Pub Date : 2024-11-01DOI: 10.1097/DAD.0000000000002781
Nada Shaker, George Niedt, Nuha Shaker, Nasir Saleem, Rafat Abu Shakra, Omar P Sangueza, Robert Phelps
{"title":"A Subcutaneous Spindle Cell Neoplasm Originating From the Undifferentiated Mesoderm: An Uncommon Tumor in an Unusual Site: Challenge.","authors":"Nada Shaker, George Niedt, Nuha Shaker, Nasir Saleem, Rafat Abu Shakra, Omar P Sangueza, Robert Phelps","doi":"10.1097/DAD.0000000000002781","DOIUrl":"10.1097/DAD.0000000000002781","url":null,"abstract":"","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142480051","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}
Pub Date : 2024-11-01DOI: 10.1097/DAD.0000000000002782
Nada Shaker, George Niedt, Nuha Shaker, Nasir Saleem, Rafat Abu Shakra, Omar P Sangueza, Robert Phelps
{"title":"Unveiling the Rare: Retroauricular Subcutaneous Embryonal Rhabdomyosarcoma: Answer.","authors":"Nada Shaker, George Niedt, Nuha Shaker, Nasir Saleem, Rafat Abu Shakra, Omar P Sangueza, Robert Phelps","doi":"10.1097/DAD.0000000000002782","DOIUrl":"10.1097/DAD.0000000000002782","url":null,"abstract":"","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142480057","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}
Background: Vitiligo is a skin disorder characterized by the loss of melanocytes from the epidermis. Cysteine x cysteine motif chemokine ligand 10 (CXCL10) is linked to the Th1 pattern and has been suggested as one of the most relevant chemokine axes that promote T-cell migration in different autoimmune and inflammatory processes. The aim of this study was to assess the immunohistochemical (IHC) expression of CXCL 10 in skin lesions of patients with vitiligo to explore its possible role in the pathogenesis of the disease.
Methods: In this prospective, case-control study, we examined biopsies from the lesional skin of 20 patients with vitiligo for IHC expression of CXCL 10: 10 patients presented with stable nonsegmental vitiligo (group A), 10 patients presented with active nonsegmental vitiligo (group B), and 10 apparently healthy volunteers were examined as controls (group C).
Results: Nine patients in group A had mild IHC expression of CXCL 10 (+1) and 1 patient had moderate expression (+2). In group B, 8 patients had strong expression of CXCL 10 (+3), and the remaining patients had moderate expression (+2). However, there was no expression of CXCL 10 in all skin specimens in the control group.
Conclusions: CXCL10 IHC expression was increased in vitiligo lesions indicating a possible role in the pathogenesis of disease. The expression was significantly increased in active vitiligo compared with stable vitiligo.
背景:白癜风是一种以表皮黑色素细胞脱失为特征的皮肤疾病。半胱氨酸 x 半胱氨酸基团趋化因子配体 10(CXCL10)与 Th1 模式有关,被认为是在不同自身免疫和炎症过程中促进 T 细胞迁移的最相关趋化因子轴之一。本研究旨在评估 CXCL 10 在白癜风患者皮损中的免疫组化(IHC)表达,以探讨其在疾病发病机制中可能扮演的角色:在这项前瞻性病例对照研究中,我们对20名白癜风患者的皮损活检组织进行了CXCL 10的IHC表达检测,其中包括10名稳定期非节段性白癜风患者(A组)、10名活动期非节段性白癜风患者(B组)和10名表面健康的志愿者作为对照组(C组):结果:A组中有9名患者CXCL 10轻度IHC表达(+1),1名患者中度表达(+2)。在 B 组中,8 名患者 CXCL 10 强表达(+3),其余患者中度表达(+2)。然而,对照组的所有皮肤标本中都没有 CXCL 10 的表达:结论:CXCL10 IHC 在白癜风皮损中的表达增加,表明它可能在疾病的发病机制中发挥作用。与稳定期白癜风相比,活动期白癜风的CXCL10表达明显增加。
{"title":"Immunohistochemical Expression of CXCL 10 in Vitiligo.","authors":"Asmaa Omar Abdelmonem, Amany Mohammad Abdel-Latif, Dareen Abdulaziz Mohamed, Ghada Fawzy Rezk Hassan","doi":"10.1097/DAD.0000000000002774","DOIUrl":"10.1097/DAD.0000000000002774","url":null,"abstract":"<p><strong>Background: </strong>Vitiligo is a skin disorder characterized by the loss of melanocytes from the epidermis. Cysteine x cysteine motif chemokine ligand 10 (CXCL10) is linked to the Th1 pattern and has been suggested as one of the most relevant chemokine axes that promote T-cell migration in different autoimmune and inflammatory processes. The aim of this study was to assess the immunohistochemical (IHC) expression of CXCL 10 in skin lesions of patients with vitiligo to explore its possible role in the pathogenesis of the disease.</p><p><strong>Methods: </strong>In this prospective, case-control study, we examined biopsies from the lesional skin of 20 patients with vitiligo for IHC expression of CXCL 10: 10 patients presented with stable nonsegmental vitiligo (group A), 10 patients presented with active nonsegmental vitiligo (group B), and 10 apparently healthy volunteers were examined as controls (group C).</p><p><strong>Results: </strong>Nine patients in group A had mild IHC expression of CXCL 10 (+1) and 1 patient had moderate expression (+2). In group B, 8 patients had strong expression of CXCL 10 (+3), and the remaining patients had moderate expression (+2). However, there was no expression of CXCL 10 in all skin specimens in the control group.</p><p><strong>Conclusions: </strong>CXCL10 IHC expression was increased in vitiligo lesions indicating a possible role in the pathogenesis of disease. The expression was significantly increased in active vitiligo compared with stable vitiligo.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300131","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}
