A 74-year-old man with past medical history of obesity and type 2 diabetes mellitus was admitted for COVID-19 pneumonia. Due to unfavorable disease progression, ten days later, the patient was admitted to the intensive care unit and intubated, requiring periods of prone position and systemic corticosteroid treatment. During the following weeks, the patient developed several infectious complications successfully managed with systemic antibiotics and herpes simplex infection of the left upper lip, treated with acyclovir 400 mg twice daily for 10 days. Dermatology observation was requested 2 days after acyclovir cessation due to an infiltrative hyperkeratotic erythematous plaque with pustules on the right zygomatic region (see picture 1) that had been noticed 2 days before. Polymerase chain reaction (PCR)-testing of swab samples from the pustules was positive for herpes simplex virus (HSV) 1, with negativity for HSV 2 and for varicella-zoster virus (VZV). Blood and CSF fluid PCR were negative for HSV 1, HSV 2 and VZV. The patient restarted acyclovir (400 mg, thrice daily for 12 days) with significant improvement of the lesion (less infiltration and hyperkeratotic crusts) and negative PCR-testing for HSV1 DNA after treatment cessation (see picture 2). About 2 weeks later the lesion was completely healed leaving a minor atrophic scar.
74岁男性，既往有肥胖和2型糖尿病病史，因COVID-19肺炎入院。由于病情进展不利，10天后，患者住进重症监护室并插管，需要一段时间的俯卧位和全身皮质类固醇治疗。在接下来的几周内，患者出现了几种感染并发症，通过全身抗生素和左上唇的单纯疱疹感染成功地得到了控制，服用阿昔洛韦400mg，每天两次，持续10天。停用阿昔洛韦2天后，因2天前发现右侧颧区出现浸润性角化性红斑斑块伴脓疱(见图1)，要求进行皮肤观察。聚合酶链反应(PCR)-从脓疱中提取的拭子样本检测为单纯疱疹病毒(HSV) 1阳性，HSV 2和水痘-带状疱疹病毒(VZV)阴性。血液和脑脊液PCR检测均为HSV 1、HSV 2和VZV阴性。患者重新使用阿昔洛韦(400mg，每日三次，连用12天)，病变明显改善(浸润减少，角化结痂过度)，停药后HSV1 DNA pcr检测呈阴性(见图2)。约2周后病变完全愈合，留下轻微萎缩性疤痕。
{"title":"Atypical Presentation of Herpes Simplex 1 Virus in a COVID-19 Patient","authors":"M. J. Guimarães, F. Azevedo, C. Lisboa","doi":"10.29021/spdv.79.4.1408","DOIUrl":"https://doi.org/10.29021/spdv.79.4.1408","url":null,"abstract":"A 74-year-old man with past medical history of obesity and type 2 diabetes mellitus was admitted for COVID-19 pneumonia. Due to unfavorable disease progression, ten days later, the patient was admitted to the intensive care unit and intubated, requiring periods of prone position and systemic corticosteroid treatment. During the following weeks, the patient developed several infectious complications successfully managed with systemic antibiotics and herpes simplex infection of the left upper lip, treated with acyclovir 400 mg twice daily for 10 days. Dermatology observation was requested 2 days after acyclovir cessation due to an infiltrative hyperkeratotic erythematous plaque with pustules on the right zygomatic region (see picture 1) that had been noticed 2 days before. Polymerase chain reaction (PCR)-testing of swab samples from the pustules was positive for herpes simplex virus (HSV) 1, with negativity for HSV 2 and for varicella-zoster virus (VZV). Blood and CSF fluid PCR were negative for HSV 1, HSV 2 and VZV. The patient restarted acyclovir (400 mg, thrice daily for 12 days) with significant improvement of the lesion (less infiltration and hyperkeratotic crusts) and negative PCR-testing for HSV1 DNA after treatment cessation (see picture 2). About 2 weeks later the lesion was completely healed leaving a minor atrophic scar.","PeriodicalId":238976,"journal":{"name":"Journal of the Portuguese Society of Dermatology and Venereology","volume":"6 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128654959","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Marcos-Pinto, Â. Roda, L. Soares-de-Almeida, R. Oliveira Soares
Folliculitis decalvans and lichen planopilaris have been considered two distinct cicatricial alopecias. However, biphasic presentation of folliculitis decalvans - lichen planopilaris in the same patient has been recently described, therefore raising the doubt if they are two distinct entities or a continuous phenotypic spectrum.We describe the case of a man who presented clinical, trichoscopic, and histopathological features of both entities. Moreover, we discuss current theories about the pathogenesis of the two diseases and their coexistence in the same patient. The recognition of similar cases allows to optimize the approach and treatment.
