Journal of Cutaneous Pathology最新文献

{"title":"Pigmented Variant of Subungual Acantholytic Dyskeratotic Acanthoma in a Black Patient","authors":"Michael T. Tshudy, Emily I. Patton, Meaghan C. Dougher, Adam I. Rubin","doi":"10.1111/cup.14845","DOIUrl":"https://doi.org/10.1111/cup.14845","url":null,"abstract":"","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 10","pages":"601-604"},"PeriodicalIF":1.1,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144927761","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":"Proliferative Neurocristic Hamartoma Arising From a Congenital Melanocytic Nevus: A Case Report","authors":"Aizlynn Anne J. Robledo,&nbsp;Yu-Hung Wu","doi":"10.1111/cup.14847","DOIUrl":"10.1111/cup.14847","url":null,"abstract":"<div>\u0000 \u0000 <p>Proliferative neurocristic hamartoma (PNH), a rare variant of proliferative nodule, is a benign cutaneous proliferation with melanocytic, neurosustentacular, and mesenchymal differentiation that develops within a congenital or acquired melanocytic nevus. We report the case of a 38-year-old female who presented with a brownish-black plaque on the right medial sole that appeared during childhood and showed rapid nodular growth in the center over the past year. Histological examination revealed a well-demarcated dermal nodule characterized by spindle cell proliferation in a haphazard pattern in the center, with a congenital melanocytic nevus in the periphery. Immunohistochemical staining for S-100, SOX-10, HMB45, EMA, Glut-A, and CD34 demonstrated melanocytic, perineural, and fibrous differentiation in the central nodule, consistent with PNH. The mitotic activity was very low for the Ki-67 stain, and the PRAME stain was negative. Accurate pathological diagnosis is essential to reassure the patient of the nature of this changing mole and exclude the possibility of melanoma.</p>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 10","pages":"622-626"},"PeriodicalIF":1.1,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144642673","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":"Linear IgA Vasculitis: Cutaneous Small-Vessel Leukocytoclastic Vasculitis, in Association With Linear IgA Disease-Type Immunoreactant Deposition Along Epidermal Basement Membrane Zone","authors":"Michael Murphy,&nbsp;Timothy Klufas,&nbsp;Joseph Beauchemin,&nbsp;Shannon Hanggodo,&nbsp;Albert Zhou","doi":"10.1111/cup.14843","DOIUrl":"10.1111/cup.14843","url":null,"abstract":"<div>\u0000 \u0000 <p>We present a 69-year-old male with overlapping clinical-histopathological-immunological features of cutaneous leukocytoclastic vasculitis (LCV) and linear IgA disease (LAD). The patient's disease was considered idiopathic, with a possible underlying infectious trigger/etiology. The term “linear IgA vasculitis” is proposed to describe those patients with rarely reported combined LCV-LAD findings, and includes idiopathic, drug-induced, and paraneoplastic causes.</p>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 10","pages":"611-616"},"PeriodicalIF":1.1,"publicationDate":"2025-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626427","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":"Hematoxylin–Eosin Histology for Detection of Dermatophytosis: A Retrospective Cohort Selection Diagnostic Accuracy Study","authors":"Jack Hulse,&nbsp;Tatiana Movchan,&nbsp;Richard Galbraith,&nbsp;Garth R. Fraga","doi":"10.1111/cup.14840","DOIUrl":"10.1111/cup.14840","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Dermatophytes can be identified in hematoxylin–eosin (H&amp;E) histologic preparations, but the diagnostic accuracy of this approach and the relative need for ancillary periodic acid–Schiff (PAS) testing are unknown.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A cohort selection cross-sectional study with repeated measures was utilized to measure the accuracy of four blinded assessors at different levels of experience and training in detecting fungal hyphae in H&amp;E slides from 100 consecutive cases selected based on prior PAS testing to exclude dermatophytosis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Dermatopathology training was associated with an accuracy of 0.97 (95% CI: 0.93, 1.00), a sensitivity of 0.78 (95% CI: 0.50, 1.00), and a specificity of 0.99 (95% CI: 0.96, 1.00). Accuracy for non-dermatopathologist assessors improved after completing an educational module (from 0.64 to 0.84) but was limited by low sensitivity. False positive classifications by the dermatopathology assessor were only seen in nail clipping specimens. False negative classifications were seen in cases with low fungal burdens, topical corticosteroid treatments, and comorbid conditions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Experienced dermatopathologists can usually identify dermatophytosis with H&amp;E staining. These findings indicate that PAS testing should be selectively applied to cases with suspected dermatophytosis where no organisms are visible on H&amp;E, on nail clips where H&amp;E may be unreliable, and in evaluations by non-dermatopathologists.