Pub Date : 2024-11-01Epub Date: 2024-09-17DOI: 10.1097/DAD.0000000000002801
Burak Tekin, Sounak Gupta, Ruifeng Guo, Julia S Lehman, Carilyn N Wieland, Emma F Johnson
Abstract: There is a paucity of data regarding porokeratosis confined to the penis and scrotum. We evaluated our single-institutional experience regarding this entity. We interrogated our pathology archive for all specimens from the penis or scrotum, signed out as porokeratosis between 2000 and 2022. Clinical and histopathological features were reviewed, including the number of cornoid lamella(e) per tissue profile and squamous dysplasia. Nine patients were included in the study. The median age at the time of diagnosis was 51 years. Multiple lesions were present in 3 patients. Six patients had exclusively penile involvement, whereas 2 patients had exclusively scrotal involvement. One patient had multiple lesions consistent with porokeratosis ptychotropica, extending from the scrotum to the buttocks and perineum. Clinically, a collarette of scale was noted in 3 patients and diagnosis of porokeratosis was considered in 1 patient before biopsy. Histopathologically, 2 patients exhibited multiple cornoid lamellae in the same profile and 1 patient had follicular cornoid lamellae. Focal squamous dysplasia was only present in 1 patient. Follow-up was available for 5 patients (median duration: 35 months). In 4 patients, the lesions were removed completely during the shave biopsy procedure. At the past follow-up, there were no signs of recurrence or malignant transformation to squamous cell carcinoma in any patient. Porokeratosis involving the penis and/or scrotum may be elusive to diagnosis based on clinical features alone, emphasizing the role of histopathological examination. Increased awareness of this entity may help better delineate its clinicopathological presentation and appropriate classification.
{"title":"Penile and Scrotal Porokeratosis: A Single-Institution Experience.","authors":"Burak Tekin, Sounak Gupta, Ruifeng Guo, Julia S Lehman, Carilyn N Wieland, Emma F Johnson","doi":"10.1097/DAD.0000000000002801","DOIUrl":"https://doi.org/10.1097/DAD.0000000000002801","url":null,"abstract":"<p><strong>Abstract: </strong>There is a paucity of data regarding porokeratosis confined to the penis and scrotum. We evaluated our single-institutional experience regarding this entity. We interrogated our pathology archive for all specimens from the penis or scrotum, signed out as porokeratosis between 2000 and 2022. Clinical and histopathological features were reviewed, including the number of cornoid lamella(e) per tissue profile and squamous dysplasia. Nine patients were included in the study. The median age at the time of diagnosis was 51 years. Multiple lesions were present in 3 patients. Six patients had exclusively penile involvement, whereas 2 patients had exclusively scrotal involvement. One patient had multiple lesions consistent with porokeratosis ptychotropica, extending from the scrotum to the buttocks and perineum. Clinically, a collarette of scale was noted in 3 patients and diagnosis of porokeratosis was considered in 1 patient before biopsy. Histopathologically, 2 patients exhibited multiple cornoid lamellae in the same profile and 1 patient had follicular cornoid lamellae. Focal squamous dysplasia was only present in 1 patient. Follow-up was available for 5 patients (median duration: 35 months). In 4 patients, the lesions were removed completely during the shave biopsy procedure. At the past follow-up, there were no signs of recurrence or malignant transformation to squamous cell carcinoma in any patient. Porokeratosis involving the penis and/or scrotum may be elusive to diagnosis based on clinical features alone, emphasizing the role of histopathological examination. Increased awareness of this entity may help better delineate its clinicopathological presentation and appropriate classification.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142480056","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}
