Abdullah Alakeel, Khalid Nabil Nagshabandi, Abdulaziz Alsalhi
Chronic mucocutaneous candidiasis (CMC) is a primary immunodeficiency condition caused by a genetic abnormality that increases the risk of recurrent and persistent skin, nail and mucous membrane infections with Candida species, typically Candida albicans. Signal transducer and activator of transcription 1 (STAT 1) gene mutation is a genetic trigger that causes CMC, which increases the risk of infections, multisystem disorders and cancer susceptibility. We describe the first case of a Saudi female patient with clinical features of CMC with an underlying (STAT 1) gene mutation.
慢性皮肤粘膜念珠菌病（CMC）是一种原发性免疫缺陷病，由基因异常引起，会增加皮肤、指甲和粘膜反复持续感染念珠菌（通常是白色念珠菌）的风险。信号转导和激活转录 1（STAT 1）基因突变是导致 CMC 的遗传诱因，会增加感染、多系统疾病和癌症易感性的风险。我们描述了第一例具有 CMC 临床特征并伴有 STAT 1 基因突变的沙特籍女性患者。
{"title":"Chronic mucocutaneous candidiasis due to signal transducer and activator of transcription 1 mutation in a Saudi patient: a case report","authors":"Abdullah Alakeel, Khalid Nabil Nagshabandi, Abdulaziz Alsalhi","doi":"10.4081/dr.2024.9939","DOIUrl":"https://doi.org/10.4081/dr.2024.9939","url":null,"abstract":"Chronic mucocutaneous candidiasis (CMC) is a primary immunodeficiency condition caused by a genetic abnormality that increases the risk of recurrent and persistent skin, nail and mucous membrane infections with Candida species, typically Candida albicans. Signal transducer and activator of transcription 1 (STAT 1) gene mutation is a genetic trigger that causes CMC, which increases the risk of infections, multisystem disorders and cancer susceptibility. We describe the first case of a Saudi female patient with clinical features of CMC with an underlying (STAT 1) gene mutation.","PeriodicalId":11049,"journal":{"name":"Dermatology Reports","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141683327","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}
Pub Date : 2024-06-18eCollection Date: 2024-06-14DOI: 10.4081/dr.2024.9751
Thilo Gambichler, Rita Mansour, Tobias Rothoeft, Enno Schmidt, Martin Doerler, Laura Susok
{"title":"Association of recalcitrant scabies infestation and bullous pemphigoid in an infant.","authors":"Thilo Gambichler, Rita Mansour, Tobias Rothoeft, Enno Schmidt, Martin Doerler, Laura Susok","doi":"10.4081/dr.2024.9751","DOIUrl":"10.4081/dr.2024.9751","url":null,"abstract":"","PeriodicalId":11049,"journal":{"name":"Dermatology Reports","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11216140/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141491236","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Epstein Barr Virus (EBV) is associated both solid (nasopharyngeal carcinoma, non-nasopharyngeal lymphoepithelioma- like carcinoma, gastric carcinoma, leiomyosarcoma) and hematolymphoid malignancies, some of the latter, however, spanning over a spectrum ranging from reactive and self-limiting to severe and life-threatening conditions. This review will focus on the disorder most commonly involving the skin, namely: EBVpositive mucocutaneous ulcer; lymphomatoid granulomatosis; EBV-positive diffuse large B cell lymphoma; plasmablastic lymphoma; post-transplant lymphoproliferative disorder; extranodal NK/T cell lymphoma, nasal type; angoimmunoblastic T cell lymphoma; severe mosquito bite allergy; hydroa vacciniformelike lymphoproliferative disorder. Given the uncommon occurrence of all these infiltrates in the skin, multidisciplinary approach, as well as referral to tertiary care centers are always advisable.
{"title":"Epstein-Barr virus-related lymphoproliferative disorders of the skin","authors":"Gerardo Ferrara, Alberto Gualandi","doi":"10.4081/dr.2024.9916","DOIUrl":"https://doi.org/10.4081/dr.2024.9916","url":null,"abstract":"Epstein Barr Virus (EBV) is associated both solid (nasopharyngeal carcinoma, non-nasopharyngeal lymphoepithelioma- like carcinoma, gastric carcinoma, leiomyosarcoma) and hematolymphoid malignancies, some of the latter, however, spanning over a spectrum ranging from reactive and self-limiting to severe and life-threatening conditions. This review will focus on the disorder most commonly involving the skin, namely: EBVpositive mucocutaneous ulcer; lymphomatoid granulomatosis; EBV-positive diffuse large B cell lymphoma; plasmablastic lymphoma; post-transplant lymphoproliferative disorder; extranodal NK/T cell lymphoma, nasal type; angoimmunoblastic T cell lymphoma; severe mosquito bite allergy; hydroa vacciniformelike lymphoproliferative disorder. Given the uncommon occurrence of all these infiltrates in the skin, multidisciplinary approach, as well as referral to tertiary care centers are always advisable.","PeriodicalId":11049,"journal":{"name":"Dermatology Reports","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141003893","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}
Primary cutaneous lymphomas are a heterogeneous group of neoplastic diseases in which dermatological examination plays the pivotal role toward a management which must be multidisciplinary by definition [...].
