American Journal of Dermatopathology最新文献

An Atypical Rash Following Radiotherapy in a Patient With Breast Cancer: Challenge. 乳腺癌患者放疗后的非典型皮疹：挑战。

IF 1.1 4区医学

American Journal of Dermatopathology Pub Date : 2025-06-26 DOI: 10.1097/DAD.0000000000003042

Mathilde Kvamme, Mia Lie Petersen, Erlend Aass Engstrøm, Urša Maierhofer, Asok Biswas, Jan Øyvind Holm, Thomas Papathomas

引用次数: 0

Cutaneous Rhabdomyosarcoma With FUS::TFCP2 Fusion: An Emerging Entity That Expands the Differential Diagnosis of ALK-Positive Spindle Cell Neoplasm of the Skin. 皮肤横纹肌肉瘤与FUS::TFCP2融合：一个新兴的实体，扩大了皮肤alk阳性梭形细胞肿瘤的鉴别诊断。

IF 1.1 4区医学

American Journal of Dermatopathology Pub Date : 2025-06-26 DOI: 10.1097/DAD.0000000000003031

Kentaro Tsuji, Masakazu Fujimoto, Yuki Togashi, Satoko Baba, Akito Dobashi, Kengo Takeuchi, Tomoki Sakiyama, Yui Hirano-Lotman, Hiroyuki Irie, Yuichiro Endo, Yasuhide Takeuchi, Hironori Haga

{"title":"Cutaneous Rhabdomyosarcoma With FUS::TFCP2 Fusion: An Emerging Entity That Expands the Differential Diagnosis of ALK-Positive Spindle Cell Neoplasm of the Skin.","authors":"Kentaro Tsuji, Masakazu Fujimoto, Yuki Togashi, Satoko Baba, Akito Dobashi, Kengo Takeuchi, Tomoki Sakiyama, Yui Hirano-Lotman, Hiroyuki Irie, Yuichiro Endo, Yasuhide Takeuchi, Hironori Haga","doi":"10.1097/DAD.0000000000003031","DOIUrl":"https://doi.org/10.1097/DAD.0000000000003031","url":null,"abstract":"Abstract: Rhabdomyosarcoma with EWSR1/FUS::TFCP2 fusion is an emerging subtype of rhabdomyosarcoma that rarely arises in skin. It is characterized by spindle and epithelioid morphology, and frequent expression of cytokeratin and anaplastic lymphoma kinase (ALK). We report a case of primary cutaneous rhabdomyosarcoma with FUS::TFCP2 fusion in a 59-year-old man who initially presented with an erythematous lesion on the chest that progressed to a mass-forming lesion 6 months before his hospital visit. On examination, an irregularly shaped 12-cm indurated erythematous plaque with a 2-cm multinodular solid mass was observed. Histologic examination revealed sparse infiltration of round cells with minimal atypia within the thickened dermis of the erythematous area, while the mass exhibited fascicular or sheet-like proliferation of atypical spindle and epithelioid cells. Diffuse expression of ALK and cytokeratin, along with partial expression of alpha smooth muscle actin and desmin, raised suspicion of ALK-rearranged mesenchymal neoplasms, including inflammatory myofibroblastic tumor. However, fluorescence in situ hybridization (FISH) failed to detect ALK rearrangements. FUS::TFCP2 fusion was identified by RNA sequencing and confirmed by FISH. Additional immunohistochemistry for myogenin and MyoD1 demonstrated myogenic differentiation, leading to the final diagnosis. The patient underwent chemotherapy and surgical resection, followed by radiotherapy, and remains disease free for 8 months postoperatively. This case highlights the diagnostic challenges posed by aberrant ALK expression and the indolent appearance of early stage lesions. Awareness of this rare entity combined with molecular testing is crucial for accurate diagnosis and appropriate management.","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144499018","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

Hypertrichotic Verrucous Pigmented Plaque Over Extremities-A Clue Toward Early Verrucous Venous Malformation. 四肢多毛疣状色素斑块-早期疣状静脉畸形的线索。

IF 1.1 4区医学

American Journal of Dermatopathology Pub Date : 2025-06-26 DOI: 10.1097/DAD.0000000000002998

