Journal of Cutaneous Pathology最新文献

{"title":"A Patient With Concurrent Hidradenitis Suppurativa and Porokeratosis Palmaris et Plantaris Disseminata: Case Report and Review of Autoinflammatory Keratinization Diseases","authors":"Meredith C. Rogers,&nbsp;Mark Ash,&nbsp;Amanda Hernandez,&nbsp;Gregory A. Hosler","doi":"10.1111/cup.14774","DOIUrl":"10.1111/cup.14774","url":null,"abstract":"<p>The term autoinflammatory keratinization diseases (AIKDs) was recently proposed as a unifying concept for diseases characterized by inflammation in the epidermis and upper dermis which leads to hyperkeratosis, caused by genetic perturbations of the innate immune system. We present a case of a patient with hidradenitis suppurativa and porokeratosis, two AIKDs, followed by a review of these conditions as well as other AIKDs. This case was distinguished by hypertrophic porokeratoses involving cystic hair follicles, showing histopathologic features of both conditions within single biopsy specimens. The patient's course was additionally complicated by SCC arising within a porokeratosis. Our case demonstrates a rare overlap of two AIKDs, occurring not only within the same patient but also within the same lesions.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 4","pages":"272-277"},"PeriodicalIF":1.6,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cup.14774","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142921829","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":"Granuloma Annulare Arising in a Becker Nevus","authors":"Adam H. Krouse,&nbsp;Brandon Zelman,&nbsp;Jenna J. Lullo,&nbsp;Jodi J. Speiser","doi":"10.1111/cup.14784","DOIUrl":"10.1111/cup.14784","url":null,"abstract":"","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 5","pages":"339-341"},"PeriodicalIF":1.6,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142927210","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":"The Diagnostic Utility of PRAME in Primary Cutaneous Dedifferentiated and Transdifferentiated Melanomas","authors":"Audrey Choy,&nbsp;Alex Wang,&nbsp;Ganesha K. Thayaparan,&nbsp;Luke Beaumont,&nbsp;Richard Williams,&nbsp;Sara Diab,&nbsp;George Tzaikou,&nbsp;Ayesha Ajmal,&nbsp;Alexander Nirenberg","doi":"10.1111/cup.14783","DOIUrl":"10.1111/cup.14783","url":null,"abstract":"<div>\u0000 \u0000 <p>Melanomas show a wide spectrum of clinical, morphological, immunohistochemical, and molecular features, which can impact treatment and prognosis. Dedifferentiated and transdifferentiated melanomas (DTM) are defined as melanomas which have lost conventional melanocytic morphologic and immunohistochemical features, showing sarcomatous morphology and/or immunohistochemical staining of other cell lineages, and as such, can be mistaken for other entities such as collision tumors and undifferentiated spindle cell tumors. In this series, we highlight the utility of preferentially expressed antigen in melanomas (PRAME) in diagnosing undifferentiated/dedifferentiated melanomas. Case 1 is a lentigo maligna melanoma with dedifferentiation on the scalp of an 85-year-old. Case 2 is a desmoplastic melanoma with leiomyosarcomatous transdifferentiation on the cheek of an 80-year-old. Case 3 is a desmoplastic melanoma with rhabdomyosarcomatous transdifferentiation arising from the temple of an 88-year-old. In all cases, conventional melanocytic immunohistochemical markers were positive in the conventional melanoma and negative in the dedifferentiated/transdifferentiated areas. However, PRAME was positive in both the conventional and dedifferentiated areas with varying intensity. Although PRAME immunoreactivity can be seen in other malignant spindle cell tumors, this study highlights the potential utility of PRAME immunohistochemistry when considering a diagnosis of DTM.</p>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 3","pages":"212-219"},"PeriodicalIF":1.6,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142921831","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":"Rethinking the Semantics of “Cutaneous Squamous Cell Carcinoma In Situ”","authors":"Muhammad H. Junejo,&nbsp;Catherine A. Harwood,&nbsp;Christine J. Ko","doi":"10.1111/cup.14780","DOIUrl":"10.1111/cup.14780","url":null,"abstract":"","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 5","pages":"336-338"},"PeriodicalIF":1.6,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142909741","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":"Dermal CIC-Rearranged Sarcoma With Neuroendocrine Differentiation Mimicking Merkel Cell Carcinoma","authors":"Timothy Freeman,&nbsp;Kelsey Wilson,&nbsp;Kristopher McKay","doi":"10.1111/cup.14781","DOIUrl":"10.1111/cup.14781","url":null,"abstract":"<div>\u0000 \u0000 <p>Capicua transcriptional repressor (CIC)-rearranged sarcoma (CRS) is a rare and recently described tumor that most commonly affects patients between 15 and 30 years of age. It is an undifferentiated round cell malignancy, with a disease defining CIC fusion, with double homeobox 4 (<i>DUX4</i>) being the