American Journal of Dermatopathology最新文献

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Solar Elastotic Band: An Uncommon Reaction Pattern on Marked Sun-Damaged Skin That Shares Features With Keratoelastoidosis Marginalis. 太阳弹性带:一种罕见的反应模式,在明显的太阳损伤皮肤,与边缘类角膜弹性病有共同的特征。
IF 1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-10-09 DOI: 10.1097/DAD.0000000000003153
Caroline Kominick, Camille Moeckel, Klaus F Helm, Lulit Price, Thomas N Helm
{"title":"Solar Elastotic Band: An Uncommon Reaction Pattern on Marked Sun-Damaged Skin That Shares Features With Keratoelastoidosis Marginalis.","authors":"Caroline Kominick, Camille Moeckel, Klaus F Helm, Lulit Price, Thomas N Helm","doi":"10.1097/DAD.0000000000003153","DOIUrl":"https://doi.org/10.1097/DAD.0000000000003153","url":null,"abstract":"<p><strong>Abstract: </strong>Solar elastotic bands (Raimer's bands) represent a rare clinical variant of severe solar elastosis that often affects forearms. Solar elastotic bands and keratoelastoidosis marginalis are associated with extensive chronic sun exposure (actinic damage). Repetitive trauma is also suspected of playing a causative role. We present a case of solar elastotic band of the forearm in which cytokeratin AE1/AE3 stains reveal positive staining in the dermis. This finding supports the hypothesis that trauma plays a role. We explore and review the histologic and clinical findings of several forms of solar elastosis, suggesting that these entities share many features in common.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145253698","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
Pediatric CD4+ Small Medium Sized Pleomorphic T-cell Lymphoproliferative Disorder: A Unique Indolent Lymphoproliferative Lesion With Consistent Reproducible Clinical and Phenotypic Features. 儿童CD4+中小型多形性t细胞淋巴增生性疾病:一种独特的惰性淋巴增生性病变,具有一致的可重复性临床和表型特征。
IF 1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-10-01 Epub Date: 2025-07-24 DOI: 10.1097/DAD.0000000000002956
Xing Li, Cynthia M Magro
{"title":"Pediatric CD4+ Small Medium Sized Pleomorphic T-cell Lymphoproliferative Disorder: A Unique Indolent Lymphoproliferative Lesion With Consistent Reproducible Clinical and Phenotypic Features.","authors":"Xing Li, Cynthia M Magro","doi":"10.1097/DAD.0000000000002956","DOIUrl":"10.1097/DAD.0000000000002956","url":null,"abstract":"<p><strong>Abstract: </strong>Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoproliferative disorder (CD4+ PCSM-LPD) is characterized by its indolent course and favorable prognosis, distinguishing it from multifocal variants or other peripheral T-cell lymphomas. Pediatric cases are exceptionally rare, with only 9 pediatric cases documented, limiting understanding of their clinical, pathological, and molecular characteristics. Although recent studies propose a T follicular helper cell (TFH) origin, further investigation is necessary to substantiate this hypothesis and elucidate the pathogenesis of CD4+ PCSM-LPD in pediatric patients. We conducted a systematic literature review (6 studies documenting 9 cases) and retrospective chart review of pediatric CD4+ PCSM-LPD cases (≤21 years) diagnosed at Weill Cornell Medicine between 2010 and 2024 (4 cases). All 13 cases presented with solitary lesions, lacking the head and neck predominance observed in adult patients. Treatments included intralesional steroids, excision, and local radiation, with no recurrences. Histopathology mirrored adult cases, showing characteristic features of CD4+ PCSM-LPD. Nonspecific TFH markers (PD-1, BCL-6, ICOS) exhibited variable positivity, whereas specific markers (CD10, CXCL13) were predominantly negative. CD4+ PCSM-LPD is a rare entity that can potentially occur in pediatric patients, exhibiting clinical, histopathological, and phenotypic features similar to adult cases. However, the hypothesis of follicular helper T-cell ontogeny is questioned, as specific markers are usually absent, whereas commonly reported positive stains are not specific for follicular helper T cells. This suggests a malleable CD4+ T-cell phenotype influenced by the microenvironment.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":"47 10","pages":"739-749"},"PeriodicalIF":1.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12447808/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145088035","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}