Pub Date : 2024-11-01Epub Date: 2024-08-14DOI: 10.1097/DAD.0000000000002803
Alberto Soto-Moreno, Daniel Muñoz-Barba, Daniel Martín-Torregrosa, Francisco Manuel Ramos-Pleguezuelos, Ángel Santos-Briz
Abstract: Cutaneous larva migrans (CLM) is an ectoparasitic infestation predominantly caused by nematodes, specifically Ancylostoma braziliense and Ancylostoma caninum , found in tropical and subtropical regions. Although follicular involvement by the parasite is a rare manifestation, with approximately 20 cases reported in the English literature, its pathogenesis remains underexplored. The present study reports 2 cases of CLM presenting with follicular involvement in patients with pruritic lesions following travel to subtropical areas. The first of them is a 32-year-old woman who developed an abdominal skin lesion subsequent to a trip to Thailand and the second is a 28-year-old woman who exhibited a knee lesion after a volunteer mission in Senegal. Histologic examination revealed characteristic features of CLM, such as nematode larvae traversing the hair follicle. The hookworm larvae were observed creating tunnels within the external root sheath. In addition, they were interfacing with the vitreous layer, sparing the perifollicular connective tissue sheath and the Henle layer, and approaching the vicinity of the hair bulb. The application of skin ultrasound to guide the biopsy facilitated the visualization and identification of the parasite within the follicle in the latter case. This study not only underscores follicular involvement in CLM but also provides insights into its anatomopathological presentation and spread through the hair follicle.
{"title":"Hookworm Folliculitis: Report of Two Cases of Cutaneous Larva Migrans With Histologically Identified Follicular Involvement.","authors":"Alberto Soto-Moreno, Daniel Muñoz-Barba, Daniel Martín-Torregrosa, Francisco Manuel Ramos-Pleguezuelos, Ángel Santos-Briz","doi":"10.1097/DAD.0000000000002803","DOIUrl":"10.1097/DAD.0000000000002803","url":null,"abstract":"<p><strong>Abstract: </strong>Cutaneous larva migrans (CLM) is an ectoparasitic infestation predominantly caused by nematodes, specifically Ancylostoma braziliense and Ancylostoma caninum , found in tropical and subtropical regions. Although follicular involvement by the parasite is a rare manifestation, with approximately 20 cases reported in the English literature, its pathogenesis remains underexplored. The present study reports 2 cases of CLM presenting with follicular involvement in patients with pruritic lesions following travel to subtropical areas. The first of them is a 32-year-old woman who developed an abdominal skin lesion subsequent to a trip to Thailand and the second is a 28-year-old woman who exhibited a knee lesion after a volunteer mission in Senegal. Histologic examination revealed characteristic features of CLM, such as nematode larvae traversing the hair follicle. The hookworm larvae were observed creating tunnels within the external root sheath. In addition, they were interfacing with the vitreous layer, sparing the perifollicular connective tissue sheath and the Henle layer, and approaching the vicinity of the hair bulb. The application of skin ultrasound to guide the biopsy facilitated the visualization and identification of the parasite within the follicle in the latter case. This study not only underscores follicular involvement in CLM but also provides insights into its anatomopathological presentation and spread through the hair follicle.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141983845","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}
Pub Date : 2024-11-01Epub Date: 2024-08-14DOI: 10.1097/DAD.0000000000002823
Kathryn K Xu, Sydney L Proffer, Rochelle R Torgerson, Margot S Peters
Abstract: Anetoderma is an uncommonly reported dermatosis clinically characterized by discrete skin lesions resulting from elastic fiber loss within the dermis. Although primary anetoderma has been considered idiopathic, a range of associated disorders, particularly prothrombotic abnormalities, have been reported. We present a 79-year-old woman with a heterozygous Factor V Leiden mutation who developed anetoderma shortly after COVID-19 infection complicated by a thromboembolic event. Our patient adds to the literature on the occurrence of anetoderma in the setting of infection and/or a prothrombotic disorder.