{"title":"A New Vision about Folliculitis Decalvans and Lichen Planopilaris: Two Distinct Entities or a Continuous Phenotypic Spectrum?","authors":"A. Marcos-Pinto, Â. Roda, L. Soares-de-Almeida, R. Oliveira Soares","doi":"10.29021/spdv.79.4.1389","DOIUrl":"https://doi.org/10.29021/spdv.79.4.1389","url":null,"abstract":"\u0000 \u0000 \u0000Folliculitis decalvans and lichen planopilaris have been considered two distinct cicatricial alopecias. However, biphasic presentation of folliculitis decalvans - lichen planopilaris in the same patient has been recently described, therefore raising the doubt if they are two distinct entities or a continuous phenotypic spectrum.We describe the case of a man who presented clinical, trichoscopic, and histopathological features of both entities. Moreover, we discuss current theories about the pathogenesis of the two diseases and their coexistence in the same patient. The recognition of similar cases allows to optimize the approach and treatment. \u0000 \u0000 \u0000 \u0000 ","PeriodicalId":238976,"journal":{"name":"Journal of the Portuguese Society of Dermatology and Venereology","volume":"113 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124372916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
J. Reis, A. Machado, A. Coelho, V. Costa, M. Selores
Cutaneous squamous cell carcinoma in situ of the eyelid and periorbital skin malignancies is common and its management is demanding. Surgical excision is considered the first-line treatment, but these techniques have limitations. Topical photodynamic therapy is currently approved for the treatment of squamous cell carcinoma in situ in other areas, but the reports of its use in this sensitive anatomic location area are scarce. Herein we report the case of a 61-year-old-man with extensive periocular Bowen disease that was treated successfully with photodynamic therapy. Photodynamic therapy may be an option as neoadjuvant or curative therapy in selected cases, especially in sensitive anatomic locations where surgery might lead to distortion of the structures or where techniques as micrographically controlled surgery are not available.
{"title":"Topical Photodynamic Therapy as a Treatment Option for Periocular Bowen's Disease: A Case Report","authors":"J. Reis, A. Machado, A. Coelho, V. Costa, M. Selores","doi":"10.29021/spdv.79.4.1397","DOIUrl":"https://doi.org/10.29021/spdv.79.4.1397","url":null,"abstract":"\u0000 \u0000 \u0000Cutaneous squamous cell carcinoma in situ of the eyelid and periorbital skin malignancies is common and its management is demanding. Surgical excision is considered the first-line treatment, but these techniques have limitations. Topical photodynamic therapy is currently approved for the treatment of squamous cell carcinoma in situ in other areas, but the reports of its use in this sensitive anatomic location area are scarce. Herein we report the case of a 61-year-old-man with extensive periocular Bowen disease that was treated successfully with photodynamic therapy. Photodynamic therapy may be an option as neoadjuvant or curative therapy in selected cases, especially in sensitive anatomic locations where surgery might lead to distortion of the structures or where techniques as micrographically controlled surgery are not available. \u0000 \u0000 \u0000","PeriodicalId":238976,"journal":{"name":"Journal of the Portuguese Society of Dermatology and Venereology","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129776388","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
R. Bouceiro-Mendes, M. Mendonça-Sanches, L. Soares-de-Almeida, I. Correia-Fonseca, J. Borges-da-Costa
Introduction: The vulvar area may be affected by many noninfectious conditions with similar clinical appearance, requiring a cutaneous biopsy. Our goal was to characterize the noninfectious vulvar diseases that required a biopsy in a southwestern Europe Central Hospital during a 10-year period. Methods: A retrospective study of all the noninfectious vulvar diseases with histological confirmation diagnosed in our institution was conducted between January 1, 2008 and December 31, 2017. Results: The sample included a total of 323 biopsies from 317 patients, aged between 11 and 98 years (mean age of 54.2 years). A total of 36 vulvar diseases was identified. Neoplastic conditions were the most frequently found, particularly melanotic macules (22.3%). The most frequent malignant tumor was vulvar intraepithelial neoplasia (6.2%) and squamous cell carcinoma (5.6%). The most common dermatosis was lichen sclerosus (12.7%). Conclusion: Neoplasms were the most frequently diagnosed conditions affecting the vulvar area that required a biopsy. Ruling out malignancy was also the main reason to perform a biopsy. This study highlights the variety of noninfectious diseases that may affect the vulva and require a biopsy. Since vulvar diseases may be serious and carry high levels of patient distress a correct understanding of these conditions is crucial.