引用次数: 0
Progressive Immunotherapy-Related Mucocutaneous Eruption: A Mimicker of SJS-TEN. 进行性免疫治疗相关粘膜皮肤爆发:模拟SJS-TEN。
IF 1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-10-01 Epub Date: 2025-07-30 DOI: 10.1097/DAD.0000000000003083
Kishan A Sangani, Victoria Lee, Liesl Schroedl, Christopher R Shea, Oluwakemi Onajin, Angad A Chadha
{"title":"Progressive Immunotherapy-Related Mucocutaneous Eruption: A Mimicker of SJS-TEN.","authors":"Kishan A Sangani, Victoria Lee, Liesl Schroedl, Christopher R Shea, Oluwakemi Onajin, Angad A Chadha","doi":"10.1097/DAD.0000000000003083","DOIUrl":"10.1097/DAD.0000000000003083","url":null,"abstract":"<p><strong>Abstract: </strong>Immune checkpoint inhibitors are an integral component of oncology treatment. Adverse systemic effects of this immune modulation are often manifested in the skin and, therefore, must be carefully described and characterized to inform clinical decision making in medically complex patients. Here we report 2 cases of progressive immunotherapy-related mucocutaneous eruption that resemble Stevens-Johnson Syndrome but is unique in its clinical and histopathologic presentation, supporting a distinction from classic medication-induced Stevens-Johnson syndrome and toxic epidermal necrolysis.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":"750-753"},"PeriodicalIF":1.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144745893","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
Malignant Melanoma With Transdifferentiation Into a Ganglioneuroblastic Phenotype After Anti-PD-1 Therapy. 抗pd -1治疗后恶性黑色素瘤转分化为神经节神经母细胞表型。
IF 1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-10-01 Epub Date: 2025-07-28 DOI: 10.1097/DAD.0000000000003080
Madison S Harris, Claire Castaneda, Aaron Wieland, Daniel D Bennett, Alexander Birbrair, Eliza Kapinski, Mark R Albertini, Darya G Buehler, Vincent T Ma
{"title":"Malignant Melanoma With Transdifferentiation Into a Ganglioneuroblastic Phenotype After Anti-PD-1 Therapy.","authors":"Madison S Harris, Claire Castaneda, Aaron Wieland, Daniel D Bennett, Alexander Birbrair, Eliza Kapinski, Mark R Albertini, Darya G Buehler, Vincent T Ma","doi":"10.1097/DAD.0000000000003080","DOIUrl":"10.1097/DAD.0000000000003080","url":null,"abstract":"<p><strong>Abstract: </strong>The clinicopathologic spectrum of dedifferentiated, undifferentiated, and transdifferentiated melanoma occurring de novo or following systemic therapy is gaining recognition. Here, we present a patient with locally advanced cutaneous melanoma who received neoadjuvant anti-PD-1 therapy and whose post-treatment excisional pathology revealed transdifferentiation into a ganglioneuroblastic phenotype. This rare phenotype is hypothesized to be connected to melanoma's shared origin from pluripotent neural crest cells. This case report highlights the proposed pathogenic mechanisms underlying this transition after immune checkpoint therapy, including the pathways and factors that affect the tumor and its microenvironment.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":"e121-e124"},"PeriodicalIF":1.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144735122","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
Merkel Cell Carcinoma Arising in Combination With Basal Cell Carcinoma: A Rare Diagnosis and Potential Pitfall. 默克尔细胞癌合并基底细胞癌:一个罕见的诊断和潜在的陷阱。
IF 1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-10-01 Epub Date: 2025-07-03 DOI: 10.1097/DAD.0000000000003052
Katharina Janda, Sena Zengin, Nicholas Zoumberos, Sara Shalin
