{"title":"Reactive Eccrine Syringofibroadenoma in Association With an Atrophic Dermatofibroma.","authors":"Hongxia Jia, Runping Yang, Liwei Ran","doi":"10.1097/DAD.0000000000002815","DOIUrl":"10.1097/DAD.0000000000002815","url":null,"abstract":"","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":"e38-e40"},"PeriodicalIF":1.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141983850","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}
Anna Sarah Erem, Josephine Chu McAllister, Brian Quattrochi, Alejandro A Gru
{"title":"Successful Treatment of Primary Acanthamoeba Cutis in a Patient With Chronic Lymphocytic Leukemia on Acalabrutinib.","authors":"Anna Sarah Erem, Josephine Chu McAllister, Brian Quattrochi, Alejandro A Gru","doi":"10.1097/DAD.0000000000002903","DOIUrl":"10.1097/DAD.0000000000002903","url":null,"abstract":"<p><strong>Abstract: </strong>Primary cutaneous amoebiasis is rare, and typically affects immunocompromised patients and presents with unique clinical and histopathologic changes. Untreated, the infection could progress to involve the central nervous system, which is almost universally fatal. We present a case of primary cutaneous acanthamoebiasis in a patient with chronic lymphocytic leukemia on acalabrutinib. Timely diagnosis and treatment resulted in complete resolution of lesions and a disease-free status at the 14-month follow-up. A 76-year-old man presented with a 2-month history of multiple, nonhealing, ulcerated, erythematous, painful, crusted nodules on his trunk, and upper and lower extremities. Two punch biopsies showed mixed inflammatory infiltrate with a histiocytic reaction and microabscesses extending into the deep dermis. Rare, unusual structures with cytoplasmic vacuolations and round nuclei were seen on repeated biopsies. Gomori methenamine silver delineated wrinkled double-walled cytoplasm of rare parasites, concerning for amoebic infection. Molecular workup (polymerase chain reaction) came back positive for Acanthamoeba castellanii . Initial treatment involved flucytosine and fluconazole, followed by fluconazole and miltefosine, but both were discontinued because of nausea and replaced with single-agent voriconazole. Acanthamoeba cutis poses unique diagnostic challenges in a setting of novel agents for chronic lymphocytic leukemia and may be underrecognized. With the expanding population of immunocompromised patients, rare cutaneous infections should enter the differential early on along with early consideration of molecular ancillary testing. The long-term immunomodulating properties of acalabrutinib remain to be elucidated.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":"224-232"},"PeriodicalIF":1.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142928571","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}
Scott Potter, Evin Gulbahce, Jane Porretta, Lesley Lomo, Keith Duffy, Nicole Winkler, Joshua Coleman, Jolanta Jedrzkiewicz
{"title":"Invasive Squamous Cell Carcinoma of the Nipple: Case Report With Literature Review.","authors":"Scott Potter, Evin Gulbahce, Jane Porretta, Lesley Lomo, Keith Duffy, Nicole Winkler, Joshua Coleman, Jolanta Jedrzkiewicz","doi":"10.1097/DAD.0000000000002880","DOIUrl":"10.1097/DAD.0000000000002880","url":null,"abstract":"<p><strong>Abstract: </strong>In this unusual case, a 73-year-old woman presented with bloody discharge from her right breast and skin thickening was observed on subsequent imaging. Clinically, the findings raised concern for Paget disease. A skin punch biopsy was performed, revealing a high-grade infiltrating carcinoma with squamous features. Metaplastic carcinoma was a differential diagnosis, given that this patient had a history of invasive ductal carcinoma and radiation treatment in the same breast. A subsequent central lumpectomy confirmed the diagnosis of invasive squamous cell carcinoma of the nipple, occurring in the context of Bowen disease as a precursor lesion. Notably, there was no evidence of ductal carcinoma in situ in the background breast tissue or conventional invasive ductal carcinoma component. Both in situ and invasive forms of squamous cell carcinomas have been rarely reported in the nipple. This case highlights the importance of considering such a rare diagnosis, especially in patients with a history of breast cancer.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":"220-223"},"PeriodicalIF":1.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142814996","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}
Anshuman Dash, Sushruta Kathuria, Amit Kumar Yadav
{"title":"Dermoscopy of Zosteriform Cutaneous Metastasis From Breast Adenocarcinoma.","authors":"Anshuman Dash, Sushruta Kathuria, Amit Kumar Yadav","doi":"10.1097/DAD.0000000000002891","DOIUrl":"10.1097/DAD.0000000000002891","url":null,"abstract":"","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":"248-249"},"PeriodicalIF":1.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142958461","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}
Yan Gao, Richard K Yang, Jonathan L Curry, Carlos A Torres-Cabala, Woo Cheal Cho