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 10","pages":"638-643"},"PeriodicalIF":1.1,"publicationDate":"2025-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626426","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":"Cytokeratin and Neuroendocrine Positivity in Cutaneous Small Blue Round Cell Tumor—Is It Always Merkel Cell Carcinoma?","authors":"Simon Moubarak,&nbsp;John McAfee,&nbsp;Karen Fritchie,&nbsp;Jennifer S. Ko,&nbsp;Steven D. Billings,&nbsp;Shira Ronen","doi":"10.1111/cup.14844","DOIUrl":"10.1111/cup.14844","url":null,"abstract":"<p>We present a case of a 39-year-old woman initially diagnosed with Merkel cell carcinoma (MCC), a highly aggressive neuroendocrine carcinoma, due to the presence of cytokeratin and neuroendocrine marker expression. The tumor was dermal based, showing small round blue cells with fine chromatin, scant cytoplasm, and scattered mitotic figures arranged in sheets, small cohesive nests, and cords within sclerotic to edematous stroma. Provided immunohistochemical stains showed strong pancytokeratin expression coupled with perinuclear dot-like staining for cytokeratin 20 in a distinct regional distribution, predominantly in areas where the tumor cells formed cohesive nests and cords within sclerotic stroma. Stains for neuroendocrine markers, including synaptophysin, INSM1, and CD56, were positive, albeit focal or regional in the more cohesive areas. Given the patient's age and unusual regional staining patterns, additional testing was performed, which revealed diffuse membranous CD99 staining and <i>EWSR1::ERG</i> fusion. These findings led us to revise the diagnosis to cutaneous Ewing sarcoma (ES). The distinction between MCC and cutaneous ES is crucial due to their different survival rates and treatment approaches. This case underscored the importance of considering alternative diagnoses when encountering cutaneous small round blue cell tumors in the presence of unusual histologic and immunohistochemical findings, particularly in younger patients.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 10","pages":"605-610"},"PeriodicalIF":1.1,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cup.14844","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144608476","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":"Early Skin Biopsy in Conradi-Hünermann-Happle Syndrome (X-Linked Dominant Chondrodysplasia Punctata)","authors":"Cathal O'Connor,&nbsp;Neidín Bussmann,&nbsp;Sarah Ni Mhaolcatha,&nbsp;Cynthia Heffron,&nbsp;Sally O'Shea","doi":"10.1111/cup.14837","DOIUrl":"https://doi.org/10.1111/cup.14837","url":null,"abstract":"&lt;p&gt;Conradi-Hünermann-Happle syndrome (CHHS) or X-linked dominant chondrodysplasia punctata (CDPX2, OMIM 302960) is a rare type of chondrodysplasia punctata associated with X-linked dominant variants in the emopamil binding protein (&lt;i&gt;EBP&lt;/i&gt;) gene, which impairs cholesterol biosynthesis [&lt;span&gt;1&lt;/span&gt;]. The syndrome is characterized by the triad of ichthyosis (usually presenting as congenital ichthyosiform erythroderma) in 95%, skeletal dysplasia in 80%, and congenital cataracts in 60% [&lt;span&gt;1&lt;/span&gt;]. Scarring alopecia can also be present [&lt;span&gt;2&lt;/span&gt;]. Dystrophic calcifications in keratotic follicular plugs represent a unique histopathologic feature of CHHS in newborns that has not been noted in other forms of ichthyoses [&lt;span&gt;3&lt;/span&gt;]. The characteristic congenital ichthyosiform eruption clears spontaneously within a few weeks, so early biopsy is essential to capture the corresponding diagnostic histopathologic features [&lt;span&gt;3&lt;/span&gt;].&lt;/p&gt;&lt;p&gt;We report the case of a first-born female infant who was delivered at term with widespread redness and scale. There was no family history of genodermatoses or inflammatory dermatoses. There was no parental consanguinity and no history of miscarriages. On examination, there was erythroderma, generalized thick adherent scale in a feathery pattern following lines of Blaschko, and shiny red whorls on the dorsolateral feet (Figure 1A–1F). There was no skin peeling or skin fragility. Several fingernails were hypoplastic. The nasal bridge was flat, and the neck was short. Red reflexes were present bilaterally, but both eyes were noted to be small. The head and trunk were large relative to the limbs, and the proximal limb segments were proportionately short.