摘要:手足口病是一种少见的皮肤病,临床表现为真皮层内弹性纤维脱落导致的离散性皮肤损伤。虽然原发性网状皮疹被认为是特发性的,但也有报道称它与一系列相关疾病,尤其是血栓异常有关。我们介绍了一位 79 岁的女性患者,她患有杂合子因子 V Leiden 突变,在感染 COVID-19 并发血栓栓塞事件后不久出现了手足口病。我们的患者为有关在感染和/或血栓前病变的情况下发生无脑症的文献增添了新的内容。
{"title":"Anetoderma in the Setting of a Hematologic Abnormality and COVID-19 Infection.","authors":"Kathryn K Xu, Sydney L Proffer, Rochelle R Torgerson, Margot S Peters","doi":"10.1097/DAD.0000000000002823","DOIUrl":"10.1097/DAD.0000000000002823","url":null,"abstract":"<p><strong>Abstract: </strong>Anetoderma is an uncommonly reported dermatosis clinically characterized by discrete skin lesions resulting from elastic fiber loss within the dermis. Although primary anetoderma has been considered idiopathic, a range of associated disorders, particularly prothrombotic abnormalities, have been reported. We present a 79-year-old woman with a heterozygous Factor V Leiden mutation who developed anetoderma shortly after COVID-19 infection complicated by a thromboembolic event. Our patient adds to the literature on the occurrence of anetoderma in the setting of infection and/or a prothrombotic disorder.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141983801","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":"Lower Lip Swelling in a Young Woman: Challenge.","authors":"Eduardo Rozas-Muñoz, Jaime Piquero-Casals, Juan-Francisco Mir-Bonafé, Juan-Andres Madariaga","doi":"10.1097/DAD.0000000000002779","DOIUrl":"10.1097/DAD.0000000000002779","url":null,"abstract":"","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142480055","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}
Pub Date : 2024-11-01Epub Date: 2024-07-12DOI: 10.1097/DAD.0000000000002797
Apoorva Mehta, Sophia Luyten, Abraham Abdulhak, Haseeb Mahmud, William Gillen, Alejandro A Gru
Abstract: Interdigitating dendritic cell sarcoma is a rare, aggressive hematological malignancy primarily originating in lymph nodes, with only 10 reported cases presenting in the skin (primary cutaneous interdigitating dendritic cell sarcoma). Past presentations showed erythematous nodules on the proximal extremities, back, or face. Morphologically, these neoplasms are similar to melanomas and other dendritic cell (DC) tumors, making their diagnosis difficult. Here, we present 1 case of primary cutaneous interdigitating dendritic cell sarcomas and another 1 of malignant indeterminate dendritic cell tumor (indeterminate DC sarcoma). The first case is an 83-year-old man who presented with recent ulceration and bleeding of an asymptomatic, slow growing lesion on his right thigh with biopsy revealing a large, well-circumscribed polypoid spindle cell tumor in the dermis with atypical cells with vesicular nuclei in a lymphoplasmacytic background and immunohistochemistry positivity for CD45, CD68, S100, and Cyclin D1. The second case is a 74-year-old man who presented with a progressively darkening and enlarging abdominal skin lesion with biopsy revealing a diffuse infiltrate of atypical poorly differentiated pleomorphic nuclear cells and immunohistochemistry positivity for S100, CD1a, CD56, CD43, cyclin D1, CD31, CD4, and BRAF V600E. Our findings contribute to expand the reported literature on primary cutaneous DC sarcomas.