{"title":"Vulvar Diseases that Required a Biopsy: A Retrospective Study","authors":"R. Bouceiro-Mendes, M. Mendonça-Sanches, L. Soares-de-Almeida, I. Correia-Fonseca, J. Borges-da-Costa","doi":"10.29021/spdv.79.4.1411","DOIUrl":"https://doi.org/10.29021/spdv.79.4.1411","url":null,"abstract":"\u0000 \u0000 \u0000Introduction: The vulvar area may be affected by many noninfectious conditions with similar clinical appearance, requiring a cutaneous biopsy. Our goal was to characterize the noninfectious vulvar diseases that required a biopsy in a southwestern Europe Central Hospital during a 10-year period. \u0000Methods: A retrospective study of all the noninfectious vulvar diseases with histological confirmation diagnosed in our institution was conducted between January 1, 2008 and December 31, 2017. \u0000Results: The sample included a total of 323 biopsies from 317 patients, aged between 11 and 98 years (mean age of 54.2 years). A total of 36 vulvar diseases was identified. Neoplastic conditions were the most frequently found, particularly melanotic macules (22.3%). The most frequent malignant tumor was vulvar intraepithelial neoplasia (6.2%) and squamous cell carcinoma (5.6%). The most common dermatosis was lichen sclerosus (12.7%). \u0000Conclusion: Neoplasms were the most frequently diagnosed conditions affecting the vulvar area that required a biopsy. Ruling out malignancy was also the main reason to perform a biopsy. This study highlights the variety of noninfectious diseases that may affect the vulva and require a biopsy. Since vulvar diseases may be serious and carry high levels of patient distress a correct understanding of these conditions is crucial. \u0000 \u0000 \u0000","PeriodicalId":238976,"journal":{"name":"Journal of the Portuguese Society of Dermatology and Venereology","volume":"48 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114893789","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Fernanda J. Bauer, L. Logullo, Elizabeth M. Heins, Sandra L. M. Dinato
Introdução: Micoses superficiais são infecções fúngicas causadas principalmente por dermatófitos, leveduras e fungos filamentosos não dermatófitos, que acometem as camadas mais superficiais da pele e seus anexos. Apresentam alta prevalência em todo o mundo.O objectivo deste estudo é avaliar a epidemiologia das micoses superficiais, assim como o índice de concordância entre o exame micológico direto e a cultura para fungos. Métodos: Trata-se de estudo retrospectivo realizado no ambulatório de Dermatologia de hospital terciário, num intervalo de 6 anos. Para a elu- cidação diagnóstica, foi realizada colheita de material através de raspagem ou curetagem, para posterior análise por exame micológico direto e cultura para fungos. Resultados: Foram incluídas 439 amostras de lesões suspeitas de micoses superficiais de 420 pacientes, 268 do sexo feminino (63,8% doentes) com a média de idade de 45,7 anos (dos 3 meses aos 95 anos), com o maior número de casos das unhas (43,4%) e pele glabra (24,1%). Em geral, o fungo mais encontrado na cultura foi o Trichophyton rubrum; no entanto, não houve esta concordância em todos os locais da pele estudados. O exame micológico direto apresentou associação significativamente estatística com a cultura (K=0,955), se eliminadas os casos em que houve contaminação da cultura. Conclusão: O uso do exame micológico direto e da cultura, como métodos diagnósticos na Dermatologia, é uma opção que fornece resultados satisfatórios e de baixo custo, favorecendo doentes e sistema de saúde. Este estudo permitiu descrever o perfil epidemiológico dos pacientes de um centro de Dermatologia de referência, com dados relevantes em relação ao nosso objetivo. A concordância entre o exame micológico direto e a cultura mostrou a confiabilidade dos métodos.
