Treatment in Severe Gestational Pemphigoid
'Acta Dermato-Venereologica', 2015Co-Authors: Huilaja Laura, Makikallio Kaarin, Hannula-jouppi Katariina, Vakeva Liisa, Hook-nikanne Johanna, Tasanen KaisaAbstract:Gestational Pemphigoid, a rare autoimmune skin disease typically occurring during pregnancy, is caused by autoantibodies against collagen XVII. Clinically it is characterised by severe itching followed by erythematous and bullous lesions of the skin. Topical or oral glucocorticoids usually relieve symptoms, but in more severe cases systemic immunosuppressive treatments are needed. Data on immunosuppressive medication controlling Gestational Pemphigoid are sparse. We report 3 intractable cases of Gestational Pemphigoid treated with cyclosporine.Peer reviewe
Kaarin Makikallio - One of the best experts on this subject based on the ideXlab platform.
-
cyclosporine treatment in severe Gestational Pemphigoid
Acta Dermato-venereologica, 2015Co-Authors: Laura Huilaja, Kaarin Makikallio, Katariina Hannulajouppi, Liisa Vakeva, Johanna Hooknikanne, Kaisa TasanenAbstract:Gestational Pemphigoid, a rare autoimmune skin disease typically occurring during pregnancy, is caused by autoantibodies against collagen XVII. Clinically it is characterised by severe itching followed by erythematous and bullous lesions of the skin. Topical or oral glucocorticoids usually relieve symptoms, but in more severe cases systemic immunosuppressive treatments are needed. Data on immunosuppressive medication controlling Gestational Pemphigoid are sparse. We report 3 intractable cases of Gestational Pemphigoid treated with cyclosporine.
-
Gestational Pemphigoid placental morphology and function
Acta Dermato-venereologica, 2013Co-Authors: Laura Huilaja, Kaarin Makikallio, Raija Sormunen, Jouko Lohi, Tiina Hurskainen, Kaisa TasanenAbstract:Gestational Pemphigoid (PG), a very rare pregnancy-associated bullous dermatosis, is associated with adverse pregnancy outcome (miscarriage, preterm delivery, foetal growth restriction). The major antigen in PG is collagen XVII (BP180). PG autoantibodies cross-react with collagen XVII in the skin and have been suggested to cause placental failure. On this basis, we evaluated clinical outcome and morphological and functional placental data of 12 PG pregnancies in Finland during 2002 to 2011. The placental-to-birth weight ratio was abnormal in half of the pregnancies. Ultrastructural analysis of PG placentas showed detachment of basement membranes and undeveloped hemidesmosomes. Ultrasound evaluations of placental function prior to delivery were normal in all but one pregnancy. Three (25%) neonates were delivered preterm after 35 Gestational weeks and one pregnancy was complicated by preeclampsia and severe foetal growth restriction. Neonatal outcome was uneventful in every case. In conclusion, in pregnancies complicated by PG, slight alteration in ultrastructural morphology of the placental basement membrane was detected, but umbilical artery Doppler evaluation indicated no functional placental changes.