{"title":"The multidisciplinary approach in primary cutaneous lymphomas","authors":"C. Massone, Gerardo Ferrara","doi":"10.4081/dr.2024.10037","DOIUrl":"https://doi.org/10.4081/dr.2024.10037","url":null,"abstract":"Primary cutaneous lymphomas are a heterogeneous group of neoplastic diseases in which dermatological examination plays the pivotal role toward a management which must be multidisciplinary by definition [...].","PeriodicalId":11049,"journal":{"name":"Dermatology Reports","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141004166","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}
Rare subtypes of cutaneous T-cell lymphomas (CTCL) include four entities, primary cutaneous γδ T-cell lymphoma, primary cutaneous CD8+ aggressive epidermotropic cytotoxic T-cell lymphoma, and primary cutaneous CD4+ small/medium T-cell lymphoproliferative disorders, primary cutaneous acral CD8+ T-cell lymphoma, which were previously considered provisional and are now included in the new 5th World Health Organization classification of hematolymphoid tumors as distinct entities. An updated summary of the clinical, histological, and genomic characteristics of these uncommon CTCL subtypes is given in this review, with a focus on the growing body of knowledge regarding their classification and possible treatment strategies.
{"title":"Update on primary cutaneous T-cell lymphomas rare subtypes","authors":"S. Alberti-Violetti, Emilio Berti","doi":"10.4081/dr.2024.9961","DOIUrl":"https://doi.org/10.4081/dr.2024.9961","url":null,"abstract":"Rare subtypes of cutaneous T-cell lymphomas (CTCL) include four entities, primary cutaneous γδ T-cell lymphoma, primary cutaneous CD8+ aggressive epidermotropic cytotoxic T-cell lymphoma, and primary cutaneous CD4+ small/medium T-cell lymphoproliferative disorders, primary cutaneous acral CD8+ T-cell lymphoma, which were previously considered provisional and are now included in the new 5th World Health Organization classification of hematolymphoid tumors as distinct entities. An updated summary of the clinical, histological, and genomic characteristics of these uncommon CTCL subtypes is given in this review, with a focus on the growing body of knowledge regarding their classification and possible treatment strategies.","PeriodicalId":11049,"journal":{"name":"Dermatology Reports","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141002342","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}
Vieri Grandi, Virginia Alba Colantuono, Nicola Pimpinelli
The most common and widespread type of cutaneous T-cell lymphoma is mycosis fungoides (MF), and it has a multiphasic clinical and biological course, with early stages being indolent for many years and later stages being faster and more aggressive. The clinical stage has a significant impact on the management and course of treatment: in the early stages, skin-directed therapies (SDT) plus/or biologic response modifiers (BRM); in the later stages, radiotherapy and/or systemic therapies. Even though national and international societies and groups periodically update their clinical recommendations, there is still no universally accepted approach. This paper reviews and discusses the various SDT and BRM options, either separately or in combination.
{"title":"Skin-directed therapy and biologic response modifiers in mycosis fungoides","authors":"Vieri Grandi, Virginia Alba Colantuono, Nicola Pimpinelli","doi":"10.4081/dr.2024.9926","DOIUrl":"https://doi.org/10.4081/dr.2024.9926","url":null,"abstract":"The most common and widespread type of cutaneous T-cell lymphoma is mycosis fungoides (MF), and it has a multiphasic clinical and biological course, with early stages being indolent for many years and later stages being faster and more aggressive. The clinical stage has a significant impact on the management and course of treatment: in the early stages, skin-directed therapies (SDT) plus/or biologic response modifiers (BRM); in the later stages, radiotherapy and/or systemic therapies. Even though national and international societies and groups periodically update their clinical recommendations, there is still no universally accepted approach. This paper reviews and discusses the various SDT and BRM options, either separately or in combination.","PeriodicalId":11049,"journal":{"name":"Dermatology Reports","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141002298","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}
Mycosis fungoides (MF) and Sézary syndrome (SS) are the most prevalent non-Hodgkin lymphomas that comprise cutaneous T-cell lymphomas (CTCL), accounting for more than 70% of cases. Following the Tumor Lymph nodes Metastasis Blood system, disease staging is carried out, and within ten years, about thirty percent of patients in the early stages will have advanced disease. Plaques, folliculotropism, and age over 60 are risk factors for progression. A 5-year survival rate of less than 20% is associated with LCT in MF. Treatment requires an interdisciplinary approach; skindirected therapies are available for early stages of the disease, but there are no curative options for advanced stages of the disease other than allogeneic stem cell transplantation. Because of their severe symptoms and poor treatment efficacy, patients in advanced stages have a lower quality of life and a lower chance of survival. In patients with CD30-expressing CTCL, Brentuximab Vedotin has demonstrated better response rates and progression-free survival (PFS); in advanced SS, mogamulizumab has significantly increased PFS. These findings emphasize the need to standardize prognostic factors and improve CTCL treatment.
