Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society最新文献_第7页

Isolated Hepatic Cryptococcosis in an Immunocompetent Child: A Rare Cause of Granulomatous Hepatitis with Cholestasis. 免疫功能正常儿童孤立性肝隐球菌病：肉芽肿性肝炎伴胆汁淤积的罕见病因。

IF 1.3

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2026-05-15 DOI: 10.1177/10935266261441713

Kala Gnanasekaran Kiruthiga, Kinisha Patel, Ashish Bavdekar, Pramod Kulkarni, Avinash Pradhan

{"title":"Isolated Hepatic Cryptococcosis in an Immunocompetent Child: A Rare Cause of Granulomatous Hepatitis with Cholestasis.","authors":"Kala Gnanasekaran Kiruthiga, Kinisha Patel, Ashish Bavdekar, Pramod Kulkarni, Avinash Pradhan","doi":"10.1177/10935266261441713","DOIUrl":"https://doi.org/10.1177/10935266261441713","url":null,"abstract":"Cryptococcosis is an opportunistic fungal infection acquired through inhalation of Cryptococcus neoformans and is typically encountered in immunocompromised hosts. In children, reported cases most commonly involve the central nervous system or lungs, with hepatic disease usually occurring as part of disseminated infection. Isolated hepatic cryptococcosis in an immunocompetent child is exceptionally rare and provides insight into developmental immune responses in early childhood. We report a young immunocompetent child presenting with fever, hepatomegaly, and cholestatic liver dysfunction. Liver biopsy revealed preserved lobular architecture with prominent portal-based granulomatous inflammation composed of epithelioid histiocytes, multinucleated giant cells, lymphocytes, and eosinophils. Numerous encapsulated yeast forms were identified on routine microscopy and confirmed by mucicarmine staining. Comprehensive clinical evaluation showed no evidence of central nervous system or pulmonary involvement. The well-formed granulomas with relatively contained organisms suggest intact Th1-mediated cellular immunity and effective interferon-γ-driven macrophage activation despite early age. This case highlights the capacity of the developing pediatric immune system to generate organized granulomatous responses and underscores the liver's unique immunologic microenvironment in modulating host-pathogen interactions. Recognition of this rare presentation is critical in the differential diagnosis of pediatric granulomatous hepatitis to facilitate timely antifungal therapy and favorable clinical outcomes.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266261441713"},"PeriodicalIF":1.3,"publicationDate":"2026-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147950701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Role of Adenovirus Immunohistochemistry in Acute Appendicitis in Children. 腺病毒免疫组织化学在儿童急性阑尾炎中的作用。

IF 1.3

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2026-05-14 DOI: 10.1177/10935266261450264

Guohua Liang, Dongwei Zhang, Iván A González

{"title":"The Role of Adenovirus Immunohistochemistry in Acute Appendicitis in Children.","authors":"Guohua Liang, Dongwei Zhang, Iván A González","doi":"10.1177/10935266261450264","DOIUrl":"https://doi.org/10.1177/10935266261450264","url":null,"abstract":"Background: Acute appendicitis is the most common indication for emergent surgery in children and is due to a nonspecific obstruction of the appendiceal lumen. Rare reports have linked the association of adenovirus infection presenting with intussusception with acute appendicitis due to a secondary lymphoid hyperplasia leading to obstruction.Materials and methods: The goal of this study is to evaluate the prevalence of adenovirus infection by immunohistochemistry (IHC) (clone 20/11 & 2/6, Cell Marque) in an unbiased cohort of appendectomies due to acute appendicitis in children performed during 1 calendar year.Results: 421 appendectomies with acute appendicitis (group 1) were included in the study with a median age of 10 years (range: 1-17) and with a male predominance (61%). Additionally, 19 appendectomies performed during an ileocolic intussusception without acute appendicitis (group 2) were included, presenting with a median age of 1 year (range: 3 months-21 years) and a female predominance (63.2%). All group 1 cases showed transmural and periappendiceal acute inflammation, which was absent in all group 2 cases. Adenovirus IHC was negative in all cases in group 1 but positive in 7 cases (36.8%) in group 2. All cases with a positive adenovirus IHC show viral cytopathic changes within the surface epithelium, consistent with adenovirus.Conclusion: In this unbiased cohort of pediatric patients with acute appendicitis, adenovirus infection, as detected by IHC, was absent in all cases. Outside the setting of an intussusception and if viral cytopathic changes are not seen on routine histology, adenovirus IHC is not recommended in cases of acute appendicitis.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266261450264"},"PeriodicalIF":1.3,"publicationDate":"2026-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147944723","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Epithelioid Fibrous Histiocytoma With an ETV6::NTRK3 Fusion in a Child: A Case Expanding the Spectrum of Receptor-Tyrosine Kinase Driven Epithelioid Fibrous Histiocytoma. 儿童ETV6::NTRK3融合的上皮样纤维组织细胞瘤：一例受体酪氨酸激酶驱动的上皮样纤维组织细胞瘤。

IF 1.3

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2026-05-05 DOI: 10.1177/10935266261446773

