Journal of Cutaneous Pathology最新文献

{"title":"A Cutaneous Vascular Neoplasm With an EWSR1-NFATC2 Translocation—Contributing to the Spectrum of Vascular Lesions Characterized by NFATC-Related Fusions","authors":"B. Schurink,&nbsp;A. M. van Huizen,&nbsp;C. D. Savci-Heijink,&nbsp;E.-J. Kooi","doi":"10.1111/cup.14800","DOIUrl":"10.1111/cup.14800","url":null,"abstract":"<p>Recently, a distinct subgroup of vascular neoplasms has been identified, characterized by <i>NFATC</i>-related fusions. Although existing literature is limited, these lesions histologically show a variable appearance with a tendency for local recurrence but not distant spread. Therefore, they likely fall within the “benign” or at most in the “local aggressive”/“borderline” tumor category according to the International Society for the Study of Vascular Anomalies (ISSVA) classification scheme. Up to now, vascular tumors with <i>NFATC</i>-related fusions have only been documented in bone and occasionally soft tissue. We present a case of a woman with a “difficult-to-diagnose” multifocal cutaneous vascular neoplasm showing an <i>EWSR1::NFATC2</i> translocation. To our knowledge, this is the first report on a vascular neoplasm with an <i>EWSR1::NFATC2</i> translocation occurring in the skin.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 6","pages":"410-413"},"PeriodicalIF":1.6,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cup.14800","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143556795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Determining the Relationship Between Cutaneous Keratocysts and Basal Cell Nevus Syndrome","authors":"Madelyn M. Class,&nbsp;Claire Rose Kissinger,&nbsp;Sidra Ibad,&nbsp;Aspen Trautz,&nbsp;Lisa Zhai,&nbsp;Farhaan Hafeez","doi":"10.1111/cup.14803","DOIUrl":"10.1111/cup.14803","url":null,"abstract":"","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 6","pages":"403-405"},"PeriodicalIF":1.6,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542196","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}

{"title":"CD138: A Potential Novel Diagnostic Marker for Cellular Neurothekeoma","authors":"Sarah Williamson,&nbsp;Arlene Rosenberg,&nbsp;Sarmad Jassim,&nbsp;Stephen Somach","doi":"10.1111/cup.14790","DOIUrl":"10.1111/cup.14790","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>We incidentally observed CD138 (syndecan-1) expression in a cellular neurothekeoma (CNT) and sought to investigate whether this is a consistent finding in these tumors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We evaluated a series of 20 skin biopsy specimens diagnosed as CNT for CD138 immunohistochemical staining in comparison to the more traditional CNT immunohistochemical stains, NKI/C3 and MITF. Control cases of xanthogranuloma (XG), dermal Spitz nevi, and epithelioid fibrous histiocytomas (EFH) were included based on similar histopathologic morphology.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>CD138 expression in a membranous and reticulated extracellular pattern was observed in 95% of CNT cases evaluated. NKI/C3 was expressed in 83% of CNT, and MITF in 72%. Of the control cases, 10% of XG, 10% of dermal Spitz nevi, and 17% of EFH expressed CD138.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Our data suggest that CD138 may be a useful adjunctive marker in the diagnosis of CNT, particularly when utilized in a panel with other established markers such as NKI/C3 and MITF.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 5","pages":"379-383"},"PeriodicalIF":1.6,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542193","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}

{"title":"Training Residents in Dermatopathology in the 21st Century: The Pros and Cons of Harnessing Virtual Microscopy and Remote Learning","authors":"Marianna Shvartsbeyn,&nbsp;Ata S. Moshiri","doi":"10.1111/cup.14802","DOIUrl":"10.1111/cup.14802","url":null,"abstract":"","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 5","pages":"384-385"},"PeriodicalIF":1.6,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542197","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}