{"title":"Melanoma With RNF11::BRAF Fusion: A Novel Fusion Previously Undescribed in Melanoma.","authors":"Yan Gao, Richard K Yang, Jonathan L Curry, Carlos A Torres-Cabala, Woo Cheal Cho","doi":"10.1097/DAD.0000000000002936","DOIUrl":"https://doi.org/10.1097/DAD.0000000000002936","url":null,"abstract":"<p><strong>Abstract: </strong>B-Raf Proto-Oncogene (BRAF) fusions are rare in melanomas. We present a case of cutaneous melanoma with a Ring Finger Protein 11 (RNF11)::BRAF fusion in a 63-year-old man with a history of stage IB melanoma on the right upper back (pT2apN0cM0; nonulcerated with a Breslow thickness of 1.2 mm). Despite initial treatment, the melanoma progressed to multiple metastases. Histopathologically, the tumor cells exhibited epithelioid and rhabdoid morphologies, with occasional giant pleomorphic cells and multinucleation, and were positive for antimelanocytic cocktail (HMB45, Melan-A, tyrosinase) and S100. Next-generation sequencing of a metastatic specimen identified an RNF11::BRAF fusion and TERT promoter mutation, but no other somatic mutations (eg, BRAF, NRAS, KIT) or copy number variations were detected. The patient died to melanoma approximately 58 months after initial diagnosis, despite several lines of systemic therapy, including immunotherapies and a mitogen-activated protein kinases 1 and 2 inhibitor. RNF11::BRAF fusions are known oncogenic drivers in histiocytic disorders such as Erdheim-Chester disease and non-Langerhans cell histiocytosis. Although BRAF fusions are commonly observed in Spitz melanocytic neoplasms, the discovery of the RNF11::BRAF fusion in melanomas is unprecedented. Our case represents a triple wild-type, clinically aggressive melanoma of possibly non-Spitz lineage with an ultraviolet signature and a rare BRAF fusion, contributing to the expanding body of literature on BRAF-fused melanomas.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557721","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}
Joyce B Kang, Arianna F Yanes, Ramone F Williams, Victor A Neel
{"title":"Rosuvastatin Is Associated With Incidental Dermal Calcification.","authors":"Joyce B Kang, Arianna F Yanes, Ramone F Williams, Victor A Neel","doi":"10.1097/DAD.0000000000002951","DOIUrl":"10.1097/DAD.0000000000002951","url":null,"abstract":"","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143558382","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}
Shira Ronen, Daniel Stieber, Mary Ferrier, Adrián Nogales-Moro, Ignacio Pinilla-Pagnon, Steven D Billings, Francesco Feoli
{"title":"Matrical Tumors: A Comparative Molecular Analysis of Six Cases With Histological Correlations.","authors":"Shira Ronen, Daniel Stieber, Mary Ferrier, Adrián Nogales-Moro, Ignacio Pinilla-Pagnon, Steven D Billings, Francesco Feoli","doi":"10.1097/DAD.0000000000002949","DOIUrl":"https://doi.org/10.1097/DAD.0000000000002949","url":null,"abstract":"<p><strong>Abstract: </strong>Pilomatrical tumors include pilomatricoma, melanocytic matricoma, and pilomatrical carcinoma. Similar to the normal anagen hair follicle bulb, they may be associated with benign and, rarely, with atypical pigmented dendritic melanocytes. It has been recently suggested that the term \"melanocytic matricoma\" be replaced with \"pilomatricoma with melanocytic hyperplasia\" (PMMH). Occasional cases of PMMH show intermediate grades of histological atypia. Their clinical behavior is uncertain. Interestingly, we found in one of these atypical tumors a molecular characterization compatible with a malignant profile. In this study, we compare this case with the molecular profiles of two PMMHs, one atypical PMMH, whose histology was previously published, and of two unpublished cases: a pilomatrical carcinoma and a large matrical tumor of difficult categorization. We also correlate histology with the molecular results. Although histologically the six cases form a morphological continuum with increasing grades of architectural and cytological atypia, our molecular analysis distinctly segregates the lesions into two molecular groups. The first group exhibits only isolated alterations in CTNNB1, a low tumor mutational burden, and a relatively stable chromosomal profile. The second group, by contrast, demonstrates mutations of TP53, biallelic inactivation of CDKN2A or RB1, and an elevated tumor mutational burden, in addition to mutations in CTNNB1 or loss of APC. The tumors in the second group are clearly different from the benign PMMHs. Atypical PMMHs could represent an early stage in the development of tumors that, since their beginning, have a malignant molecular profile different from that of PMMHs and can progressively drive their evolution toward overt malignancy.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143558659","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}
Volha Lenskaya, Richard K Yang, Phyu P Aung, Victor G Prieto, Priyadharsini Nagarajan, Woo Cheal Cho