Bindu Challa, Rana Naous, Richard Kirschner, Shalini C Reshmi, Vinay Prasad

{"title":"Epithelioid Fibrous Histiocytoma With an ETV6::NTRK3 Fusion in a Child: A Case Expanding the Spectrum of Receptor-Tyrosine Kinase Driven Epithelioid Fibrous Histiocytoma.","authors":"Bindu Challa, Rana Naous, Richard Kirschner, Shalini C Reshmi, Vinay Prasad","doi":"10.1177/10935266261446773","DOIUrl":"https://doi.org/10.1177/10935266261446773","url":null,"abstract":"Epithelioid fibrous histiocytoma (EFH) is a benign cutaneous neoplasm that is now recognized to be largely driven by ALK rearrangements. Rare cases of EFH and EFH-spectrum tumors with other receptor tyrosine kinase (RTK) fusions including RET and NTRK3 have been described, demonstrating the molecular heterogeneity of this entity. Herein, we report a 9-year-old female with a 1.5 cm right lateral chest wall lesion showing classic EFH morphology. Histology demonstrated a nodular dermal tumor extending to dermo-epidermal junction above and subcutaneous tissue below. The lesion was characterized by sheets of bland epithelioid/histiocytoid cells with a vaguely whorled architecture, prominent vessels, focal myxoid stroma, and no significant atypia, mitoses, or necrosis. On immunohistochemistry, the lesional cells were highlighted by CD68 and CD163, with patchy CD99 positivity. The lesional cells were negative for AE1/AE3, CD34, SMA, Desmin, S100, SOX10, CD10, ERG, CD1a, Langerin, CD30, and CD31. INI-1 was retained. Targeted solid tumor fusion analysis showed an ETV6::NTRK3 fusion. This case expands the molecular spectrum of EFH beyond ALK rearrangements and previously described RET and NTRK3 fusions.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266261446773"},"PeriodicalIF":1.3,"publicationDate":"2026-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147849374","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Chitayat Syndrome: A Rare Case of Respiratory Distress in a Preterm Infant. 奇塔亚特综合征：早产婴儿呼吸窘迫的罕见病例。

IF 1.3

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2026-05-01 Epub Date: 2026-01-22 DOI: 10.1177/10935266251415479

Gabriela Živković, Alen Švigir, Ivan Pavić, Silvija Mašić Binder, Katarina Bojanić, Snježana Gverić

{"title":"Chitayat Syndrome: A Rare Case of Respiratory Distress in a Preterm Infant.","authors":"Gabriela Živković, Alen Švigir, Ivan Pavić, Silvija Mašić Binder, Katarina Bojanić, Snježana Gverić","doi":"10.1177/10935266251415479","DOIUrl":"10.1177/10935266251415479","url":null,"abstract":"Childhood interstitial lung diseases (chILDs) are rare respiratory conditions with significant mortality rates in neonates. They can be misdiagnosed as the symptoms overlap with other, more common neonatal diseases. Since chILD can be a manifestation of the underlying syndrome, suggestive physical findings, genetic testing, and practitioners' notion can contribute to better recognition, as in our patient with confirmed Chitayat syndrome. A male preterm infant born at 34 weeks of gestation showed signs of progressive respiratory distress from birth with lung hyperinflation and ground glass opacities on chest X-ray, requiring progressive respiratory support: initially non-invasive, then invasive ventilation and surfactant administration within the first hour of life. Physical examination revealed craniofacial disproportion, low-set ears, brachydactyly of the index fingers with ulnar deviation, hallux valgus, hypotonia, and hyporeflexia. Congenital heart defects, cystic fibrosis, and primary ciliary dyskinesia were excluded. Open lung biopsy demonstrated focally dilated alveoli and thickened septa. Sanger sequencing revealed a recurrent missense variant c.266A>G p.(Tyr89Cys) in the ERF gene. A tracheotomy was performed and despite gradual improvement with occasional respiratory support, he died at the age of 1 year and 5 months of a Pseudomonas aeruginosa respiratory infection.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"259-263"},"PeriodicalIF":1.3,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146021145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Nerve Pathology in Children with Anterior Cutaneous Nerve Entrapment Syndrome. 前皮神经卡压综合征患儿的神经病理学。

IF 1.3

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2026-05-01 Epub Date: 2026-02-21 DOI: 10.1177/10935266261420013

Ashley Stoeckel, Sanda Alexandrescu, David P Mooney

{"title":"Nerve Pathology in Children with Anterior Cutaneous Nerve Entrapment Syndrome.","authors":"Ashley Stoeckel, Sanda Alexandrescu, David P Mooney","doi":"10.1177/10935266261420013","DOIUrl":"10.1177/10935266261420013","url":null,"abstract":"Introduction: Anterior cutaneous nerve entrapment syndrome (ACNES) is an underdiagnosed, but common, cause of abdominal pain in children. It is unknown if the involved nerves are normal or are pathologic and should be divided or released and retained. We present the pathology findings of resected nerves in children with ACNES.Methods: Operative reports, pathology reports, and clinical notes of consecutive patients who underwent anterior neurectomy from December 2011 to September 2023 were reviewed.Results: One hundred and three pathology specimens from 78 patients were evaluated. Twenty-nine of the 103 specimens were from re-operative cases. Of the 103 pathology specimens, 71 (69%) had pathologic findings in the form of: myxomatous change (49, 69%), myelin vacuolar degeneration (22, 31%), perineural fibrosis (15, 21%), traumatic neuroma-like changes (2, 3%), and possible axonal injury (1, 1%). Four specimens (4%) did not have an identifiable nerve.Conclusion: The majority of nerve specimens from patients with ACNES were found to have changes consistent with chronic nerve damage distal to the location of presumed entrapment. Resection of these cutaneous nerves, rather than release and retention, seems prudent.Level of evidence: III.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"224-227"},"PeriodicalIF":1.3,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146260230","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

EWSR1 Fusion Driven Pediatric B-Acute Lymphoblastic Leukemia: Diagnosis and Review of Literature. EWSR1融合驱动的儿童b急性淋巴细胞白血病：诊断和文献综述。

IF 1.3

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2026-05-01 Epub Date: 2026-01-23 DOI: 10.1177/10935266251413970

Molly Talman, