American Journal of Dermatopathology最新文献

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Dermatofibrosarcoma Protuberans Arising in a Digit: A Case Report.
IF 1.1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-02-19 DOI: 10.1097/DAD.0000000000002948
Samantha Sun, Jordan Odom, Nathalie Ruiz, Patricia Moody
{"title":"Dermatofibrosarcoma Protuberans Arising in a Digit: A Case Report.","authors":"Samantha Sun, Jordan Odom, Nathalie Ruiz, Patricia Moody","doi":"10.1097/DAD.0000000000002948","DOIUrl":"https://doi.org/10.1097/DAD.0000000000002948","url":null,"abstract":"<p><strong>Abstract: </strong>Dermatofibrosarcoma protuberans (DFSP) is a rare slow-growing soft tissue sarcoma that is usually found on the trunk or extremities. This report highlights an exceedingly rare case in which a DFSP arose on the digit of a 43-year-old man. Clinical and histologic analysis revealed an atypical CD34-positive tumor with differentials including DFSP and multiple similar entities. However, fluorescence in situ hybridization studies revealed a COL1A1 translocation to the platelet-derived growth factor B (22q13.1) locus, t(17;22)(q22;q13), confirming the diagnosis of DFSP. Although rare, this case highlights the importance of including DFSP on the differential in CD34-positive acral tumors, with cytogenetic analysis crucial for accurate diagnosis and treatment.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143473288","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Rare Cutaneous Presentation of Malignant Tenosynovial Giant Cell Tumor.
IF 1.1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-02-19 DOI: 10.1097/DAD.0000000000002943
Sophia Luyten, Apoorva Mehta, Alejandro A Gru
{"title":"A Rare Cutaneous Presentation of Malignant Tenosynovial Giant Cell Tumor.","authors":"Sophia Luyten, Apoorva Mehta, Alejandro A Gru","doi":"10.1097/DAD.0000000000002943","DOIUrl":"https://doi.org/10.1097/DAD.0000000000002943","url":null,"abstract":"<p><strong>Abstract: </strong>Malignant tenosynovial giant cell tumor (MTGCT) is a rare and aggressive variant of tenosynovial giant cell tumors, with fewer than 60 reported cases. Although typically localized to joints and soft tissues, cutaneous presentations of MTGCT are exceedingly rare, with only a handful of documented cases involving direct dermal invasion. Here we report the case of an 88-year-old man with a history of nonmelanoma skin cancers who presented with a friable, ulcerated 2.5 cm nodule on the midchest. The lesion, present for approximately 1 month, was excised and found to be a malignant TGCT. Histopathology revealed a neoplasm with multinucleated giant cells and malignant features such as numerous and atypical mitotic figures, necrosis, and severe cellular pleomorphism. Immunohistochemistry showed positivity for CD45 and CD68, with weak partial expression of smooth muscle actin, and negative for CD34, P40, SOX10, pancytokeratin, CD163, CD1a, S100, and Melan-A, confirming the diagnosis. The patient underwent complete surgical excision. This case highlights a rare presentation of MTGCT with direct cutaneous involvement, adding to the sparse literature on this malignancy. Early recognition and accurate diagnosis of such unusual presentations are crucial because of the tumor's aggressive potential.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143473238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Periungual Cyst or Pseudocyst Featuring Low-Grade Dysplasia Associated With High-Risk Human Papillomavirus Infection: A Cystic Presentation of Human Papillomavirus-Related Intraepithelial Neoplasia of the Nail Bed?
IF 1.1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-02-19 DOI: 10.1097/DAD.0000000000002950
Jean-Louis Dargent, Michel Hérin, Isabelle Fayt, Jean-Christophe Noël
{"title":"Periungual Cyst or Pseudocyst Featuring Low-Grade Dysplasia Associated With High-Risk Human Papillomavirus Infection: A Cystic Presentation of Human Papillomavirus-Related Intraepithelial Neoplasia of the Nail Bed?","authors":"Jean-Louis Dargent, Michel Hérin, Isabelle Fayt, Jean-Christophe Noël","doi":"10.1097/DAD.0000000000002950","DOIUrl":"https://doi.org/10.1097/DAD.0000000000002950","url":null,"abstract":"","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143473306","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Case of Pancreatitis-Panniculitis-Polyarthritis Syndrome due to Primary Hepatic Neuroendocrine Tumor.