{"title":"A Case of Hybrid Cellular Neurothekeoma and Perineurioma With a Folliculin Gene Mutation","authors":"Taylor J. Prechtel,&nbsp;Emma Brashear,&nbsp;Carina A. Dehner,&nbsp;Ahmed K. Alomari","doi":"10.1111/cup.14799","DOIUrl":"10.1111/cup.14799","url":null,"abstract":"<p>Hybrid peripheral nerve sheath tumors (PNSTs) are benign tumors that show features of more than one type of PNST. Benign cutaneous plexiform hybrid tumor of perineurioma and cellular neurothekeoma (BCPHTPCN) is a rare, recently described entity that shows various combinations of histomorphologic and immunophenotypic features of the PNSTs perineurioma and cellular neurothekeoma. Our case describes a middle-aged man initially presenting with an acute papulopustular rosacea flare. Rosacea treatment unmasked a prominent erythematous papule on the forehead. A biopsy was taken, and histopathological examination showed a proliferation of epithelioid, ovoid, and spindled cells arranged in a compact nested and intersecting fascicular growth. Immunohistochemical stains were positive for NKI/C3, CD10, PGP9.5, MITF, and GLUT-1. There was weak reactivity with EMA and minimal reactivity with Claudin-1. Tumor cells were negative for SOX10, CD163, CD68, CD34, ALK, and Pan-TRK. The patient was diagnosed with BCPHTPCN. DNA and RNA sequencing showed a <i>folliculin</i> (<i>FLCN</i>) gene mutation, which is most commonly associated with Birt–Hogg–Dubé syndrome. The patient underwent excision and has remained without recurrence or complications several months post-diagnosis. We hope to expand the clinical and histopathologic characteristics of this peculiar neoplasm, as well as provide additional insight that might improve our understanding of BCPHTPCN tumorigenesis.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 5","pages":"374-378"},"PeriodicalIF":1.6,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cup.14799","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143523358","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pediatric Post-Vaccine Aluminum Granuloma: Morin Stain as a Diagnostic Aid","authors":"Justin R. Chang,&nbsp;Alvin Wong,&nbsp;Julio A. Diaz-Perez,&nbsp;Chunyu Cai,&nbsp;Mark C. Mochel","doi":"10.1111/cup.14797","DOIUrl":"10.1111/cup.14797","url":null,"abstract":"&lt;p&gt;Infrequently, vaccine injection sites become chronically indurated, a phenomenon spanning a wide age range, occurring 7 months to 8 years post-vaccination, and occasionally persisting for years [&lt;span&gt;1, 2&lt;/span&gt;]. Excision is curative. Histopathologic examination typically reveals subcutaneous granulomatous inflammation with histiocytes containing granular amphophilic cytoplasm, a finding correlated with the presence of aluminum salts, an adjuvant component of many vaccines. Ancillary tests to confirm the presence of aluminum include energy-dispersive x-ray microanalysis and, more practical for histology laboratories, histochemical studies such as the morin stain, which forms a green fluorescent complex with aluminum [&lt;span&gt;3&lt;/span&gt;]. Here, we present a case of a persistent nodular vaccine-site reaction in a child with characteristic histopathologic findings and the use of a morin stain to detect the presence and distribution of aluminum.&lt;/p&gt;&lt;p&gt;A 22-month-old male with a history of mild atopic dermatitis and pityriasis rosea presented with an enlarging nodule in the left shoulder following vaccinations at 8 months of age. DTaP-IPV-HepB (Diphtheria, Tetanus, Pertussis, Poliovirus, hepatitis B), Pneumococcal conjugate, and \u0000 &lt;i&gt;Haemophilus influenzae&lt;/i&gt;\u0000 type B vaccines had been administered at the site of the lesion. Physical examination revealed a firm subcutaneous nodule, approximately 1 cm in greatest dimension, overlying the left deltoid muscle with an overlying mildly hypertrophic scar. An ultrasound study revealed a 0.8 cm lobulated hypoechoic lesion (Figure 1). While the lesion was suspected to be a vaccine reaction, the patient's family opted for removal of the lesion for definitive diagnosis.