{"title":"NSD3::FGFR1: A Novel Gene Fusion First to Be Described in Merkel Cell Carcinoma.","authors":"Volha Lenskaya, Richard K Yang, Phyu P Aung, Victor G Prieto, Priyadharsini Nagarajan, Woo Cheal Cho","doi":"10.1097/DAD.0000000000002953","DOIUrl":"https://doi.org/10.1097/DAD.0000000000002953","url":null,"abstract":"<p><strong>Abstract: </strong>Merkel cell carcinomas (MCCs) exhibit diverse molecular profiles, often categorized by their association with Merkel cell polyoma virus (MCPyV). MCPyV-associated MCCs typically display a low tumor mutational burden (TMB), lacking both somatic mutations and ultraviolet signature. By contrast, MCPyV-negative MCCs commonly arise in sun-exposed skin and frequently exhibit a high TMB, along with TERT promoter mutation (TPM) and somatic mutations, particularly in TP53 and RB1. Gene fusions are exceedingly rare in MCCs, and their specific frequency and fusion transcripts remain largely unexplored. Here, we present a unique case of MCPyV-associated MCC characterized by NSD3::FGFR1 fusion, representing a novel fusion transcript not previously reported in MCCs. A 72-year-old White man presented with a cyst-like nodule on the left elbow, which had progressively increased in size over a span of 6 months. Excisional biopsy specimen revealed a neuroendocrine carcinoma diffusely expressing CK20 (perinuclear dot-like), synaptophysin, CD56, NSE, and MCPyV, consistent with MCC. Next-generation sequencing identified a NSD3::FGFR1 fusion without any additional somatic mutations, including TP53 and RB1 mutations, or TPM. Although NSD3::FGFR1 fusion has been sporadically reported in other solid tumors, such as pulmonary squamous cell carcinoma, its identification in an MCC is unprecedented to our knowledge. This novel finding not only underscores the uniqueness of our case but also contributes to the evolving understanding of the molecular landscape of MCCs, particularly MCPyV-associated MCCs.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143558044","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}
Celine M Schreidah, Blair A Jenkins, Megan H Trager, Sameera Husain, Alexandra J Coromilas, Joyeeta G Dastidar, Benjamin A Miko, Jason Zucker, Stephanie M Gallitano
{"title":"Atypical Mpox Cutaneous Presentation After Full Vaccination.","authors":"Celine M Schreidah, Blair A Jenkins, Megan H Trager, Sameera Husain, Alexandra J Coromilas, Joyeeta G Dastidar, Benjamin A Miko, Jason Zucker, Stephanie M Gallitano","doi":"10.1097/DAD.0000000000002945","DOIUrl":"https://doi.org/10.1097/DAD.0000000000002945","url":null,"abstract":"<p><strong>Abstract: </strong>In 2022-2023 mpox outbreak led to declaration of a public health emergency. Smallpox vaccination has led to increased immunity and a decrease in clinical disease. The role of vaccination in immunosuppressed patients is not well understood. We present an atypical case of cutaneous mpox, presenting in a fully vaccinated, immunosuppressed, HIV-negative patient as an initial isolated, subcutaneous neck mass. We review the diagnostic dilemma and workup for these atypical cases.</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":"143473286","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}
Emanuele Frigo, Astrid Lammertyn, Birgit Reyn, Marjan Garmyn, Esther Hauben, Francesca Maria Bosisio
{"title":"Travelers From the Intestine to the Skin: A Useful Clue to Diagnose a Cryptic Histoplasma Infection.","authors":"Emanuele Frigo, Astrid Lammertyn, Birgit Reyn, Marjan Garmyn, Esther Hauben, Francesca Maria Bosisio","doi":"10.1097/DAD.0000000000002901","DOIUrl":"https://doi.org/10.1097/DAD.0000000000002901","url":null,"abstract":"<p><strong>Abstract: </strong>A 53-year-old woman from Missouri (United States) with a 2-year history of kidney transplant presented to our dermatology department with multiple acneiform lesions on the face and numerous erythematous papules and nodules on both arms and legs. Biopsies revealed a very atypical florid pseudoepitheliomatous hyperplasia, at first interpreted, in light of the history of immunosuppression, as an invasive squamocellular carcinoma, associated with an unusual dense histiocytic infiltrate and nodular aggregates of foamy histiocytes. After the acute onset of fever, pancytopenia, and signs of ulcerative colitis, disseminated histoplasmosis was suspected. A biopsy taken from a rectal ulcer revealed numerous histiocytes with intracellular yeasts that were positive for periodic acid-Schiff and Grocott-Gomori methenamine silver fungal stains. Antifungal therapy with amphotericin B and itraconazole led to the healing of the skin lesions with scarring and postinflammatory hyperpigmentation. This case is an exceptional example that warns pathologists that (1) florid pseudoepitheliomatous hyperplasia can be undistinguishable from invasive squamocellular carcinoma, and complete excision of fast-growing lesions is always advised in case of doubt; (2) a dense infiltrate of foamy histiocytes may be the spy to a systemic infection, and a careful clinical and pathologic screening should be promptly initiated.</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":"143473311","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}