IF 1.1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-02-19 DOI: 10.1097/DAD.0000000000002947
Wenjin Fan, Huan Wang, Lin Hou, Shanshan Li
{"title":"A Case of Pancreatitis-Panniculitis-Polyarthritis Syndrome due to Primary Hepatic Neuroendocrine Tumor.","authors":"Wenjin Fan, Huan Wang, Lin Hou, Shanshan Li","doi":"10.1097/DAD.0000000000002947","DOIUrl":"https://doi.org/10.1097/DAD.0000000000002947","url":null,"abstract":"<p><strong>Abstract: </strong>A 66-year-old male patient presented to our department with subcutaneous nodules in both lower extremities accompanied by pain. Skin pathology suggested pancreatic panniculitis. Subsequent imaging and histopathology identified a rare case of pancreatitis-panniculitis-polyarthritis syndrome secondary to a primary hepatic neuroendocrine tumor. This case highlights the rare association between nonpancreatic conditions and pancreatic panniculitis.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143473236","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
34βE12 is the Most Reliable Marker for Keratin-Derived Cutaneous Amyloid: A Comparative Study.
IF 1.1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-02-19 DOI: 10.1097/DAD.0000000000002942
Maged Daruish, Ghada Al-Sharbatee, Corrado D'Arrigo, Saleem Taibjee
{"title":"34βE12 is the Most Reliable Marker for Keratin-Derived Cutaneous Amyloid: A Comparative Study.","authors":"Maged Daruish, Ghada Al-Sharbatee, Corrado D'Arrigo, Saleem Taibjee","doi":"10.1097/DAD.0000000000002942","DOIUrl":"https://doi.org/10.1097/DAD.0000000000002942","url":null,"abstract":"<p><strong>Abstract: </strong>Congo red (CR) remains the most commonly used stain by pathologists to detect amyloid deposition. CR, however, has limitations including variable sensitivity with potential of false negative results. We investigated the staining intensity of CR in comparison to commercially available cytokeratin immunohistochemical markers in a series of primary cutaneous amyloidosis originating from keratin filaments.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143473281","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Focal Oral Elastosis: Case Series, Proposed Nomenclature, and Literature Review.
IF 1.1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-02-19 DOI: 10.1097/DAD.0000000000002920
Lama Alabdulaaly, Dahee Chung, Sook-Bin Woo
{"title":"Focal Oral Elastosis: Case Series, Proposed Nomenclature, and Literature Review.","authors":"Lama Alabdulaaly, Dahee Chung, Sook-Bin Woo","doi":"10.1097/DAD.0000000000002920","DOIUrl":"https://doi.org/10.1097/DAD.0000000000002920","url":null,"abstract":"<p><strong>Abstract: </strong>Late-onset focal dermal elastosis is an uncommon elastic disorder seen in older individuals and biopsies demonstrate an increase in elastic fibers. Elastosis of the oral cavity is reported uncommonly. The aim of this study is to describe oral biopsies with similar histopathologic features to late-onset focal dermal elastosis and to introduce the term \"focal oral elastosis.\" We included oral biopsies that showed increased elastic fibers confirmed by Verhoeff-van Gieson histochemical stain. We identified 6 oral biopsies with prominent elastosis. There were 4 men, and the median age was 64.5 years. Elastosis was present in 5 nodular lesions and 1 papule. Lesions occurred on the gingiva (33.3%), palatal mucosa (33.3%), buccal mucosa (16.7%), and upper lip (16.7%). Deposition of amorphic bluish/amphophilic material in the subepithelial areas was seen in all cases confirmed with the Verhoeff-van Gieson stain. Our case series demonstrates the presence of elastic fibers in reactive lesions such as oral fibromas.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143473290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Late Recurrent Spitz Melanoma With a TMEM106B::BRAF Fusion.
