Background:The diagnosis of pemphigus vulgaris and pemphigus foliaceus is usually based on clinical,histological,and immunofluorescence(IF)findings.In recent years,the antigenicprofile of both diseases has been furthe...Background:The diagnosis of pemphigus vulgaris and pemphigus foliaceus is usually based on clinical,histological,and immunofluorescence(IF)findings.In recent years,the antigenicprofile of both diseases has been further defined by immunobiochemical techniques(ELISA,immunoblot,and immunoprecipitation).Methods:A retrospective study of 40 pemphigus patients was performed to determine the clinical,histological,and antigenic profile in patients with pemphigus followed at our Department.Charts review,clinical data,histological land IF findings,and antigenic analysis by ELISA were performed in all patients.Results:In most patients,there was a perfect correlation between the clinical and histological findings and their antigenic profile.In four patients(10%),clinicopathological features and antigenic findings were discordant.Conclusion:The antigenic profiles in pemphigus do not always correlate with the clinical diagnosis.Therefore,clinical and histological features should be considered as the mainstay for the diagnosis of pemphigus.展开更多
Paraneoplastic pemphigus is a life- threatening auto- immune bullous disease associated with neoplasia, generally of lymphoid origin. Immunosuppressive therapy is often disappointing and there are only a few reports o...Paraneoplastic pemphigus is a life- threatening auto- immune bullous disease associated with neoplasia, generally of lymphoid origin. Immunosuppressive therapy is often disappointing and there are only a few reports of patients surviving more than 2 years. These cases were generally associated with benign neoplasms. We report here the case of a patient with paraneoplastic pemphigus associated with non- Hodgkin B- cell lymphoma who had a surprisingly good response to systemic corticosteroids and remains free of lesions more than 3 years later despite progression of her neoplasm.展开更多
Background: Bullous pemphigoid has developed in association with different types of malignant diseases, including a few cases of B-cell lymphoproliferative disorders. However, the paraneoplastic significance of this a...Background: Bullous pemphigoid has developed in association with different types of malignant diseases, including a few cases of B-cell lymphoproliferative disorders. However, the paraneoplastic significance of this association is still controversial. Observations: We describe a 39-year-old patient who presented with a bullous eruption and generalized lymphadenopathy. The results of histologic, immunofluorescence, and antigenic studies confirmed the diagnosis of bullous pemphigoid. The histopathologic and immunophenotypic features of a lymph node biopsy specimen were consistent with mantle cell lymphoma. There was total resolution of the mucocutaneous lesions when mantle cell lymphoma went into remission. Conclusion: The age of the patient and the concomitant appearance and simultaneous remission of both diseases strongly suggest that bullous pemphigoid was a paraneoplastic phenomenon in the present case.展开更多
Background: Cutis laxa is an extremely rare disorder characterized by marked skin laxity. Few cases of cutis laxa have been described worldwide. Clinical presentation and mode of inheritance show considerable heteroge...Background: Cutis laxa is an extremely rare disorder characterized by marked skin laxity. Few cases of cutis laxa have been described worldwide. Clinical presentation and mode of inheritance show considerable heterogeneity; autosomal dominant, autosomal recessive, and X-linked recessive forms have been reported. Only 3 mutations in the elastin gene have been described as the genetic cause of the autosomal dominant form of cutis laxa. Observations: A 45-year-old woman and her 19-year-old son presented with inelastic, loose-hanging, and wrinkled skin that appeared prematurely aged and were clinically diagnosed as having cutis laxa. Mutational analysis of the elastin gene evidenced a novel mutation (2292delC) that predicts a frameshift in the coding region and causes translation to proceed into the 3-untranslated region. This would replace the C-terminal amino acid of the normal elastin protein with a novel sequence. Conclusion: This article is the fourth report of autosomal dominant cutis laxa to appear in the literature in which a mutation in the elastin gene has been correlated with the disease.展开更多
文摘Background:The diagnosis of pemphigus vulgaris and pemphigus foliaceus is usually based on clinical,histological,and immunofluorescence(IF)findings.In recent years,the antigenicprofile of both diseases has been further defined by immunobiochemical techniques(ELISA,immunoblot,and immunoprecipitation).Methods:A retrospective study of 40 pemphigus patients was performed to determine the clinical,histological,and antigenic profile in patients with pemphigus followed at our Department.Charts review,clinical data,histological land IF findings,and antigenic analysis by ELISA were performed in all patients.Results:In most patients,there was a perfect correlation between the clinical and histological findings and their antigenic profile.In four patients(10%),clinicopathological features and antigenic findings were discordant.Conclusion:The antigenic profiles in pemphigus do not always correlate with the clinical diagnosis.Therefore,clinical and histological features should be considered as the mainstay for the diagnosis of pemphigus.
文摘Paraneoplastic pemphigus is a life- threatening auto- immune bullous disease associated with neoplasia, generally of lymphoid origin. Immunosuppressive therapy is often disappointing and there are only a few reports of patients surviving more than 2 years. These cases were generally associated with benign neoplasms. We report here the case of a patient with paraneoplastic pemphigus associated with non- Hodgkin B- cell lymphoma who had a surprisingly good response to systemic corticosteroids and remains free of lesions more than 3 years later despite progression of her neoplasm.
文摘Background: Bullous pemphigoid has developed in association with different types of malignant diseases, including a few cases of B-cell lymphoproliferative disorders. However, the paraneoplastic significance of this association is still controversial. Observations: We describe a 39-year-old patient who presented with a bullous eruption and generalized lymphadenopathy. The results of histologic, immunofluorescence, and antigenic studies confirmed the diagnosis of bullous pemphigoid. The histopathologic and immunophenotypic features of a lymph node biopsy specimen were consistent with mantle cell lymphoma. There was total resolution of the mucocutaneous lesions when mantle cell lymphoma went into remission. Conclusion: The age of the patient and the concomitant appearance and simultaneous remission of both diseases strongly suggest that bullous pemphigoid was a paraneoplastic phenomenon in the present case.
文摘Background: Cutis laxa is an extremely rare disorder characterized by marked skin laxity. Few cases of cutis laxa have been described worldwide. Clinical presentation and mode of inheritance show considerable heterogeneity; autosomal dominant, autosomal recessive, and X-linked recessive forms have been reported. Only 3 mutations in the elastin gene have been described as the genetic cause of the autosomal dominant form of cutis laxa. Observations: A 45-year-old woman and her 19-year-old son presented with inelastic, loose-hanging, and wrinkled skin that appeared prematurely aged and were clinically diagnosed as having cutis laxa. Mutational analysis of the elastin gene evidenced a novel mutation (2292delC) that predicts a frameshift in the coding region and causes translation to proceed into the 3-untranslated region. This would replace the C-terminal amino acid of the normal elastin protein with a novel sequence. Conclusion: This article is the fourth report of autosomal dominant cutis laxa to appear in the literature in which a mutation in the elastin gene has been correlated with the disease.