{"title":"Merkel Cell Carcinoma Arising in Combination With Basal Cell Carcinoma: A Rare Diagnosis and Potential Pitfall.","authors":"Katharina Janda, Sena Zengin, Nicholas Zoumberos, Sara Shalin","doi":"10.1097/DAD.0000000000003052","DOIUrl":"10.1097/DAD.0000000000003052","url":null,"abstract":"<p><strong>Abstract: </strong>Merkel cell carcinoma (MCC) is a rare and aggressive neuroendocrine skin cancer, often associated with a poor prognosis due to its propensity for rapid growth, local recurrence, and metastasis. Combined squamous and Merkel cell carcinoma are welldescribed in the literature; however, concomitant basal cell and Merkel cell carcinoma are exceedingly uncommon. We report a 69-year-old male patient presenting with red, crusted, exophytic plaque on the right postauricular area. Further evaluation revealed nodular basal cell carcinoma (BCC) with an additional, morphologically, and immunophenotypically distinct neuroendocrine component, and areas indicating possible lymphovascular invasion. Overall, the histopathology was most compatible with a combined tumor involving Merkel cell carcinoma and basal cell carcinoma. Our case suggests that this unusual morphologic appearance of Merkel cell carcinoma can be overlooked and should be recognized when evaluating biopsies demonstrating basal cell carcinoma.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":"790-793"},"PeriodicalIF":1.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144555646","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
Utility of Immunohistochemistry in Diagnosis of Papillary Eccrine Adenoma/Tubular Apocrine Adenoma (PEA/TAA). 免疫组织化学在乳头状腺瘤/管状大汗腺瘤(PEA/TAA)诊断中的应用
IF 1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-10-01 Epub Date: 2025-07-17 DOI: 10.1097/DAD.0000000000003069
Amanda J Nguyen, Ruifeng Ray Guo, Margot S Peters
{"title":"Utility of Immunohistochemistry in Diagnosis of Papillary Eccrine Adenoma/Tubular Apocrine Adenoma (PEA/TAA).","authors":"Amanda J Nguyen, Ruifeng Ray Guo, Margot S Peters","doi":"10.1097/DAD.0000000000003069","DOIUrl":"10.1097/DAD.0000000000003069","url":null,"abstract":"<p><strong>Abstract: </strong>Papillary eccrine adenoma/tubular apocrine adenoma (PEA/TAA) is a rare sweat gland neoplasm. Because PEA/TAA shares morphologic features with other sweat gland tumors, including digital papillary adenocarcinoma, histologic diagnosis may be challenging. We report a case of PEA/TAA presenting as a nodule on the left foot of a 43-year-old man. Histopathologic examination revealed a well-circumscribed dermal proliferation of variably sized glands composed of ductal cells with an outer layer of myoepithelial cells. By immunohistochemistry, the ductal tumor cells showed strong, diffuse expression of BRAF V600E, and the myoepithelial cells were positive for p63. This case illustrates the utility of immunohistochemistry in the diagnosis of this rare neoplasm. Particularly when PEA/TAA is located on an acral site, distinction from digital papillary adenocarcinoma is critical, because these tumors show significant differences in clinical behavior.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":"808-809"},"PeriodicalIF":1.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144661002","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
Simultaneous Presentation of Cutaneous Waldenström Macroglobulinemia and Acalabrutinib-Related Toxicity. 皮肤Waldenström巨球蛋白血症和阿卡拉替尼相关毒性同时出现。
IF 1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-10-01 Epub Date: 2025-07-24 DOI: 10.1097/DAD.0000000000003077
Tania Platero-Portillo, Vicki Mercado-Evans, Nisha Ramani, Bhuvaneswari Krishnan