{"title":"Malignant Dendritic Cell Sarcomas in the Skin: 2 Cases of Rare Sarcoma Subtypes With Literature Review.","authors":"Apoorva Mehta, Sophia Luyten, Abraham Abdulhak, Haseeb Mahmud, William Gillen, Alejandro A Gru","doi":"10.1097/DAD.0000000000002797","DOIUrl":"10.1097/DAD.0000000000002797","url":null,"abstract":"<p><strong>Abstract: </strong>Interdigitating dendritic cell sarcoma is a rare, aggressive hematological malignancy primarily originating in lymph nodes, with only 10 reported cases presenting in the skin (primary cutaneous interdigitating dendritic cell sarcoma). Past presentations showed erythematous nodules on the proximal extremities, back, or face. Morphologically, these neoplasms are similar to melanomas and other dendritic cell (DC) tumors, making their diagnosis difficult. Here, we present 1 case of primary cutaneous interdigitating dendritic cell sarcomas and another 1 of malignant indeterminate dendritic cell tumor (indeterminate DC sarcoma). The first case is an 83-year-old man who presented with recent ulceration and bleeding of an asymptomatic, slow growing lesion on his right thigh with biopsy revealing a large, well-circumscribed polypoid spindle cell tumor in the dermis with atypical cells with vesicular nuclei in a lymphoplasmacytic background and immunohistochemistry positivity for CD45, CD68, S100, and Cyclin D1. The second case is a 74-year-old man who presented with a progressively darkening and enlarging abdominal skin lesion with biopsy revealing a diffuse infiltrate of atypical poorly differentiated pleomorphic nuclear cells and immunohistochemistry positivity for S100, CD1a, CD56, CD43, cyclin D1, CD31, CD4, and BRAF V600E. Our findings contribute to expand the reported literature on primary cutaneous DC sarcomas.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141621752","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}
Abstract: Nail involvement in Langerhans cell histiocytosis is rarely reported in the literature. According to the reported cases, it is believed that the involvement of nails has a poor prognosis because of multisystem involvement. Performing a nail bed biopsy might be challenging for children. We report a child in whom nail bed biopsy served as the sole clue to the diagnosis of Langerhans cell histiocytosis in absentia of skin clue on a background of advanced multisystem involvement.
{"title":"Nail as a Window to Diagnosing Multisystem Langerhans Cell Histiocytosis: A Case Report and Review of Literature.","authors":"Arun Somasundaram, Senthil Kumar Periyasamy, Narayanan Arunachalam, Tirekha Suyamprakasam Vimala, Sree Rekha Jinkala, Gunasekaran Dhandapany, Ramassamy Sivaranjini","doi":"10.1097/DAD.0000000000002818","DOIUrl":"10.1097/DAD.0000000000002818","url":null,"abstract":"<p><strong>Abstract: </strong>Nail involvement in Langerhans cell histiocytosis is rarely reported in the literature. According to the reported cases, it is believed that the involvement of nails has a poor prognosis because of multisystem involvement. Performing a nail bed biopsy might be challenging for children. We report a child in whom nail bed biopsy served as the sole clue to the diagnosis of Langerhans cell histiocytosis in absentia of skin clue on a background of advanced multisystem involvement.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141983848","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}
Pub Date : 2024-11-01Epub Date: 2024-06-20DOI: 10.1097/DAD.0000000000002784
Robin H Wang, Adam Krouse, David B Eilers, Madhu Dahiya
Abstract: Follicular hybrid cysts are uncommon entities derived from 2 or more components of the folliculo-sebaceous-apocrine unit. The pathogenesis of follicular hybrid cysts is uncertain; however, they are proposed to derive from the multipotent nature of follicular stem cells. Myotonic dystrophy type 1 is an inherited muscular dystrophy caused by an unstable trinucleotide repeat expansion in the myotonic dystrophy protein kinase gene, notably associated with multiple pilomatricomas. We report a novel case of multiple follicular hybrid tumors presenting in association with myotonic dystrophy type 1. We suspect that multipotent follicular stem cells, under the influence of the hypermutability phenotype present in myotonic dystrophy type 1, contributed to the pathogenesis of multiple follicular hybrid tumors in our patient.
{"title":"Multiple Follicular Hybrid Tumors Presenting in Association With Myotonic Dystrophy Type 1.","authors":"Robin H Wang, Adam Krouse, David B Eilers, Madhu Dahiya","doi":"10.1097/DAD.0000000000002784","DOIUrl":"10.1097/DAD.0000000000002784","url":null,"abstract":"<p><strong>Abstract: </strong>Follicular hybrid cysts are uncommon entities derived from 2 or more components of the folliculo-sebaceous-apocrine unit. The pathogenesis of follicular hybrid cysts is uncertain; however, they are proposed to derive from the multipotent nature of follicular stem cells. Myotonic dystrophy type 1 is an inherited muscular dystrophy caused by an unstable trinucleotide repeat expansion in the myotonic dystrophy protein kinase gene, notably associated with multiple pilomatricomas. We report a novel case of multiple follicular hybrid tumors presenting in association with myotonic dystrophy type 1. We suspect that multipotent follicular stem cells, under the influence of the hypermutability phenotype present in myotonic dystrophy type 1, contributed to the pathogenesis of multiple follicular hybrid tumors in our patient.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141447540","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}