&lt;/p&gt;&lt;p&gt;Histopathological examination of the excision specimen revealed subcutaneous fibrosis with patchy lymphohistiocytic inflammation, scattered lymphoid follicles, and focal palisaded granuloma surrounding altered collagen, which contained rare purplish non-polarizable material (Figure 2A–C). Histiocytes had granular amphophilic cytoplasm (Figure 2D). A Grocott methenamine silver stain was negative for fungi. Ziehl-Neelsen and Fite stains were negative for mycobacteria. The histopathologic features were consistent with a persistent vaccine reaction, possibly related to aluminum adjuvants. Subsequently, a morin stain was prepared, as described previously [&lt;span&gt;3&lt;/span&gt;], for the specific identification of aluminum. Through the green channel in fluorescence microscopy, aluminum granules were seen (Figure 3A), mostly within the cytoplasm of the granular macrophages (Figure 3B). Taken together, the histopathologic and histochemical findings were consistent with a vaccine-site reaction secondary to aluminum salt.&lt;/p&gt;&lt;p&gt;Given that vaccine-site reactions typically resolve without intervention, biopsy is rarely performed. Consequently, few studies have detailed the histopathology of reactions to aluminum-adjuvant-containing vac","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 6","pages":"399-402"},"PeriodicalIF":1.6,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cup.14797","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492225","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spitz Spindle Cell/Reed Nevus With SQSTM1::NTRK2 Fusion and Atypical Features in an Older Male Patient: A Case Report and Review of Literature","authors":"Federico Scarfò,&nbsp;Emanuela Brunetto,&nbsp;Gilda Magliacane,&nbsp;Lorenza Pecciarini,&nbsp;Gerardo Ferrara,&nbsp;Nathalie Rizzo","doi":"10.1111/cup.14798","DOIUrl":"10.1111/cup.14798","url":null,"abstract":"<p>Spitz lesions display a set of genetic alterations that differ from classical melanocytic lesions: examples include mutations in <i>HRAS</i> and fusions involving <i>ALK</i>, <i>ROS1</i>, <i>MET</i>, <i>MAP3K8</i>, <i>BRAF</i>, and the <i>NTRK</i> genes. We present a Spitz spindle cell/Reed nevus with atypical junctional features and an <i>NTRK2</i> translocation in a patient of unusual age. The patient was a 61-year-old man with a pigmented brown flat 6 mm lesion growing on the skin over the left scapula. The lesion was composed of spindled and epithelioid melanocytes and was arranged in nests with some scattered focal pagetoid cells as well as intraepidermal nests at the center of the lesion and occasional mitotic figures. The melanocytes showed diffuse staining for pan-Trk antibodies. p16 staining was focally and weakly positive. The cells showed staining for HMB-45, MART-1, and tyrosinase, whereas they were negative for PRAME, ALK-1, and ROS-1 immunostaining. BAP-1 was preserved. Next-generation sequencing detected a <i>SQSTM1</i>::<i>NTRK2</i> fusion and showed no alterations of <i>ALK</i>, <i>ROS1</i>, <i>RET</i>, <i>NTRK1</i>, and <i>NTRK3</i> genes, as well as no pathogenic variants of <i>BRAF</i>. Fluorescent in situ hybridization showed <i>NTRK2</i> translocation in all melanocytes evaluated. This case presents a Spitz nevus with a rare translocation in an older patient.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 5","pages":"367-373"},"PeriodicalIF":1.6,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cup.14798","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143468206","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Granulomatous Eccrine Hidradenitis. A New Histopathological Entity?","authors":"Göksu Yavuz,&nbsp;Mehtap Toprak,&nbsp;Ebru Zemheri,&nbsp;Burçe Can Kuru","doi":"10.1111/cup.14795","DOIUrl":"10.1111/cup.14795","url":null,"abstract":"<div>\u0000 \u0000 <p>The term “hidradenitis” designates diseases with inflammatory infiltrate around a sweat gland. Neutrophilic eccrine hidradenitis (NEH) is a reactive disorder usually induced by malignancy or chemotherapeutics, characterized by typically erythematous, edematous papules and plaques on the extremities, trunk, face, and palmar and plantar regions. In histopathology, dense neutrophilic infiltration around the eccrine gland can be seen. In this case, we report a rare case of granulomatous eccrine hidradenitis in a 3-year-old girl with acute lymphoblastic leukemia (ALL), with intense granulomatous inflammation around the eccrine ducts in histopathology.</p>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 5","pages":"362-366"},"PeriodicalIF":1.6,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143414351","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}