{"title":"Simultaneous Presentation of Cutaneous Waldenström Macroglobulinemia and Acalabrutinib-Related Toxicity.","authors":"Tania Platero-Portillo, Vicki Mercado-Evans, Nisha Ramani, Bhuvaneswari Krishnan","doi":"10.1097/DAD.0000000000003077","DOIUrl":"10.1097/DAD.0000000000003077","url":null,"abstract":"<p><strong>Abstract: </strong>Waldenström macroglobulinemia (WM) is a rare B-cell lymphoplasmacytic lymphoma associated with clonal IgM gammopathy, comprising 1%-2% of hematological malignancies. The clinical presentation exhibits diverse cutaneous manifestations, including paraproteinemia-related effects, autoimmune phenomena, and neoplastic cell infiltration. Next-generation Bruton tyrosine kinase inhibitors, such as zanubrutinib and acalabrutinib, have revolutionized WM treatment by enhancing selectivity but are associated with various dermatologic lesions. We report a case of a 74-year-old man with simultaneous presentation of cutaneous WM and an acalabrutinib-induced eruption. The drug reaction presented as blanching macules and papules, histologically showing superficial perivascular dermatitis and lymphocytic panniculitis with predominantly T cells. The cutaneous WM showed diffuse, dense dermal lymphocytic infiltrates, which were predominantly B cells. Recognizing these distinct histopathological patterns is crucial for accurate diagnosis and timely intervention. The evolving landscape of Bruton tyrosine kinase inhibitors necessitates vigilant clinical awareness of the delicate balance between harnessing therapeutic benefits and managing associated cutaneous complexities in patients with WM. In addition, these patients are susceptible to opportunistic infections. Awareness of the various cutaneous reactions and vigilant monitoring are required.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":"786-789"},"PeriodicalIF":1.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144709769","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
Accuracy of Confocal Microscopy for the Diagnosis of Acral Lentiginous Melanoma and Acral Melanocytic Nevi. 共聚焦显微镜诊断肢端色素性黑色素瘤和肢端黑色素细胞痣的准确性。
IF 1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-10-01 Epub Date: 2025-08-06 DOI: 10.1097/DAD.0000000000003099
Yunmin Zou, Lu Li, Rushan Xia, Fei Wang
{"title":"Accuracy of Confocal Microscopy for the Diagnosis of Acral Lentiginous Melanoma and Acral Melanocytic Nevi.","authors":"Yunmin Zou, Lu Li, Rushan Xia, Fei Wang","doi":"10.1097/DAD.0000000000003099","DOIUrl":"10.1097/DAD.0000000000003099","url":null,"abstract":"<p><strong>Abstract: </strong>Acral lentiginous melanoma (ALM) is a highly malignant skin tumor that is often difficult to differentiate from acral melanocytic nevi (AMN), potentially delaying diagnosis. Reflectance confocal microscopy (RCM) is a noninvasive imaging technique that produces images consistent with histopathology. However, few studies have reported on the use of RCM for the differential diagnosis of ALM and AMN. This study aimed to assess the diagnostic accuracy of RCM in differentiating ALM from AMN. This retrospective study analyzed the RCM features of ALM and AMN, assessed concordance with histopathology using Cohen kappa coefficient, and evaluated the diagnostic accuracy of RCM. Receiver operating characteristic curve analysis was also performed to assess overall diagnostic performance. ALM and AMN exhibited distinct RCM features. RCM showed high concordance with histopathology (Cohen kappa = 0.799, P < 0.001). The diagnostic accuracy of RCM was 90.3%, with a sensitivity of 91.7%, specificity of 89.5%, and an area under the curve of 0.906 (95% CI: 0.820-0.992, P < 0.001). RCM is a reliable, noninvasive tool for differentiating ALM from AMN, and may help guide clinical decision making.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":"769-774"},"PeriodicalIF":1.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144790656","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
Acute Kava (Piper Methysticum) Dermatitis With Drug Reaction With Eosinophilia and Systemic Symptoms-Like Features and Sebotropic Inflammation: A Case Series. 急性卡瓦(Piper Methysticum)皮炎伴药物反应伴嗜酸性粒细胞增多和系统性症状样特征及脂性炎症:一个病例系列。
IF 1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-10-01 Epub Date: 2025-08-04 DOI: 10.1097/DAD.0000000000003084
Tristen Tze Wei Ng, Adeline Louise Hillan, Mathew Mateen Ghodsian, Nima Mesbah Ardakani, Genevieve Sadler, Benjamin A Wood
