American Journal of Dermatopathology最新文献

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Granulation Tissue-Like Spindle Cell Squamous Cell Carcinoma of the Skin Arising in a Burn Scar. 在烧伤疤痕中产生的肉芽组织样梭形细胞皮肤鳞状细胞癌。
IF 0.8 4区 医学
American Journal of Dermatopathology Pub Date : 2026-11-01 Epub Date: 2026-06-02 DOI: 10.1097/DAD.0000000000003333
Tu Thanh Nguyen, Shinya Otsuki, Hiroaki Ito, Masakazu Fujimoto, Hiroyuki Irie, Masahiro Hirata, Hironori Haga
{"title":"Granulation Tissue-Like Spindle Cell Squamous Cell Carcinoma of the Skin Arising in a Burn Scar.","authors":"Tu Thanh Nguyen, Shinya Otsuki, Hiroaki Ito, Masakazu Fujimoto, Hiroyuki Irie, Masahiro Hirata, Hironori Haga","doi":"10.1097/DAD.0000000000003333","DOIUrl":"10.1097/DAD.0000000000003333","url":null,"abstract":"<p><strong>Abstract: </strong>Cutaneous spindle cell squamous cell carcinoma (SCSCC) is known to mimic malignant spindle cell neoplasms. In the head and neck region, a deceptively bland, granulation tissue-like pattern has also been reported that may simulate benign reactive processes; however, it has rarely been described in cutaneous SCSCC. Here, we report a case of cutaneous SCSCC with a granulation tissue-like spindle cell component arising from an upper arm burn scar in a 66-year-old woman. Histological examination of the punch biopsy specimen initially revealed a deceptively bland, yet atypical spindle cell proliferation with focal slit-like pseudovascular spaces, suggesting granulation tissue. Given the presence of a clinically ulcerated mass measuring 3.5 × 2.7 cm arising from a chronic scar, immunohistochemical analysis was performed, which supported the diagnosis of SCSCC, showing diffuse positivity for CK5 and p40 with p53 overexpression. Examination of the surgical specimen revealed morphological heterogeneity, with areas of conventional SCC and spindle cell components, including deceptively bland, granulation tissue-like areas and areas exhibiting myxoid change and overt cytologic atypia. This case highlights that cutaneous SCSCC may exhibit deceptively bland cytology closely mimicking granulation tissue, representing a potential diagnostic pitfall, particularly in limited biopsy specimens.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":"898-901"},"PeriodicalIF":0.8,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148334208","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 Mixed Tumor of the Skin With TRPS1::PLAG1 Fusion. 皮肤恶性混合肿瘤合并TRPS1::PLAG1融合。
IF 0.8 4区 医学
American Journal of Dermatopathology Pub Date : 2026-11-01 Epub Date: 2026-06-08 DOI: 10.1097/DAD.0000000000003343
Shinichi Nakazato, Emi Takakuwa, Tomohiro Minagawa, Takashi Anan, Kaori Koga, Keisuke Goto
{"title":"Malignant Mixed Tumor of the Skin With TRPS1::PLAG1 Fusion.","authors":"Shinichi Nakazato, Emi Takakuwa, Tomohiro Minagawa, Takashi Anan, Kaori Koga, Keisuke Goto","doi":"10.1097/DAD.0000000000003343","DOIUrl":"10.1097/DAD.0000000000003343","url":null,"abstract":"<p><strong>Abstract: </strong>Malignant mixed tumor of the skin (MMTS) is an extremely rare malignant cutaneous adnexal neoplasm that arises through malignant transformation of a benign mixed tumor of the skin and exhibits a variety of histopathological features. Benign mixed tumor of the skin is classified morphologically into apocrine and eccrine types; the former being characterized molecularly by PLAG1 rearrangement. To date, approximately 50 cases of MMTS have been reported, but most published case reports have not been supported by molecular pathological analysis. In this study we report the first documented case of MMTS in which a TRPS1::PLAG1 fusion gene was identified. Further accumulation of MMTS cases with detailed molecular analysis, focusing particularly on PLAG1 rearrangement and overexpression, is warranted.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":"883-886"},"PeriodicalIF":0.8,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148334195","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