{"title":"Primary Cutaneous Spindle Cell Sarcoma With FN1::FGFR1 Fusion","authors":"Ahmed Shah,&nbsp;Ying-Chun Lo,&nbsp;Jorge Torres-Mora","doi":"10.1111/cup.14794","DOIUrl":"10.1111/cup.14794","url":null,"abstract":"<div>\u0000 \u0000 <p>We report a case of a primary cutaneous spindle cell sarcoma (SCS) with <i>FN1</i>::<i>FGFR1</i> fusion. The tumor lacked the typical histologic and immunohistochemical features associated with other <i>FN1</i>-rearranged neoplasms, such as phosphaturic mesenchymal tumors (PMT) and calcified chondroid mesenchymal neoplasms (CCMN). Unlike PMTs, which often feature a cartilaginous matrix and are associated with tumor-induced osteomalacia (TIO), the present case lacked these characteristics and did not show <i>FGF23</i> mRNA expression. Immunohistochemically, the tumor cells showed patchy staining for CD34 but were negative for markers such as ERG, desmin, S100, and pan-TRK. The fusion event in this case involves the loss of the FGFR1 Ig1 (D1) domain, a mechanism proposed to drive oncogenesis by releasing FGFR1 from autoinhibition. Despite the preservation of other FGFR1 domains, no evidence of FGF23 signaling was detected, and the patient had no clinical history of TIO. This case underscores the complexity of oncogenesis in <i>FN1</i>::<i>FGFR1</i>-rearranged neoplasms, a form of “promiscuous” gene fusion, where similar fusions lead to diverse tumor phenotypes. It emphasizes the importance of incorporating molecular testing in diagnosing spindle cell sarcomas, particularly those occurring in acral sites, to identify this underrecognized entity.</p>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 5","pages":"353-361"},"PeriodicalIF":1.6,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143408082","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}

{"title":"Clinical and Histopathological Insights Into Lupus Miliaris Disseminatus Faciei: A Review of 70 Cases","authors":"Maryam Nasimi,&nbsp;Saba Bandani,&nbsp;Kambiz Kamyab,&nbsp;Ifa Etesami,&nbsp;Sahar Montazeri,&nbsp;Fatemeh Saberi,&nbsp;Hanie Babaie","doi":"10.1111/cup.14796","DOIUrl":"10.1111/cup.14796","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Lupus miliaris disseminatus faciei (LMDF) is a granulomatous inflammatory disease often manifesting on the face as red, brown, or yellow papules. Lesions can cause scarring and disfigurement. There is no standard treatment due to a limited understanding of the etiology.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>This review examines the clinical and histopathological characteristics of 70 LMDF patients who were diagnosed from 2016 to 2022.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The patients' mean age was 32.43, with a majority being in their 20s and 30s. Females were more affected during the fourth decade and beyond. The average disease duration among patients was 7.2 months. All of them had facial involvement, mostly around the eyes and on the eyelids. Histopathological analysis revealed epithelioid granulomas with inflammatory cell infiltration and, in some cases, central caseous necrosis. A relationship between the granuloma and the pilosebaceous unit was seen in 75.7% of cases. Epidermal changes, like acanthosis, were found in 47.1% of cases. We also report the existence of linear vessels in 25 (35.7%) cases.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Most authors now consider LMDF a distinct entity, but because of its resemblance to other diseases like granulomatous rosacea, the diagnosis is challenging. Unlike many studies in this field, we provide a quite large sample and report telangiectasia in LMDF patients, which highlights the importance of precisely differentiating LMDF from rosacea. Delay in diagnosis and treatment increases the risk of scarring.</p>\u0000 \u0000 <p>Overall, we believe this study provides valuable insights into the demographics and histopathology of LMDF, contributing to the understanding of this challenging skin disorder.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 5","pages":"386-391"},"PeriodicalIF":1.6,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cup.14796","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143408078","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}