{"title":"Acute Kava (Piper Methysticum) Dermatitis With Drug Reaction With Eosinophilia and Systemic Symptoms-Like Features and Sebotropic Inflammation: A Case Series.","authors":"Tristen Tze Wei Ng, Adeline Louise Hillan, Mathew Mateen Ghodsian, Nima Mesbah Ardakani, Genevieve Sadler, Benjamin A Wood","doi":"10.1097/DAD.0000000000003084","DOIUrl":"10.1097/DAD.0000000000003084","url":null,"abstract":"<p><strong>Abstract: </strong>The kava plant is native to the Pacific Islands. A mildly psychoactive beverage, also referred to as kava, made from the roots and stems of this plant, is widely ingested in these regions for social, cultural, and medicinal purposes. In recent years, kava extracts in various forms have been used in conventional Western and alternative medicine. Although chronic ingestion of large amounts of kava is well known to cause an icthyosiform skin condition, acute reactions are less well described. We report 3 patients of non-Pacific Islander background who developed acute reactions, clinically resembling drug reaction with eosinophilia and systemic symptoms, after commencement of kava ingestion following recent regulatory changes, making this product more widely available. In all 3 patients, skin biopsy revealed a distinctive and unusual pattern of sebaceous adenitis with single cell apoptosis.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":"782-785"},"PeriodicalIF":1.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144776828","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
Long-Standing Bilateral Adult-Onset Orbital Xanthogranuloma With Unique Histologic Findings Uncovering the Diagnosis of Sitosterolemia. 长期的双侧成人发病的眼眶黄色肉芽肿,具有独特的组织学表现,揭示了谷固醇血症的诊断。
IF 1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-10-01 DOI: 10.1097/DAD.0000000000003142
Thilo Gambichler, Sera J Weyer-Fahlbusch, Jörg Schaller, Eva Sanchez-Martinez, Sonja Dengler, Shanice Fidorra, Thomas Mentzel, Johann Lorenzen, Anke Lücke, Laura Susok
{"title":"Long-Standing Bilateral Adult-Onset Orbital Xanthogranuloma With Unique Histologic Findings Uncovering the Diagnosis of Sitosterolemia.","authors":"Thilo Gambichler, Sera J Weyer-Fahlbusch, Jörg Schaller, Eva Sanchez-Martinez, Sonja Dengler, Shanice Fidorra, Thomas Mentzel, Johann Lorenzen, Anke Lücke, Laura Susok","doi":"10.1097/DAD.0000000000003142","DOIUrl":"10.1097/DAD.0000000000003142","url":null,"abstract":"<p><strong>Abstract: </strong>Sitosterolemia is a rare autosomal recessive lipid disorder characterized by markedly elevated plasma plant sterol levels, premature atherosclerosis, and cutaneous xanthomas. Adult-onset orbital xanthogranuloma (AOX) is an uncommon non-Langerhans cell histiocytosis marked by xanthogranulomatous infiltration of the orbital tissues. We report the case of a 49-year-old woman with bilateral periorbital tumors and tendinous xanthomas who remained undiagnosed for >2 decades. Histopathologic examination of multiple biopsies for a 15-year period revealed xanthogranulomatous infiltrates consistent with AOX, accompanied by intracytoplasmic eosinophilic bodies not previously described. Imaging revealed severe stenosis of both cardiac and cerebral vessels. Laboratory testing showed markedly elevated levels of β-sitosterol, campesterol, and stigmastanol. Genetic analysis identified a homozygous nonsense mutation in the ABCG5 gene, confirming the diagnosis of sitosterolemia. This represents only the third reported case of AOX associated with sitosterolemia. The significance of the eosinophilic bodies observed in this patient remains unclear. Our findings highlight AOX as a rare but potentially under-recognized cutaneous manifestation of sitosterolemia. Importantly, measurement of plant sterol levels and genetic testing should be considered in patients with unexplained xanthogranulomatous lesions, particularly when accompanied by vascular disease or atypical lipid profiles. Recognizing this association may lead to earlier diagnosis and targeted treatment, potentially reducing the risk of life-threatening complications associated with this treatable metabolic disorder.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145208203","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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