Shreya K Gowda, Nikhil Mehta, Sudheer Arava

{"title":"Hypertrichotic Verrucous Pigmented Plaque Over Extremities-A Clue Toward Early Verrucous Venous Malformation.","authors":"Shreya K Gowda, Nikhil Mehta, Sudheer Arava","doi":"10.1097/DAD.0000000000002998","DOIUrl":"https://doi.org/10.1097/DAD.0000000000002998","url":null,"abstract":"Abstract: Verrucous venous malformation (VVM), also known as verrucous hemangioma, is a congenital vascular anomaly characterized by malformed dermal venule-like channels and hyperkeratotic skin. This study presents 5 cases of VVM that manifested as hyperpigmented, slightly verrucous plaques with hypertrichosis, where the diagnosis was not initially suspected. The average age of the patients was 9 years, with lesions predominantly located on the lower extremities. Histopathological examination confirmed VVM through findings of hyperkeratosis, acanthosis, and dilated vascular channels in the dermis. The differential diagnoses included dermatofibroma, mastocytoma, and eccrine angiomatous hamartoma. Dermoscopic features revealed bluish red lagoons and blue-white veil patterns, assisting in distinguishing VVM from other vascular lesions. Notably, the presence of hypertrichosis and hyperpigmentation in these patients has not been previously documented and may serve as early indicators of VVM. The study highlights the need for awareness of these clinical features to avoid misdiagnosis because VVM can often be confused with other dermatological conditions.","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144499077","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 Vascular Lesions of the Ear and Periauricular Area: Challenge. 耳朵和耳周区域的长期血管病变：挑战。

IF 1.1 4区医学

American Journal of Dermatopathology Pub Date : 2025-06-26 DOI: 10.1097/DAD.0000000000003011

Gilberto Pires da Rosa, Catarina Pedrosa Costa, Alberto Mota, Maria J Cruz

引用次数: 0

Primary Cutaneous Melanoma With Sebocyte-like Melanocytes: Case Report and Review of the Literature. 原发性皮肤黑色素瘤伴皮脂腺样黑色素细胞：病例报告及文献回顾。

IF 1.1 4区医学

American Journal of Dermatopathology Pub Date : 2025-06-26 DOI: 10.1097/DAD.0000000000003007

Carmelo Urso

{"title":"Primary Cutaneous Melanoma With Sebocyte-like Melanocytes: Case Report and Review of the Literature.","authors":"Carmelo Urso","doi":"10.1097/DAD.0000000000003007","DOIUrl":"https://doi.org/10.1097/DAD.0000000000003007","url":null,"abstract":"Abstract: Melanocytes with clear vacuolated cytoplasm and scalloped nuclei, resembling mature sebocytes, can occur in congenital, acquired, and blue melanocytic nevi but are rare in malignant melanomas. A case of primary cutaneous melanoma with sebocyte-like cells is reported. The patient was a 75-year-old male patient with a large pigmented lesion located on his right forearm. Histopathologically, the tumor showed two distinctive types of neoplastic cells: atypical melanocytes with eosinophilic cytoplasm and scattered cells with scalloped nuclei, sometimes containing pseudoinclusions, and clear multivacuolated cytoplasm, closely mimicking sebaceous differentiation. Immunohistochemically, sebocyte-like cells were positive for SOX10, PRAME, EMA, and factor XIIIa. A literature review identified six additional cases, three metastatic and three primary melanomas with sebocytes-like cells. Histopathologically, two variants were recognized. In addition to conventional melanoma cells, most of lesions (three metastatic and two primary tumors) contained sebocyte-like melanocytes only; two primary tumors showed sebocyte-like cells mixed to other clear cells, such as intermediate and/or balloon melanocytes.","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144499080","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

Primary Cutaneous NUT Adnexal Carcinoma With BRD4::NUTM1 Fusion: A 19-Year Follow-Up. 原发性皮肤NUT附件癌合并BRD4::NUTM1融合：19年随访。

IF 1.1 4区医学

American Journal of Dermatopathology Pub Date : 2025-06-26 DOI: 10.1097/DAD.0000000000003034

Elsayed Ibrahim, Richard K Yang, Maria A Gubbiotti, Victor G Prieto, Woo Cheal Cho

引用次数: 0

Molluscum-Like Lesions in an Immunocompromised Patient: Challenge. 免疫功能低下患者的软体样病变：挑战。

IF 1.1 4区医学

American Journal of Dermatopathology Pub Date : 2025-06-26 DOI: 10.1097/DAD.0000000000003037

Songhee Han, Sabrina Newman, Shyam S Raghavan

引用次数: 0

Vancomycin-Induced Linear IgA Bullous Dermatosis Mimicking Stevens-Johnson Syndrome Associated With Anticancer Therapy. 万古霉素诱导的线性IgA大疱性皮肤病模拟史蒂文斯-约翰逊综合征与抗癌治疗相关

IF 1.1 4区医学

American Journal of Dermatopathology Pub Date : 2025-06-26 DOI: 10.1097/DAD.0000000000003023