Nail Langerhans Cell Histiocytosis: A Rare Case Series of Two Patients With Single-System and Multisystem Disease Presenting With Nail Lesions. 指甲朗格汉斯细胞组织细胞增多症:罕见的两例患者单系统和多系统疾病表现为指甲病变。
IF 0.8 4区 医学
American Journal of Dermatopathology Pub Date : 2026-11-01 Epub Date: 2026-06-17 DOI: 10.1097/DAD.0000000000003339
Antonina Kalmykova, Kim Harnisch, Oleksandr Chepets, Anna Stovbyr, Iryna Artymko, Phillip McKee
{"title":"Nail Langerhans Cell Histiocytosis: A Rare Case Series of Two Patients With Single-System and Multisystem Disease Presenting With Nail Lesions.","authors":"Antonina Kalmykova, Kim Harnisch, Oleksandr Chepets, Anna Stovbyr, Iryna Artymko, Phillip McKee","doi":"10.1097/DAD.0000000000003339","DOIUrl":"10.1097/DAD.0000000000003339","url":null,"abstract":"<p><strong>Abstract: </strong>Langerhans cell histiocytosis (LCH) is a rare myeloid neoplastic disorder driven by somatic MAPK pathway mutations, most commonly BRAFV600E, characterized by clonal proliferation of CD1a+/CD207+ dendritic cells forming granulomatous lesions in various tissues. Nail involvement is an uncommon but clinically significant manifestation, often associated with multisystem disease and a potentially poorer prognosis. We report 2 pediatric cases of LCH presenting with nail changes as the initial clinical feature. Case 1, a 2-year-old boy, was presented with longitudinal grooving, onycholysis, subungual hyperkeratosis, and purpuric striae of nearly all fingernails. Staging investigations revealed only mild lymphadenopathy, and BRAF mutation testing was negative. He was treated with methylprednisolone and vinblastine, achieving metabolic inactivity at 9 months. Case 2, a 19-month-old boy, was presented with diffuse fingernail and toenail dystrophy followed by cutaneous papules and was found to have multisystem disease involving bone and lungs. Nail bed, skin, and bone biopsies confirmed LCH. Systemic chemotherapy with vinblastine and prednisone led to marked improvement in nail, skin, pulmonary, and osseous lesions. These cases illustrate that nail changes may be the earliest manifestation of LCH and should prompt thorough systemic evaluation. Early recognition of nail involvement can facilitate timely diagnosis and risk-adapted treatment, potentially improving outcomes in affected patients.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":"e115-e118"},"PeriodicalIF":0.8,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148259882","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
Low-Grade and Intermediate-Grade Apocrine Intraductal Carcinoma Arising in a Nevus Sebaceous of Jadassohn. 发生于Jadassohn皮脂腺痣的低度和中度大汗腺导管内癌。
IF 0.8 4区 医学
American Journal of Dermatopathology Pub Date : 2026-11-01 Epub Date: 2026-07-31 DOI: 10.1097/DAD.0000000000003401
Diego Hernández De Jesús, María Jesús Barros Eyzaguirre, Catalina Axpe Gil, Daniel Molina Lamela, Jialing Wu Chen, Ignacio Pinilla Pagnón, Monserrat Chao Cercente, María Del Rosario Rodríguez Ramos, Nicolás Silvestre Torner, Gonzalo García de Casasola
{"title":"Low-Grade and Intermediate-Grade Apocrine Intraductal Carcinoma Arising in a Nevus Sebaceous of Jadassohn.","authors":"Diego Hernández De Jesús, María Jesús Barros Eyzaguirre, Catalina Axpe Gil, Daniel Molina Lamela, Jialing Wu Chen, Ignacio Pinilla Pagnón, Monserrat Chao Cercente, María Del Rosario Rodríguez Ramos, Nicolás Silvestre Torner, Gonzalo García de Casasola","doi":"10.1097/DAD.0000000000003401","DOIUrl":"10.1097/DAD.0000000000003401","url":null,"abstract":"<p><strong>Abstract: </strong>Nevus sebaceous (NS) is a congenital hamartoma that may give rise to a wide spectrum of benign and malignant adnexal neoplasms, although malignant transformation is uncommon. We report a case of low- and intermediate-grade apocrine intraductal carcinoma arising in a NS of Jadassohn in a 93-year-old woman. Histopathologic examination demonstrated an intraductal apocrine neoplasm with solid and