Filipa Galante Pereira, Gonçalo Esteves, Joaninha Costa Rosa, José Cabeçadas, Mariana Cravo, Maria Inês Matos Silva Barbosa Pereira, Alistair Robson
{"title":"肉芽肿性皮肤松弛伴肺部和食道受累:病例报告与分子分析","authors":"Filipa Galante Pereira, Gonçalo Esteves, Joaninha Costa Rosa, José Cabeçadas, Mariana Cravo, Maria Inês Matos Silva Barbosa Pereira, Alistair Robson","doi":"10.1097/dad.0000000000002697","DOIUrl":null,"url":null,"abstract":"Granulomatous slack skin (GSS) is a rare subtype of mycosis fungoides, and few cases have been known to spread to the blood, lymph nodes, or viscera. We present a case with early dissemination to the lung. A 27-year-old woman, previously healthy, presented with scattered disseminated scaly patches, associated with vulvar and intergluteal firm swelling and groin-skin induration for 1 year. She also reported mild fatigue and breathlessness on moderate exertion. The patient underwent blood tests, skin biopsies, and computed tomography scan. The skin biopsy showed a mildly atypical T-cell lymphoid infiltrate involving the dermis/hypodermis, with focal epidermotropism, associated with a granulomatous infiltrate and elastophagocytosis. The computed tomography scan revealed bilateral ground-glass lung nodular opacities. Positron emission tomography showed an increased signal in the skin and subcutis around the buttocks, inguinal and mediastinal lymph nodes, and lungs. The lung biopsy confirmed a dense T-cell infiltrate with numerous multinucleated giant cells. Subsequently, esophageal involvement was also observed following biopsy. Molecular analyses demonstrated identical T-cell clones in the skin and lung. After 6 cycles of chemotherapy/localized external radiotherapy, the patient had a partial skin response and stable lung disease. A preferred diagnosis of GSS with systemic spread was made based on clinical/histologic/molecular findings, after considering granulomatous mycosis fungoides and peripheral T-cell lymphoma, not otherwise specified. This case highlights the frequent diagnostic difficulty in distinguishing GSS from an inflammatory granulomatous dermatitis. Pulmonary and esophageal involvements are rare in GSS, and the simultaneous presentation of characteristic cutaneous GSS with systemic disease poses an additional classification challenge.","PeriodicalId":501833,"journal":{"name":"The American Journal of Dermatopathology","volume":"5 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Granulomatous Slack Skin With Lung and Esophagus Involvement: A Case Report and Molecular Analysis.\",\"authors\":\"Filipa Galante Pereira, Gonçalo Esteves, Joaninha Costa Rosa, José Cabeçadas, Mariana Cravo, Maria Inês Matos Silva Barbosa Pereira, Alistair Robson\",\"doi\":\"10.1097/dad.0000000000002697\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Granulomatous slack skin (GSS) is a rare subtype of mycosis fungoides, and few cases have been known to spread to the blood, lymph nodes, or viscera. We present a case with early dissemination to the lung. A 27-year-old woman, previously healthy, presented with scattered disseminated scaly patches, associated with vulvar and intergluteal firm swelling and groin-skin induration for 1 year. She also reported mild fatigue and breathlessness on moderate exertion. The patient underwent blood tests, skin biopsies, and computed tomography scan. The skin biopsy showed a mildly atypical T-cell lymphoid infiltrate involving the dermis/hypodermis, with focal epidermotropism, associated with a granulomatous infiltrate and elastophagocytosis. The computed tomography scan revealed bilateral ground-glass lung nodular opacities. Positron emission tomography showed an increased signal in the skin and subcutis around the buttocks, inguinal and mediastinal lymph nodes, and lungs. The lung biopsy confirmed a dense T-cell infiltrate with numerous multinucleated giant cells. Subsequently, esophageal