most common partner. Here, we report a 77-year-old woman who presented with a cutaneous thigh mass with a clinical morphology suggesting Merkel cell carcinoma. Immunohistochemically, there was positivity for INSM1 (extensive) and synaptophysin (patchy) and granular expression of neurofilament (extensive), CAM5.2, and CK20 (focal, nonspecific). The majority of the tumor showed histopathologic features within the range of what can be seen in Merkel cell carcinoma, but there were divergent features, including a myxoid zone with corded and stranded tumor cells and a Ewing-sarcoma-like zone with confluent concentric membranous CD99 expression. WT-1 was strongly expressed, prompting RNA-based next generation sequencing for gene fusions, which identified the CIC:DUX4 [t(19;4)(19q13.2;4q35.2)]. A novel IRAK3:HMGA2 fusion was also identified. This example of CRS simulated MCC clinically, histopathologically, and immunohistochemically and represents a likely underrecognized diagnostic pitfall.</p>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 3","pages":"206-211"},"PeriodicalIF":1.6,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142906726","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":"Fatal Spitz Melanoma With MAD1L1::BRAF Fusion: A Case Report and Literature Review","authors":"Tsubasa Hiraki,&nbsp;Satoshi Hirakawa,&nbsp;Yoshiro Otsuki,&nbsp;Kazuyoshi Kajimoto,&nbsp;Keisuke Goto,&nbsp;Masakuni Serizawa","doi":"10.1111/cup.14779","DOIUrl":"10.1111/cup.14779","url":null,"abstract":"<div>\u0000 \u0000 <p>Spitz melanoma is extremely rare, and only a few cases of distant metastases have been reported. Herein, we describe a case of Spitz melanoma with multiple distant metastases. A 37-year-old woman presented with a 5.5-mm-diameter nodule on the right lower leg. She experienced multiple distant metastases, involving the lungs, liver, thyroid, stomach, ovary, bones, and skin, along with multiple lymph node metastases within 1 year. The patient succumbed to the disease 1 year and 6 months following the first excision. Histopathological examination revealed a dense distribution of large solid nests comprising large, atypical epithelioid melanocytes with abundant eosinophilic cytoplasm in the upper dermis. Diffuse PRAME and loss of p16 immunoexpression profiles were observed. Targeted DNA and Sanger sequencing revealed an in-frame <i>MAD1L1</i>(e16)<i>::BRAF</i>(e9) fusion in both primary tumor and metastatic subcutaneous lesion. A review of previously reported cases confirmed as Spitz melanoma with distant metastases (<i>n</i> = 7) revealed a broad age range (11–71 years, median 46 years), high mortality (5/7), frequent <i>BRAF</i> fusions (6/7), and recurrent <i>TERT</i> promotor mutations and <i>CDKN2A/B</i> deletions. This report adds valuable insights into our understanding of the clinical and genetic characteristics of Spitz melanoma with distant metastases.</p>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 3","pages":"199-205"},"PeriodicalIF":1.6,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142894916","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 Systemic Amyloidosis Characterized by Multiple Keratinous Cysts: A Case Report","authors":"Xiaoou Lu,&nbsp;Weiwei Fu,&nbsp;Demin Xie,&nbsp;Fengjuan Li,&nbsp;Jiali Zhang,&nbsp;Da Wang,&nbsp;Yu Sun,&nbsp;Hongquan Chen","doi":"10.1111/cup.14763","DOIUrl":"10.1111/cup.14763","url":null,"abstract":"<div>\u0000 \u0000 <p>A 67-year-old male presented with plaques around the orbit and ecchymosis on the neck and back of hands for 2 years. Physical examination showed seborrheic-keratosis-like plaques around the orbit, ecchymosis on the neck and back of hands, as well as nail dystrophy. Serum λ light chain was positive. Histopathological examination demonstrated multiple keratinous cysts in the dermis and eosinophilic homogeneous material in the dermis, which was positive for Congo red with apple-green birefringence on polarized light. Kidney biopsy showed deposition of acellular eosinophilic material in the arteriole wall. Congo red staining was positive. A bone marrow biopsy revealed multiple myeloma. The diagnosis of primary systemic amyloidosis with multiple myeloma was made.</p>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 3","pages":"194-198"},"PeriodicalIF":1.6,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142864388","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":"Detecting Monkeypox Virus by Immunohistochemistry","authors":"Spencer Ng,&nbsp;Carla Stephan,&nbsp;Mytrang Do,&nbsp;Denise Frosina,&nbsp;Achim Jungbluth,&nbsp;Klaus J. Busam,&nbsp;Linglei Ma","doi":"10.1111/cup.14776","DOIUrl":"10.1111/cup.14776","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Mpox (formerly known as monkeypox), a zoonotic disease caused by <i>Monkeypox</i> virus (<i>MPXV</i>), has become an international outbreak since May 2022. Mpox often presents with a mild systemic illness and a characteristic vesiculopustular skin eruption. In addition to molecular testing, histopathology of cutaneous lesions usually shows distinctive findings, such as epidermal necrosis, balloon degeneration, papillary dermal edema, and focal dermal necrosis, which have proven helpful in the diagnosis of mpox. Viral cytopathic changes with areas of multinucleation, smudging of the nuclei, and intracytoplasmic inclusions have also been described. Although useful, these features are relatively nonspecific. The use of a monoclonal antibody for immunohistochemical (IHC) staining of <i>MPXV</i> may be a useful tool in confirming mpox infection.