cribriform architecture, focal comedonecrosis, and an intact surrounding myoepithelial cell layer highlighted by p63 and CK5/6 immunostaining. The neoplastic cells expressed CK7, epithelial membrane antigen (EMA), and androgen receptor, whereas estrogen receptor, progesterone receptor, and HER2 were negative. The lesion was associated with basal cell carcinoma, trichoblastoma, and apocrine hidrocystoma within the same NS. The morphologic and immunophenotypic findings closely parallel those of mammary apocrine ductal carcinoma in situ, supporting the concept that analogous neoplastic transformation may occur in cutaneous apocrine ducts. This case expands the spectrum of malignant neoplasms arising in NS and contributes to the limited literature on this exceptionally rare entity. Gemini ha dicho.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":"887-890"},"PeriodicalIF":0.8,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148649841","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
Oral Tuberculosis Presenting in a Patient With Asymptomatic Miliary Pulmonary Tuberculosis. 1例无症状军旅性肺结核患者出现口腔结核。
IF 0.8 4区 医学
American Journal of Dermatopathology Pub Date : 2026-11-01 Epub Date: 2026-08-03 DOI: 10.1097/DAD.0000000000003397
Heitor Albergoni Silveira, Mariana Paravani Palaçon, Gabriel Enrique Tantalean Laor, Helena Fujisaka Robles Viccari, Andreia Bufalino, Jorge Esquiche León
{"title":"Oral Tuberculosis Presenting in a Patient With Asymptomatic Miliary Pulmonary Tuberculosis.","authors":"Heitor Albergoni Silveira, Mariana Paravani Palaçon, Gabriel Enrique Tantalean Laor, Helena Fujisaka Robles Viccari, Andreia Bufalino, Jorge Esquiche León","doi":"10.1097/DAD.0000000000003397","DOIUrl":"10.1097/DAD.0000000000003397","url":null,"abstract":"","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":"920-921"},"PeriodicalIF":0.8,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148671310","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 Rosai-Dorfman Disease Presenting as an Infiltrative Dorsal Nasal Mass With Deep Skeletal Muscle Involvement. 原发性皮肤Rosai-Dorfman病表现为浸润性鼻背肿块伴深部骨骼肌受累。
IF 0.8 4区 医学
American Journal of Dermatopathology Pub Date : 2026-11-01 Epub Date: 2026-06-24 DOI: 10.1097/DAD.0000000000003358
Luke Hamilton, Julien C Bourgeois, Katherine Johnson, Antonio Jimenez, Janice M Wilson, Brandon P Goodwin
{"title":"Primary Cutaneous Rosai-Dorfman Disease Presenting as an Infiltrative Dorsal Nasal Mass With Deep Skeletal Muscle Involvement.","authors":"Luke Hamilton, Julien C Bourgeois, Katherine Johnson, Antonio Jimenez, Janice M Wilson, Brandon P Goodwin","doi":"10.1097/DAD.0000000000003358","DOIUrl":"10.1097/DAD.0000000000003358","url":null,"abstract":"<p><strong>Abstract: </strong>Rosai-Dorfman disease (RDD) is a rare non-Langerhans cell histiocytosis that most commonly presents with nodal disease but may involve extranodal sites, including the skin. Purely cutaneous Rosai-Dorfman disease (CRDD) is uncommon and demonstrates a wide range of clinical and histopathologic features, frequently resulting in diagnostic delay. We report a case of a 64-year-old woman with an 18-month history of a progressively enlarging, pruritic nasal mass encompassing the entire nasal dorsum and bilateral nasal sidewalls refractory to multiple therapies and repeatedly misdiagnosed as granulomatous rosacea. Deep biopsy revealed a dense lymphoplasmacytic infiltrate with storiform fibrosis involving the dermis, subcutis, and skeletal muscle. Scattered large histiocytes demonstrated emperipolesis and expressed S100, OCT2, and CD68, whereas CD1a was negative. Extensive ancillary studies excluded infection and hematolymphoid malignancy. This case highlights a rare and underrecognized presentation of CRDD with histopathologically confirmed skeletal muscle involvement and underscores key diagnostic pitfalls relevant to dermatologists and dermatopathologists.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":"907-911"},"PeriodicalIF":0.8,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148303515","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