Maedot A Haymete, Grace L Casado, Marissa T Rizzo, Karla C Guerra, Zachary E Holcomb, Douglas J Grider

{"title":"Vancomycin-Induced Linear IgA Bullous Dermatosis Mimicking Stevens-Johnson Syndrome Associated With Anticancer Therapy.","authors":"Maedot A Haymete, Grace L Casado, Marissa T Rizzo, Karla C Guerra, Zachary E Holcomb, Douglas J Grider","doi":"10.1097/DAD.0000000000003023","DOIUrl":"https://doi.org/10.1097/DAD.0000000000003023","url":null,"abstract":"Abstract: Linear IgA bullous dermatosis (LABD), also known as linear IgA disease, is a subepidermal blistering disorder presenting with linear deposits of IgA along the basement membrane zone. Although LABD is commonly idiopathic, it can also rarely be triggered by certain drugs, including vancomycin. Herein, we document the rare case of a 41-year-old woman with a history of invasive ductal breast carcinoma, receiving an anticancer regimen of pembrolizumab, cyclophosphamide, and doxorubicin, who developed erythema, tense bullae, and extensive sloughing of skin after vancomycin therapy. Initially, the patient was suspected to have drug-induced Stevens-Johnson syndrome/toxic epidermal necrosis; however, biopsies of the right thigh revealed subepidermal bullous dermatosis with neutrophils and necrotic keratinocytes. Direct immunofluorescence revealed 3+/3+ anti-IgA and 1+/3+ anti-C3 deposits that were linear at the dermal-epidermal junction. The clinical and histopathologic findings confirmed the diagnosis of vancomycin-induced LABD. This report examines the complicated relationship between immunobullous disease, neoplasms, and oncologic treatment. Presented is a rare case of vancomycin-induced LABD in a patient receiving concurrent chemotherapy and immunotherapy. Clinician awareness of the increased susceptibility of vancomycin-induced LABD in this population subset can improve clinical outcomes and decrease morbidity/mortality.","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144499086","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

Progressive Painful Growth on the Right Middle Finger: A Diagnostic Challenge. 进行性疼痛生长在右手中指：诊断的挑战。

IF 1.1 4区医学

American Journal of Dermatopathology Pub Date : 2025-06-26 DOI: 10.1097/DAD.0000000000003027

Kiera Murphy, Matthew F Helm, Thomas N Helm

引用次数: 0

Role of Histopathology of Skin Lesions in Diagnosing MAP2K1-Positive Cardiofaciocutaneous Syndrome. 皮肤病变组织病理学在诊断map2k1阳性心皮肤综合征中的作用。

IF 1.1 4区医学

American Journal of Dermatopathology Pub Date : 2025-06-26 DOI: 10.1097/DAD.0000000000003015

Rallapalli Rajyalakshmi, Chavali Venkata Lakshmi, Valasapalli Rajani

{"title":"Role of Histopathology of Skin Lesions in Diagnosing MAP2K1-Positive Cardiofaciocutaneous Syndrome.","authors":"Rallapalli Rajyalakshmi, Chavali Venkata Lakshmi, Valasapalli Rajani","doi":"10.1097/DAD.0000000000003015","DOIUrl":"https://doi.org/10.1097/DAD.0000000000003015","url":null,"abstract":"Abstract: Cardiofaciocutaneous syndrome (CFC) is a rare autosomal dominant RASopathy with multisystem involvement and a wide spectrum of clinical findings. Cardiac, facial, and cutaneous features are characteristic of this developmental disorder. The diagnosis of this rare syndrome is challenging because it is based on a set of clinical features alone that are similar to those of other RASopathies, such as Noonan syndrome and Costello syndrome. Cutaneous manifestations are one of the diagnostic features of CFC syndrome, and most documented cases of CFC syndrome provide clinical descriptions of skin lesions with minimal information about the histology. In this study, we present the unique histopathology features of cutaneous lesions in a 7-month-old male child with typical facial features and cardiac abnormalities of CFC syndrome. These were acanthosis, hyperkeratosis, and squamous metaplasia of the eccrine glands with granuloma formation. Molecular analysis by next-generation sequencing showed MAP2K1 gene mutation within exon 3. In addition, we conducted a comprehensive study of the histopathology of skin lesions of CFC syndrome by various authors. On 7 years follow-up, the patient was found to have global developmental delay and muscle contractures, which are common with MAP2K1 gene mutations. Skin lesions in CFC syndrome are usually associated with BRAF mutations, and the present case is one of the few to describe the detailed histopathology of skin lesions in CFC syndrome with MAP2K1 gene mutation.","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144499083","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