IF 1.1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-02-19 DOI: 10.1097/DAD.0000000000002946
Shunsuke Koga, Giorgos C Karakousis, Guang Yang, David E Elder
{"title":"Late Recurrent Spitz Melanoma With a TMEM106B::BRAF Fusion.","authors":"Shunsuke Koga, Giorgos C Karakousis, Guang Yang, David E Elder","doi":"10.1097/DAD.0000000000002946","DOIUrl":"https://doi.org/10.1097/DAD.0000000000002946","url":null,"abstract":"<p><strong>Abstract: </strong>Melanoma is a clinically and genetically heterogeneous malignancy that can recur long after initial treatment. We report the case of a 70-year-old man who presented with metastatic cutaneous melanoma 36 years after the initial diagnosis. Initially diagnosed with nodular melanoma on the left heel at age 34 years, the patient experienced metastatic spread to the left groin lymph nodes by age 36 years, followed by various systemic therapies, including interferon and cytokine therapy, and subsequent observation, over 15 years. Two years before his current presentation, the patient noted a growing mass in his right thigh and an enlarged left inguinal lymph node. Fine-needle aspiration biopsy of the lymph node confirmed the recurrence of melanoma. He subsequently underwent inguinofemoral lymph node dissection and resection of the right thigh mass. Histopathological evaluation revealed melanoma characterized by tumorigenic proliferation of pleomorphic epithelioid and spindle cells with abundant eosinophilic cytoplasm, large nuclei with prominent nucleoli, sparse lymphocyte infiltration, and minimal necrosis, consistent with an initial diagnosis of Spitzoid melanoma. Genetic profiling using targeted next-generation sequencing identified a novel TMEM106B::BRAF fusion, along with CHEK2 and MUTYH mutations. The BRAF fusion supports the diagnosis of Spitz melanoma, a genetically defined subset of Spitzoid melanoma. This case represents the first report of a TMEM106B::BRAF fusion in melanoma, emphasizing the critical role of molecular profiling in diagnosing and managing this malignancy, and suggesting a potential avenue for future therapeutic exploration.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143473294","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Case of Recurrent Eyelid Cutaneous Myxoma With Basaloid Proliferation in a Child.
IF 1.1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-02-06 DOI: 10.1097/DAD.0000000000002926
Margaryta Stoieva, Emily O'Donnell
{"title":"A Case of Recurrent Eyelid Cutaneous Myxoma With Basaloid Proliferation in a Child.","authors":"Margaryta Stoieva, Emily O'Donnell","doi":"10.1097/DAD.0000000000002926","DOIUrl":"https://doi.org/10.1097/DAD.0000000000002926","url":null,"abstract":"<p><strong>Abstract: </strong>Cutaneous myxomas are extremely rare in the pediatric population. We describe a case of an eyelid cutaneous myxoma with multiple recurrences in an 8-year-old child. The lesion once previously diagnosed as eccrine hidrocystoma had been excised three times with subsequent recurrence. Frozen section diagnosis performed during the fourth excision showed striking basaloid features, prompting deferral of definitive diagnosis to permanent sections. Following routine processing, basaloid proliferations were again seen without significant atypia or mitotic activity in addition to background features of myxoma. CD10 immunostain highlighted both basaloid nests and surrounding stroma. Cutaneous myxoma was diagnosed. The diagnosis was corroborated by an external consultation. The patient underwent genetic testing for the Carney complex with negative results. This case report raises some practical points. First, due to their rarity in the pediatric population and potential to mimic other entities, cutaneous myxomas can be misdiagnosed as other benign neoplasms. Second, although induction of basaloid proliferation has been well-documented in myxoma, it can be easily misinterpreted as a malignant process, particularly in the setting of a frozen section diagnosis and lack of available clinical information. Third, even though solitary cutaneous myxomas are less likely to be associated with the Carney complex, a possibility of such an association should always be born in mind, as consequences of missing syndromic neoplasms, such as cardiac myxoma, can be lethal.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143257233","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Gene Fusion-Driven Cutaneous Adnexal Neoplasms: An Updated Review Emphasizing Molecular Characteristics.