&lt;/p&gt;&lt;p&gt;Given the constellation of signs, CHHS was suspected clinically. Skin biopsies in the first 12 h of life from linear scaly streaks showed orthohyperkeratosis and numerous dilated follicular ostia with keratin plugs (Figure 2A–2B). Foci of calcification were seen in the corneocytes of the stratum corneum and hair follicles, highlighted with a von Kossa stain (Figure 2C–2D). Skeletal survey showed symmetric punctate calcification/stippling of the proximal femoral epiphysis and ankle bilaterally and of the right humeral epiphysis and right carpus, in keeping with chondrodysplasia punctata, although no gross rhizomelia was appreciated radiologically. Ophthalmology review did not identify congenital cataracts. Renal and cranial ultrasounds were normal, and audiology was normal. Blood tests showed normal hematologic, renal, and bone parameters, and a hyperbilirubinemia meeting the phototherapy threshold. The erythema was noted to improve following 12 h of phototherapy. Urea 10% cream was helpful in reducing the scale. Single gene testing for a variant in the &lt;i&gt;EBP&lt;/i&gt; gene was requested from blood, and a pathogenic variant was detected (c.184C&gt;T; p.Arg62Trp), confirming the diagnosis of CHHS. Parental genetic testing for the variant was negative.","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 10","pages":"597-600"},"PeriodicalIF":1.1,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cup.14837","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144927251","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":"Re: “Rethinking the Semantics of Cutaneous Squamous Cell Carcinoma In Situ”","authors":"Ankan Gupta","doi":"10.1111/cup.14838","DOIUrl":"https://doi.org/10.1111/cup.14838","url":null,"abstract":"","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 10","pages":"636-637"},"PeriodicalIF":1.1,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144927250","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":"Unusual Morphologic Presentation of Perineural Spread From Cutaneous Squamous Cell Carcinoma: Diagnosis Aided by Comprehensive Molecular Analysis and Machine Learning","authors":"Madhurya Ramineni,&nbsp;Hassan Ghani,&nbsp;Bruce R. Smoller,&nbsp;Rajnish Bharadwaj","doi":"10.1111/cup.14832","DOIUrl":"10.1111/cup.14832","url":null,"abstract":"<p>Neoplasms of unknown primary frequently pose a diagnostic challenge due to their nonspecific morphological and immunohistochemical features. Definitive classification of these neoplasms has a profound impact on treatment decisions. Mutational and gene expression profiling can provide diagnostic and prognostic information in these challenging cases. We present a case of pontine and cranial nerve lesions in an elderly male with no clinically identifiable index lesion at the time of presentation. The lesion's morphology and immunoprofile did not provide a definitive diagnosis. The whole-exome and transcriptome sequencing identified a UV signature confirming the tumor's cutaneous origin. In addition, pathogenic mutations in multiple genes, including those frequently associated with squamous cell carcinoma (e.g., <i>NOTCH1</i>), were identified. The molecular data was also analyzed by “Caris MI GPSai,” a machine-learning algorithm that compares the neoplasm's gene expression and mutational profile against an extensive reference database of genomic and transcriptomic alterations observed in various neoplasms. This predicted the cancer to be cutaneous squamous cell carcinoma with a 66% probability, enabling appropriate treatment for the patient. This case highlights the deceptive morphology of cutaneous squamous cell carcinoma with perineural spread and demonstrates how molecular profiling with machine learning can aid in achieving a definitive diagnosis.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 9","pages":"568-573"},"PeriodicalIF":1.1,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cup.14832","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144528203","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":"Clinical, Serologic, and Histopathologic Features of Patients With Pemphigus With Either Positive or Negative IgG4 Intercellular Deposition by Direct Immunofluorescence (DIF): A Retrospective Case–Control Study of 55 DIF Biopsy Specimens","authors":"Clint Christian T. Garbanzos,&nbsp;Austin Todd,&nbsp;Heather D. Hardway,&nbsp;Julia S. Lehman","doi":"10.1111/cup.14835","DOIUrl":"10.1111/cup.14835","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Intercellular IgG4 deposition is variably present on DIF in patients with pemphigus. Whether this feature has clinical, serologic, or histopathologic correlates was unknown.