{"title":"Epidemiologia e Avaliação de Métodos Diagnósticos em Micoses Superficiais em Serviço de Dermatologia de Hospital Público em Santos, Brasil","authors":"Fernanda J. Bauer, L. Logullo, Elizabeth M. Heins, Sandra L. M. Dinato","doi":"10.29021/spdv.79.4.1413","DOIUrl":"https://doi.org/10.29021/spdv.79.4.1413","url":null,"abstract":"\u0000 \u0000 \u0000Introdução: Micoses superficiais são infecções fúngicas causadas principalmente por dermatófitos, leveduras e fungos filamentosos não dermatófitos, que acometem as camadas mais superficiais da pele e seus anexos. Apresentam alta prevalência em todo o mundo.O objectivo deste estudo é avaliar a epidemiologia das micoses superficiais, assim como o índice de concordância entre o exame micológico direto e a cultura para fungos. \u0000Métodos: Trata-se de estudo retrospectivo realizado no ambulatório de Dermatologia de hospital terciário, num intervalo de 6 anos. Para a elu- cidação diagnóstica, foi realizada colheita de material através de raspagem ou curetagem, para posterior análise por exame micológico direto e cultura para fungos. \u0000Resultados: Foram incluídas 439 amostras de lesões suspeitas de micoses superficiais de 420 pacientes, 268 do sexo feminino (63,8% doentes) com a média de idade de 45,7 anos (dos 3 meses aos 95 anos), com o maior número de casos das unhas (43,4%) e pele glabra (24,1%). Em geral, o fungo mais encontrado na cultura foi o Trichophyton rubrum; no entanto, não houve esta concordância em todos os locais da pele estudados. O exame micológico direto apresentou associação significativamente estatística com a cultura (K=0,955), se eliminadas os casos em que houve contaminação da cultura. \u0000Conclusão: O uso do exame micológico direto e da cultura, como métodos diagnósticos na Dermatologia, é uma opção que fornece resultados satisfatórios e de baixo custo, favorecendo doentes e sistema de saúde. Este estudo permitiu descrever o perfil epidemiológico dos pacientes de um centro de Dermatologia de referência, com dados relevantes em relação ao nosso objetivo. A concordância entre o exame micológico direto e a cultura mostrou a confiabilidade dos métodos. \u0000 \u0000 \u0000","PeriodicalId":238976,"journal":{"name":"Journal of the Portuguese Society of Dermatology and Venereology","volume":"84 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124126422","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Asymptomatic Nodules in a Child","authors":"R. Caldas, M. J. Guimarães, J. Pardal, J. Gomes","doi":"10.29021/spdv.79.4.1399","DOIUrl":"https://doi.org/10.29021/spdv.79.4.1399","url":null,"abstract":"","PeriodicalId":238976,"journal":{"name":"Journal of the Portuguese Society of Dermatology and Venereology","volume":"70 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116143765","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nicole S. Aranha, José M. F. L. Moço, Cristiana A. Sassamoto, Karla C. K. Prigenzi
A criptococose é uma infecção sistémica causada por Cryptococcus neoformans, levedura oportunista encapsulada. Esta infeção ocorre principalmente em indivíduos imunocomprometidos e os sintomas variam de acordo com a integridade do sistema imunológico. A criptococose cutânea afeta aproximadamente 20% dos pacientes com criptococose disseminada, mas a criptococose cutânea primária (PCC) sem infecção sistémica é rara. Um paciente do sexo masculino de 76 anos, com doença pulmonar obstrutiva crónica, hipertensão arterial e dislipidemia, apresentou-se com placa cutânea inflamatória violácea com bolhas que progrediu apesar de ceftriaxone endovenoso por 7 dias, sem sucesso. A biópsia incisional revelou o diagnóstico histopatológico de criptococose cutânea. As lesões resolveram após tratamento com fluconazol 300 mg/dia durante 3 meses. Não se detectou doença sistémica e não havia qualquer evidência de imunossupressão. Enfatiza-se a importância da inclusão da criptococose cutânea no diagnóstico diferencial das lesões cutâneas, mesmo em pacientes sem terapia imunossupressora. As manifestações cutâneas da infecção podem ser o primeiro indício para uma doença disseminada, pelo que o seu reconhecimento precoce é fundamental para um bom prognóstico.