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Three cases of PCR-confirmed mpox were biopsied and subjected to IHC staining with a monoclonal <i>MPXV</i>-specific antibody targeting viral envelope protein A29. As controls, cell lines transduced to express other <i>MPXV</i> viral antigens and samples of cutaneous viral infections involving <i>Molluscum contagiosum</i>, <i>Herpes simplex</i>, <i>Herpes zoster</i>, or <i>Cytomegalovirus</i> were also subjected to IHC staining with this antibody.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>All three mpox patient biopsies performed on lesional skin subjected to <i>MPXV</i> IHC staining reliably detected viral infection in lesional skin with a diffuse cytoplasmic and focally nuclear staining pattern. No staining was seen in transduced cell lines expressing off-target <i>MPXV</i> viral antigens and in lesional skin of other common viral infections listed above.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The monoclonal <i>MPXV</i>-specific antibody may be used as an adjunct tool to confirm mpox infection.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 3","pages":"244-249"},"PeriodicalIF":1.6,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cup.14776","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854034","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":"Extensive Leg Ulcers in a Patient With Monoclonal Gammopathy","authors":"Carlos Manuel Martorell Moreau,&nbsp;Beatriz Bartolomé González,&nbsp;Alberto Danilo Escobar Oblitas,&nbsp;Carlos Saus Sarrias","doi":"10.1111/cup.14777","DOIUrl":"10.1111/cup.14777","url":null,"abstract":"<div>\u0000 \u0000 <p>A 60-year-old male was admitted from the emergency department with extensive leg ulcers and polyarticular joint pain. Cryocrystalglobulinemia was diagnosed through positive cryoglobulin studies and characteristic histopathological findings. Treatment with bortezomib led to complete clinical resolution. Cryocrystalglobulinemia poses diagnostic and management challenges, highlighting the importance of interdisciplinary collaboration for optimal patient care.</p>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 3","pages":"173-176"},"PeriodicalIF":1.6,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142846843","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":"Cytokine Profiling of Erythroderma Biopsies Reveals Types 2 and 17 Immune Activation Status","authors":"Tatsiana Pukhalskaya,&nbsp;Mitchell Finkelstein,&nbsp;Dacia A. Miyake-Caballero,&nbsp;Michael T. Tetzlaff,&nbsp;Jeffrey P. North,&nbsp;Jarish N. Cohen","doi":"10.1111/cup.14775","DOIUrl":"10.1111/cup.14775","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Erythroderma is a dermatologic condition characterized by widespread red and scaly skin. The causes include, but are not limited to, psoriasis, eczema, drug eruptions, pityriasis rubra pilaris (PRP), and cutaneous T-cell lymphoma. Most of these are typified by Type 2 (e.g., eczema) or Type 17 (e.g., psoriasis) immune activation. However, since the clinicopathologic features of erythroderma can be nonspecific, assays that determine the underlying immune activation status are desirable.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>IL-13 RNA in situ hybridization and IL-36 immunohistochemistry were performed on 30 specimens of erythroderma, to ascertain Type 2 and Type 17 immune signatures, respectively.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Specimens of erythrodermic psoriasis and PRP showed strong expression of IL-36 and less than one IL-13-positive cell per millimeter. Conversely, those of spongiotic dermatitis showed low expression of IL-36 and greater than one IL-13-positive cell per millimeter. Most specimens of spongiotic, psoriasiform dermatitis demonstrated low IL-36 expression and greater than one IL-13-positive cell per millimeter, but a subset showed high IL-36 expression and greater than one IL-13-positive cell per millimeter.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>We developed a Type 2/17 immune signature classifier based on cytokine profiling, which showed that cases of erythroderma fall within distinct categories of immune activation. This categorization may have utility in guiding clinical decisions.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 3","pages":"235-243"},"PeriodicalIF":1.6,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813377","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}