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We identified 34 patients with pemphigus who had 55 DIF specimens reported to show intercellular IgG, IgG4, and/or C3 deposition (8/22/2017–11/30/2023). Patients and biopsies were stratified by intercellular IgG4 status. Clinical and serologic data were extracted from electronic records, and corresponding biopsy slides were reviewed for histopathologic findings.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among the 34 patients with pemphigus, patients with positive IgG4 were significantly more likely to have detectable serum anti-desmoglein 1/3 antibodies by ELISA (<i>p</i> = 0.014 and <i>p</i> = 0.030, respectively). Paraneoplastic pemphigus (PNP) was more frequent in the IgG4-negative group (<i>p</i> = 0.037), particularly among patients with ocular involvement. Of 55 DIF biopsy specimens meeting inclusion criteria, 52 (94.5%) had intercellular IgG deposition and 42 (76.4%) had intercellular IgG4 on DIF. Compared to IgG4-negative specimens, IgG4-positive specimens were significantly more likely to represent a vesiculobullous lesion (<i>p</i> = 0.024), to be derived from the trunk (<i>p</i> = 0.047), to show histologic acantholysis (<i>p</i> = 0.019) and to lack lichenoid inflammation (<i>p</i> = 0.0004).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>For pemphigus, DIF IgG4 status correlated with ocular involvement, the clinical morphology selected for biopsy, the likelihood of detecting circulating desmoglein antibodies, the presence of specific histopathologic features such as acantholysis and lichenoid inflammation, and the likelihood of having a final diagnosis of PNP. Further studies are needed to determine whether the presence of tissue-bound intercellular IgG4 antibodies correlates with particular disease variants or lesion-specific characteristics.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 9","pages":"580-589"},"PeriodicalIF":1.1,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144484570","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":"An Unusual Case of Cutaneous Langerhans Cell Sarcoma Lacking S100 Expression: A Case Report and Review of the Literature","authors":"Randa Obid,&nbsp;Austin R. Green,&nbsp;Sion W. Jasmine,&nbsp;Rachel P. Kowal,&nbsp;Brooj Abro,&nbsp;Laura M. Warmke,&nbsp;Magdalena B. Czader,&nbsp;Ahmed K. Alomari,&nbsp;Carina A. Dehner","doi":"10.1111/cup.14833","DOIUrl":"10.1111/cup.14833","url":null,"abstract":"<p>Langerhans cell sarcoma (LCS) is a rare neoplastic proliferation of Langerhans cell with aggressive clinical behavior and involves multiple organ systems, including the skin. LCS is characterized by marked cytologic atypia, frequent mitoses including atypical ones, and expression of CD1a, S100, and langerin (CD207). CD1a and Langerin-positive but S100− negative LCS is extremely rare in clinical practice. We present a case of a 71-year-old female with a history of melanoma and atypical fibroxanthoma who presented with an erythematous plaque on her left knee. Histopathologic examination revealed a dermal infiltrate comprised of large pleomorphic cells with irregular nuclear contours, prominent longitudinal grooves, and vesicular chromatin, and a high mitotic rate. Notably, there were epidermotropism and a distinctive immunohistochemical profile: S100−, CD1a+, Langerin+, and focal CD68+. Next-generation sequencing identified copy number loss of <i>CDKN2A</i>, <i>CDKN2B</i>, and <i>FOXA1</i>, mutations in <i>TP53</i>, <i>POT1</i>, <i>SH2B3</i>, and <i>SMARCA4</i>, and a high tumor mutational burden. Herein, we discuss the clinical and pathologic features of 38 cases of LCS with cutaneous involvement reported in the literature, including recent advances in understanding molecular characteristics of this disease. This exceptional case may contribute to our understanding of the etiology of this rare neoplasm.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 9","pages":"554-567"},"PeriodicalIF":1.1,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cup.14833","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144484569","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}