{"title":"Criptococose Cutânea Primária em Paciente Imunocompetente: Um Relato de Caso","authors":"Nicole S. Aranha, José M. F. L. Moço, Cristiana A. Sassamoto, Karla C. K. Prigenzi","doi":"10.29021/spdv.79.4.1410","DOIUrl":"https://doi.org/10.29021/spdv.79.4.1410","url":null,"abstract":"\u0000 \u0000 \u0000A criptococose é uma infecção sistémica causada por Cryptococcus neoformans, levedura oportunista encapsulada. Esta infeção ocorre principalmente em indivíduos imunocomprometidos e os sintomas variam de acordo com a integridade do sistema imunológico. A criptococose cutânea afeta aproximadamente 20% dos pacientes com criptococose disseminada, mas a criptococose cutânea primária (PCC) sem infecção sistémica é rara. \u0000Um paciente do sexo masculino de 76 anos, com doença pulmonar obstrutiva crónica, hipertensão arterial e dislipidemia, apresentou-se com placa cutânea inflamatória violácea com bolhas que progrediu apesar de ceftriaxone endovenoso por 7 dias, sem sucesso. A biópsia incisional revelou o diagnóstico histopatológico de criptococose cutânea. As lesões resolveram após tratamento com fluconazol 300 mg/dia durante 3 meses. Não se detectou doença sistémica e não havia qualquer evidência de imunossupressão. \u0000Enfatiza-se a importância da inclusão da criptococose cutânea no diagnóstico diferencial das lesões cutâneas, mesmo em pacientes sem terapia imunossupressora. As manifestações cutâneas da infecção podem ser o primeiro indício para uma doença disseminada, pelo que o seu reconhecimento precoce é fundamental para um bom prognóstico. \u0000 \u0000 \u0000","PeriodicalId":238976,"journal":{"name":"Journal of the Portuguese Society of Dermatology and Venereology","volume":"179 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123038038","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A síndrome de pele sensível (SPS) pode ser definida pela ocorrência de sensações desagradáveis como picada, ardor, dor ou prurido após a exposição da pele a estímulos físicos, químicos ou térmicos que normalmente não causariam estes sintomas. Com uma prevalência estimada de até 50% nas mulheres e até 30% nos homens, esta entidade pode ser diagnosticada com recurso a questionários e a testes de reatividade cutânea. A fisiopatologia parece envolver uma diminuição da função da barreira epidérmica e uma disfunção neurossensorial e imunológica. O tratamento inclui medidas gerais, como evicção de fatores desencadeantes, redução do número de cosméticos aplicados e utilização de hidratantes com biocompatibilidade. Tratamentos dirigidos às vias de sinalização afetadas na doença, como inibidores da TRPV1, estão a ser desenvolvidos.
{"title":"Síndrome de Pele Sensível: Revisão da Literatura de uma Entidade Emergente","authors":"Frederico Bonito, Diogo Cerejeira, A. Monteiro","doi":"10.29021/spdv.79.4.1417","DOIUrl":"https://doi.org/10.29021/spdv.79.4.1417","url":null,"abstract":"\u0000 \u0000 \u0000A síndrome de pele sensível (SPS) pode ser definida pela ocorrência de sensações desagradáveis como picada, ardor, dor ou prurido após a exposição da pele a estímulos físicos, químicos ou térmicos que normalmente não causariam estes sintomas. Com uma prevalência estimada de até 50% nas mulheres e até 30% nos homens, esta entidade pode ser diagnosticada com recurso a questionários e a testes de reatividade cutânea. A fisiopatologia parece envolver uma diminuição da função da barreira epidérmica e uma disfunção neurossensorial e imunológica. O tratamento inclui medidas gerais, como evicção de fatores desencadeantes, redução do número de cosméticos aplicados e utilização de hidratantes com biocompatibilidade. Tratamentos dirigidos às vias de sinalização afetadas na doença, como inibidores da TRPV1, estão a ser desenvolvidos. \u0000 \u0000 \u0000","PeriodicalId":238976,"journal":{"name":"Journal of the Portuguese Society of Dermatology and Venereology","volume":"53 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126508833","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A previously healthy 20-year-old female presented with extensive retiform purpura located at the face, upper and lower limbs, one week after an episode of acute tonsillitis. Despite the exuberance of the cutaneous findings and progression to skin necrosis she had no accompanying symptoms. Laboratory investigation revealed a heterozygous protein C mutation (exon 9, c.1332G> C, p.Trp444Cys), accounting for a partial deficiency of this anticoagulant protein. The patient was started on broad spectrum antibiotics, anticoagulation and systemic corticosteroids, with no lesional progression and complete resolution of cutaneous ulceration within 6 months. This is a singular case of purpura fulminans, since two different causative factors precipitated the events. The previous tonsillitis reported by the patient is significant, because the serum concentration of protein S may also decrease after an infectious event - post-infectious purpura fulminans. This case illustrates that purpura fulminans due to autoantibodies against protein S, although rare, should be considered, especially in the absence of a severe acute infection. It also illustrates how in a given patient different independent factors can act simultaneously, triggering potentially devastating clinical scenarios.