Local EETs Formation in Granulomatous Arteritis in a Patient With Eosinophilic Granulomatosis With Polyangiitis. 嗜酸性肉芽肿合并多血管炎患者肉芽肿性动脉炎的局部eet形成。
IF 0.8 4区 医学
American Journal of Dermatopathology Pub Date : 2026-11-01 Epub Date: 2026-06-23 DOI: 10.1097/DAD.0000000000003356
Ryuto Mukaiyama, Maki Takada, Miyuki Yamamoto, Tatsuhiko Mori, Ko-Ron Chen, Toshiyuki Yamamoto
{"title":"Local EETs Formation in Granulomatous Arteritis in a Patient With Eosinophilic Granulomatosis With Polyangiitis.","authors":"Ryuto Mukaiyama, Maki Takada, Miyuki Yamamoto, Tatsuhiko Mori, Ko-Ron Chen, Toshiyuki Yamamoto","doi":"10.1097/DAD.0000000000003356","DOIUrl":"10.1097/DAD.0000000000003356","url":null,"abstract":"","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":"918-919"},"PeriodicalIF":0.8,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148297199","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
Follicular Induction Overlying a Cutaneous Myxoma: A Rare Case Report and Potential Diagnostic Pitfall. 皮肤黏液瘤上的卵泡诱导:一个罕见的病例报告和潜在的诊断缺陷。
IF 0.8 4区 医学
American Journal of Dermatopathology Pub Date : 2026-10-15 DOI: 10.1097/DAD.0000000000003462
Destyni Hubbard, Kaya Rowe, Nanda Nana, Obarikanemi Nwogu, Maebob Enokenwa, Steven Capen, Walter Rush
{"title":"Follicular Induction Overlying a Cutaneous Myxoma: A Rare Case Report and Potential Diagnostic Pitfall.","authors":"Destyni Hubbard, Kaya Rowe, Nanda Nana, Obarikanemi Nwogu, Maebob Enokenwa, Steven Capen, Walter Rush","doi":"10.1097/DAD.0000000000003462","DOIUrl":"https://doi.org/10.1097/DAD.0000000000003462","url":null,"abstract":"<p><strong>Abstract: </strong>Cutaneous myxomas, also known as superficial angiomyxomas, are uncommon benign hamartomatous neoplasms often presenting as solitary lesions on the trunk, head and neck, or genital region. Multiple cutaneous myxomas may occur in the setting of Carney complex or its subsets, NAME and LAMB syndromes. Histologically, cutaneous myxomas are characterized as a well-circumscribed dermal or subcutaneous proliferation of variably sized fibroblasts and stellate cells within a mucinous matrix with prominent branching capillaries. An uncommon histopathologic feature demonstrated in the present case was notable follicular induction overlying the biopsied lesion. Follicular induction is a phenomenon by which primitive hair follicles and associated sebaceous glands are produced by the epithelium because of the influence of an underlying inflammatory or neoplastic dermal process. Most commonly appreciated in other benign entities such as dermatofibromas, follicular induction can be mistaken for basal cell carcinoma because of the presence of basaloid proliferations that can resemble a neoplastic process histologically in superficially sampled lesions. This case highlights the rare occurrence of follicular induction in cutaneous myxomas, provides a review of its presence in other benign neoplasms, and underscores the importance of careful clinical and histological correlation to avoid misdiagnosis as a malignant neoplasm.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149197622","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
Immunohistochemical Analysis of INSM1, MCPyV, and PHOX2B Expression in Merkel Cell Carcinoma. 默克尔细胞癌中INSM1、MCPyV和PHOX2B表达的免疫组化分析
IF 0.8 4区 医学
American Journal of Dermatopathology Pub Date : 2026-10-15 DOI: 10.1097/DAD.0000000000003457
Beste Noyan Mod, Merve Cin, Sena Ecin Demezoglu, Cem Leblebici