IF 1.1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-02-06 DOI: 10.1097/DAD.0000000000002933
Gerardo Cazzato, Maged Daruish, Francesco Fortarezza, Anna Colagrande, Andrea Marzullo, Giuseppe Ingravallo, Angelo Paolo Dei Tos, Richard K Yang, Woo Cheal Cho
{"title":"Gene Fusion-Driven Cutaneous Adnexal Neoplasms: An Updated Review Emphasizing Molecular Characteristics.","authors":"Gerardo Cazzato, Maged Daruish, Francesco Fortarezza, Anna Colagrande, Andrea Marzullo, Giuseppe Ingravallo, Angelo Paolo Dei Tos, Richard K Yang, Woo Cheal Cho","doi":"10.1097/DAD.0000000000002933","DOIUrl":"10.1097/DAD.0000000000002933","url":null,"abstract":"<p><strong>Abstract: </strong>Gene rearrangements or fusions have emerged as critical oncogenic drivers in various cutaneous adnexal neoplasms. This review offers a comprehensive overview of both established and recently identified molecular alterations, with a specific focus on gene fusions. Key alterations discussed include YAP1 rearrangements, CRTC1::MAML2 fusions, BRD3 rearrangements, MYB::NFIB fusions, ETV6::NTRK3 fusions, and PLAG1 rearrangements, alongside rarer fusion transcripts, such as MEF2C::SS18 , FOXK1::GRHL1/2 , GPS2::GRHL , and RARA::NPEPPS . The article highlights the significance of these genetic changes in tumor biology and their potential therapeutic implications for locally advanced and metastatic skin adnexal tumors. It also addresses diagnostic challenges and molecular distinctions, providing updated insights into adnexal tumors driven by these gene fusions.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143257206","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Expression of p16 in Hypertrophic Lichen Planus.
IF 1.1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-02-06 DOI: 10.1097/DAD.0000000000002940
Katie R Xu, Kord Honda, Bethany R Rohr
{"title":"Expression of p16 in Hypertrophic Lichen Planus.","authors":"Katie R Xu, Kord Honda, Bethany R Rohr","doi":"10.1097/DAD.0000000000002940","DOIUrl":"10.1097/DAD.0000000000002940","url":null,"abstract":"<p><strong>Background: </strong>Although cutaneous squamous cell carcinoma (SCC) arising from lichen planus is rare, hypertrophic lichen planus (HLP) accounts for most of these malignant transformations. Although the mechanism of malignant pathogenesis remains unknown, reports of similar premalignant conditions suggest a potential role of tumor suppressor p16. This is the first study to our knowledge to examine p16 expression in HLP in comparison to cutaneous invasive SCC and normal skin and its implications for malignant transformation.</p><p><strong>Methods: </strong>p16 immunohistochemistry of HLP (n = 34) was performed alongside location-matched well-differentiated SCC (WDSCC) and normal skin. Percentage of positive cells, nuclear and cytoplasmic staining intensity, and staining distribution patterns were reviewed by 2 Board-certified dermatopathologists.</p><p><strong>Results: </strong>HLP and WDSCC both showed an increased percentage of positive cells compared with normal skin ( P < 0.001). Cytoplasmic p16 was overexpressed in HLP compared with WDSCC ( P < 0.05). Most cases of HLP and WDSCC demonstrated stronger basal and suprabasal keratinocyte staining with weaker superficial staining. In WDSCC, a predominant pattern of focal cytoplasmic margination of staining along the cellular periphery was observed.</p><p><strong>Conclusions: </strong>Our finding of cytoplasmic p16 overexpression in HLP suggests a potential mechanism of p16-mediated cell cycle dysregulation seen in other premalignant conditions. p16 overexpression seems to be a possible contributor in the malignant transformation of HLP to SCC.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143257185","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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