{"title":"Systemic treatments with monoclonal antibodies in mycosis fungoides and Sézary syndrome","authors":"Adalberto Ibatici, Emanuela Angelucci, C. Massone","doi":"10.4081/dr.2024.9970","DOIUrl":"https://doi.org/10.4081/dr.2024.9970","url":null,"abstract":"Mycosis fungoides (MF) and Sézary syndrome (SS) are the most prevalent non-Hodgkin lymphomas that comprise cutaneous T-cell lymphomas (CTCL), accounting for more than 70% of cases. Following the Tumor Lymph nodes Metastasis Blood system, disease staging is carried out, and within ten years, about thirty percent of patients in the early stages will have advanced disease. Plaques, folliculotropism, and age over 60 are risk factors for progression. A 5-year survival rate of less than 20% is associated with LCT in MF. Treatment requires an interdisciplinary approach; skindirected therapies are available for early stages of the disease, but there are no curative options for advanced stages of the disease other than allogeneic stem cell transplantation. Because of their severe symptoms and poor treatment efficacy, patients in advanced stages have a lower quality of life and a lower chance of survival. In patients with CD30-expressing CTCL, Brentuximab Vedotin has demonstrated better response rates and progression-free survival (PFS); in advanced SS, mogamulizumab has significantly increased PFS. These findings emphasize the need to standardize prognostic factors and improve CTCL treatment.","PeriodicalId":11049,"journal":{"name":"Dermatology Reports","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141005232","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}
M. Di Prete, A. Michelerio, V. Lora, Carlo Tomasini, C. Cota
The most prevalent primary cutaneous T-cell lymphoma, mycosis fungoides (MF), is characterized by the development of plaques and nodules after an erythematous patchy phase that is non-specific. An infiltrate of atypical small- to medium-sized cerebriform lymphocytes in the superficial dermis, with variable epidermotropism, is the histopathological hallmark of the disease. In more advanced stages of the illness, large-cell transformation may be seen. Early diagnosis of MF can be very challenging based only on histopathologic or clinical findings, so it is critical to have a clinical-pathological correlation. Many atypical variants of MF that deviate from the classic Alibert-Bazin presentation of the disease have been described over the past 30 years, sometimes with different prognostic and therapeutic implications. Clinically or histopathologically, they can mimic a wide range of benign inflammatory skin disorders. To make a conclusive diagnosis in these cases, it is recommended to take multiple biopsies from various lesions and to carefully correlate the clinical and pathological findings. We have outlined the various facets of the illness in this review, positioning MF as a “great imitator”, with an emphasis on the more recently identified variations, differential diagnosis, and its benign mimics.
放线菌病（MF）是最常见的原发性皮肤 T 细胞淋巴瘤，其特点是在非特异性红斑期后出现斑块和结节。组织病理学特征是真皮浅层出现不典型的中小型脑形淋巴细胞浸润，并伴有不同程度的表皮向性。在疾病的晚期，可能会出现大细胞转化。仅凭组织病理学或临床发现来进行巨细胞性红斑狼疮的早期诊断是非常困难的，因此临床病理学相关性至关重要。在过去的 30 年中，已描述了许多不同于经典的阿利伯特-巴金（Alibert-Bazin）表现的 MF 非典型变异，这些变异有时具有不同的预后和治疗意义。从临床或组织病理学角度来看，它们可以模仿多种良性炎症性皮肤病。要对这些病例做出确诊，建议从不同的病变部位进行多次活检，并仔细对照临床和病理结果。我们在这篇综述中概述了这种疾病的各个方面，将混合灶定位为 "伟大的模仿者"，重点介绍了最近发现的变异、鉴别诊断及其良性模仿。
{"title":"When mycosis fungoides seems not to be within the spectrum of clinical and histopathological differential diagnoses","authors":"M. Di Prete, A. Michelerio, V. Lora, Carlo Tomasini, C. Cota","doi":"10.4081/dr.2024.10008","DOIUrl":"https://doi.org/10.4081/dr.2024.10008","url":null,"abstract":"The most prevalent primary cutaneous T-cell lymphoma, mycosis fungoides (MF), is characterized by the development of plaques and nodules after an erythematous patchy phase that is non-specific. An infiltrate of atypical small- to medium-sized cerebriform lymphocytes in the superficial dermis, with variable epidermotropism, is the histopathological hallmark of the disease. In more advanced stages of the illness, large-cell transformation may be seen. Early diagnosis of MF can be very challenging based only on histopathologic or clinical findings, so it is critical to have a clinical-pathological correlation. Many atypical variants of MF that deviate from the classic Alibert-Bazin presentation of the disease have been described over the past 30 years, sometimes with different prognostic and therapeutic implications. Clinically or histopathologically, they can mimic a wide range of benign inflammatory skin disorders. To make a conclusive diagnosis in these cases, it is recommended to take multiple biopsies from various lesions and to carefully correlate the clinical and pathological findings. We have outlined the various facets of the illness in this review, positioning MF as a “great imitator”, with an emphasis on the more recently identified variations, differential diagnosis, and its benign mimics.","PeriodicalId":11049,"journal":{"name":"Dermatology Reports","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141004459","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}