{"title":"Immunohistochemical Analysis of INSM1, MCPyV, and PHOX2B Expression in Merkel Cell Carcinoma.","authors":"Beste Noyan Mod, Merve Cin, Sena Ecin Demezoglu, Cem Leblebici","doi":"10.1097/DAD.0000000000003457","DOIUrl":"https://doi.org/10.1097/DAD.0000000000003457","url":null,"abstract":"<p><strong>Background: </strong>Merkel cell carcinoma (MCC) is a rare and aggressive cutaneous neuroendocrine malignancy with distinct etiological pathways, including Merkel cell polyomavirus (MCPyV) infection and ultraviolet (UV)-induced carcinogenesis. Owing to the lack of large case series, the etiology of MCC in Turkey remains unclear. INSM1 is a highly specific neuroendocrine marker that supports the diagnosis of MCC. PHOX2B, although known to be expressed in neuroblastoma, has been only rarely investigated in MCC.</p><p><strong>Methods: </strong>We retrospectively evaluated 14 MCC cases diagnosed between 2008 and 2023 at Istanbul Training and Research Hospital. Immunohistochemical analysis was performed using antibodies against INSM1 (A-8), MCPyV (Ab3), and PHOX2B (EP312). The extent and pattern of staining were assessed and correlated with clinicopathological findings and existing literature.</p><p><strong>Results: </strong>All cases demonstrated INSM1 expression, with predominantly diffuse nuclear staining. MCPyV positivity was observed in 78.6% of cases. PHOX2B expression was detected in only one case, showing focal and weak nuclear positivity, while all other cases were negative.</p><p><strong>Conclusion: </strong>Our findings support the high diagnostic utility of INSM1 and confirm that MCPyV is present in most MCC cases in our cohort. The use of the Ab3 antibody may enhance detection of MCPyV due to its higher sensitivity. Since neuroblastoma and Merkel cell carcinoma are morphologically similar on first glance with sheets of small blue cells, PHOX2B serves as an effective discriminatory marker. It tests positive in neuroblastoma and negative in Merkel cell carcinoma, as demonstrated in our cohort of patients. These findings highlight the importance of appropriate marker selection in the diagnostic evaluation of MCC. Merkel cell carcinomas secondary to viral etiology appear to be the predominant form in Turkey.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149197647","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
Familial Darier Disease Across 3 Generations: Highlighting the Spectrum of Neuropsychiatric Comorbidities. 跨越三代的家族性痢疾:强调神经精神合并症的频谱。
IF 0.8 4区 医学
American Journal of Dermatopathology Pub Date : 2026-10-15 DOI: 10.1097/DAD.0000000000003453
Hasan E İlgenli, Selami A Temiz, İlkay Özer, Pembe Oltulu
{"title":"Familial Darier Disease Across 3 Generations: Highlighting the Spectrum of Neuropsychiatric Comorbidities.","authors":"Hasan E İlgenli, Selami A Temiz, İlkay Özer, Pembe Oltulu","doi":"10.1097/DAD.0000000000003453","DOIUrl":"https://doi.org/10.1097/DAD.0000000000003453","url":null,"abstract":"<p><strong>Abstract: </strong>Darier disease (DD) is a rare genodermatosis caused by mutations in the ATP2A2 gene, leading to impaired intracellular calcium signaling, acantholysis, and dyskeratosis. Although traditionally viewed primarily as a cutaneous disorder, DD shows significant intragenerational and intergenerational phenotypic variability and systemic associations. We present an extraordinary case series of 3 patients from a single Turkish family representing 3 successive generations of DD, each demonstrating distinct clinical manifestations alongside varying neuropsychiatric comorbidities. Specifically, the first-generation patient presented with Alzheimer disease, the second with obsessive-compulsive disorder, and the third with cognitive impairment. The diagnosis was supported by classical clinical and histopathological findings. To our knowledge, this is the first report specifically characterizing the spectrum of neuropsychiatric manifestations across 3 consecutive generations within a single family affected by DD. This familial presentation highlights the disease's complex pleiotropic effects and underscores the need for a multidisciplinary approach to evaluating these patients.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149197656","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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