{"title":"Purpura Fulminans in a 20-Year-Old Female","authors":"F. Alves, M. Brites, I. Coutinho","doi":"10.29021/spdv.79.4.1385","DOIUrl":"https://doi.org/10.29021/spdv.79.4.1385","url":null,"abstract":"\u0000 \u0000 \u0000A previously healthy 20-year-old female presented with extensive retiform purpura located at the face, upper and lower limbs, one week after an episode of acute tonsillitis. Despite the exuberance of the cutaneous findings and progression to skin necrosis she had no accompanying symptoms. Laboratory investigation revealed a heterozygous protein C mutation (exon 9, c.1332G> C, p.Trp444Cys), accounting for a partial deficiency of this anticoagulant protein. The patient was started on broad spectrum antibiotics, anticoagulation and systemic corticosteroids, with no lesional progression and complete resolution of cutaneous ulceration within 6 months. \u0000This is a singular case of purpura fulminans, since two different causative factors precipitated the events. The previous tonsillitis reported by the patient is significant, because the serum concentration of protein S may also decrease after an infectious event - post-infectious purpura fulminans. This case illustrates that purpura fulminans due to autoantibodies against protein S, although rare, should be considered, especially in the absence of a severe acute infection. It also illustrates how in a given patient different independent factors can act simultaneously, triggering potentially devastating clinical scenarios. \u0000 \u0000 \u0000","PeriodicalId":238976,"journal":{"name":"Journal of the Portuguese Society of Dermatology and Venereology","volume":"59 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114173225","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
S. Antunes-Duarte, M. Mendonça-Sanches, R. Pimenta, A. Coutinho, C. Silveira, L. Soares-de-Almeida, P. Filipe
Hailey-Hailey disease (HHD) is a rare autosomal dominant acantholytic dermatosis. It is characterized by a recurrent eruption of vesicles, erosions, and scaly erythematous plaques involving intertriginous areas and first occurring after puberty, mostly in the third or fourth decade. In 2000, mutations in the ATP2C1 gene on band 3q22.1, encoding the secretory pathway Ca2+/Mn2+-ATPase protein 1(hSPCA1), have been identified as the cause of HHD. We report the identification of two novel mutations of ATP2C1 gene in two Portuguese patients, which expands the spectrum of ATP2C1 mutations underlying HHD and provides useful information for genetic counseling.
{"title":"Two Novel ATP2C1 Mutations in Portuguese Patients with Hailey-Hailey Disease","authors":"S. Antunes-Duarte, M. Mendonça-Sanches, R. Pimenta, A. Coutinho, C. Silveira, L. Soares-de-Almeida, P. Filipe","doi":"10.29021/spdv.79.4.1409","DOIUrl":"https://doi.org/10.29021/spdv.79.4.1409","url":null,"abstract":"\u0000 \u0000 \u0000Hailey-Hailey disease (HHD) is a rare autosomal dominant acantholytic dermatosis. It is characterized by a recurrent eruption of vesicles, erosions, and scaly erythematous plaques involving intertriginous areas and first occurring after puberty, mostly in the third or fourth decade. In 2000, mutations in the ATP2C1 gene on band 3q22.1, encoding the secretory pathway Ca2+/Mn2+-ATPase protein 1(hSPCA1), have been identified as the cause of HHD. We report the identification of two novel mutations of ATP2C1 gene in two Portuguese patients, which expands the spectrum of ATP2C1 mutations underlying HHD and provides useful information for genetic counseling. \u0000 \u0000 \u0000","PeriodicalId":238976,"journal":{"name":"Journal of the Portuguese Society of Dermatology and Venereology","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130207582","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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