C. Schiavone, Stefano Vagge, Filippo Grillo Ruggieri
Radiation therapy (RT) is administered with varying intentions, sometimes even several times in the same or in different body areas, to over 50% of patients with neoplastic conditions. Numerous techniques are available to patients in the clinical evolution of mycosis fungoides (MF), and there are several indications for radiation therapy (RT). RT as a skin-directed therapy is very widely used in these patients, either alone or in conjunction with other therapies. The application of RT, a tried-and-true therapy that improves MF patients’ quality of life and treatment, can be encouraged by a multidisciplinary approach and an understanding of current methods and action mechanisms.
{"title":"Radiation therapy in mycosis fungoides","authors":"C. Schiavone, Stefano Vagge, Filippo Grillo Ruggieri","doi":"10.4081/dr.2024.9885","DOIUrl":"https://doi.org/10.4081/dr.2024.9885","url":null,"abstract":"Radiation therapy (RT) is administered with varying intentions, sometimes even several times in the same or in different body areas, to over 50% of patients with neoplastic conditions. Numerous techniques are available to patients in the clinical evolution of mycosis fungoides (MF), and there are several indications for radiation therapy (RT). RT as a skin-directed therapy is very widely used in these patients, either alone or in conjunction with other therapies. The application of RT, a tried-and-true therapy that improves MF patients’ quality of life and treatment, can be encouraged by a multidisciplinary approach and an understanding of current methods and action mechanisms.","PeriodicalId":11049,"journal":{"name":"Dermatology Reports","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141005610","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}
M. Traversari, Luca Ventura, Aleksander Sebastian Iwaszczonek, Elisabetta Cilli, Marco Longoni, Gianandrea Pasquinelli, Giancarlo Troncone, Arturo Brunetti, Davide Melandri, Claudio Bellevicine
Giacomo Torno was born in 1539 (or 1541) in Naples. At the age of 18 he joined the Clerics Regular Theatines in San Paolo Maggiore and was welcomed on 30 October 1558. He suffered a stroke on 4 December 1608 and died 45 days later. Contemporary sources report that he appeared to be tormented by the devil during his illness, tormented by constant spasms in his arm, which caused him great discomfort. During the analysis of his mummified body, a discontinuity of the skin surface at the level of the sacrum was discovered. All morphological features indicate a wound that developed during the subject’s life. Based on historical sources, the fracture of the first coccygeal vertebra, the appearance of the lesion near death, and the shape of the lesion, it appears that this is the first recorded instance of the Kennedy terminal ulcer, identified through both direct and indirect sources
{"title":"A case of Kennedy terminal ulcer in a 17th-century Italian mummy","authors":"M. Traversari, Luca Ventura, Aleksander Sebastian Iwaszczonek, Elisabetta Cilli, Marco Longoni, Gianandrea Pasquinelli, Giancarlo Troncone, Arturo Brunetti, Davide Melandri, Claudio Bellevicine","doi":"10.4081/dr.2024.9956","DOIUrl":"https://doi.org/10.4081/dr.2024.9956","url":null,"abstract":"Giacomo Torno was born in 1539 (or 1541) in Naples. At the age of 18 he joined the Clerics Regular Theatines in San Paolo Maggiore and was welcomed on 30 October 1558. He suffered a stroke on 4 December 1608 and died 45 days later. Contemporary sources report that he appeared to be tormented by the devil during his illness, tormented by constant spasms in his arm, which caused him great discomfort. During the analysis of his mummified body, a discontinuity of the skin surface at the level of the sacrum was discovered. All morphological features indicate a wound that developed during the subject’s life. Based on historical sources, the fracture of the first coccygeal vertebra, the appearance of the lesion near death, and the shape of the lesion, it appears that this is the first recorded instance of the Kennedy terminal ulcer, identified through both direct and indirect sources","PeriodicalId":11049,"journal":{"name":"Dermatology Reports","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140667992","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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