involvement was also observed following biopsy. Molecular analyses demonstrated identical T-cell clones in the skin and lung. After 6 cycles of chemotherapy/localized external radiotherapy, the patient had a partial skin response and stable lung disease. A preferred diagnosis of GSS with systemic spread was made based on clinical/histologic/molecular findings, after considering granulomatous mycosis fungoides and peripheral T-cell lymphoma, not otherwise specified. This case highlights the frequent diagnostic difficulty in distinguishing GSS from an inflammatory granulomatous dermatitis. Pulmonary and esophageal involvements are rare in GSS, and the simultaneous presentation of characteristic cutaneous GSS with systemic disease poses an additional classification challenge.\",\"PeriodicalId\":501833,\"journal\":{\"name\":\"The American Journal of Dermatopathology\",\"volume\":\"5 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-04-04\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"The American Journal of Dermatopathology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1097/dad.0000000000002697\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"The American Journal of Dermatopathology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1097/dad.0000000000002697","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
摘要
肉芽肿性皮肤松弛症(GSS)是真菌病的一种罕见亚型,很少有病例会扩散到血液、淋巴结或内脏。我们介绍了一例早期扩散到肺部的病例。一名 27 岁的女性患者之前身体健康,出现散在的播散性鳞屑斑块,伴有外阴和臀部间坚实肿胀和腹股沟皮肤压痕,病程长达 1 年。她还报告了轻度疲劳和中度劳累时呼吸困难的症状。患者接受了血液化验、皮肤活检和计算机断层扫描。皮肤活检显示,真皮层/表皮层有轻度非典型 T 细胞淋巴细胞浸润,局灶性表皮增生,伴有肉芽肿浸润和弹性吞噬细胞增多。计算机断层扫描显示双侧肺部结节性不透明,呈磨玻璃状。正电子发射断层扫描显示,臀部周围皮肤和皮下、腹股沟和纵隔淋巴结以及肺部信号增强。肺部活检证实有密集的 T 细胞浸润,并伴有大量多核巨细胞。随后,活检还发现食管受累。分子分析表明,皮肤和肺部存在相同的 T 细胞克隆。经过 6 个周期的化疗/局部体外放疗后,患者皮肤出现部分反应,肺部疾病稳定。根据临床/组织学/分子研究结果,在考虑了肉芽肿性真菌病和外周T细胞淋巴瘤(未另作说明)后,首选诊断为伴有全身扩散的GSS。该病例凸显了将 GSS 与炎性肉芽肿性皮炎区分开来的诊断难度。肺部和食管受累在 GSS 中并不多见,同时出现特征性皮肤 GSS 和全身性疾病也给分类带来了额外的挑战。
Granulomatous Slack Skin With Lung and Esophagus Involvement: A Case Report and Molecular Analysis.
Granulomatous slack skin (GSS) is a rare subtype of mycosis fungoides, and few cases have been known to spread to the blood, lymph nodes, or viscera. We present a case with early dissemination to the lung. A 27-year-old woman, previously healthy, presented with scattered disseminated scaly patches, associated with vulvar and intergluteal firm swelling and groin-skin induration for 1 year. She also reported mild fatigue and breathlessness on moderate exertion. The patient underwent blood tests, skin biopsies, and computed tomography scan. The skin biopsy showed a mildly atypical T-cell lymphoid infiltrate involving the dermis/hypodermis, with focal epidermotropism, associated with a granulomatous infiltrate and elastophagocytosis. The computed tomography scan revealed bilateral ground-glass lung nodular opacities. Positron emission tomography showed an increased signal in the skin and subcutis around the buttocks, inguinal and mediastinal lymph nodes, and lungs. The lung biopsy confirmed a dense T-cell infiltrate with numerous multinucleated giant cells. Subsequently, esophageal involvement was also observed following biopsy. Molecular analyses demonstrated identical T-cell clones in the skin and lung. After 6 cycles of chemotherapy/localized external radiotherapy, the patient had a partial skin response and stable lung disease. A preferred diagnosis of GSS with systemic spread was made based on clinical/histologic/molecular findings, after considering granulomatous mycosis fungoides and peripheral T-cell lymphoma, not otherwise specified. This case highlights the frequent diagnostic difficulty in distinguishing GSS from an inflammatory granulomatous dermatitis. Pulmonary and esophageal involvements are rare in GSS, and the simultaneous presentation of characteristic cutaneous GSS with systemic disease poses an additional classification challenge.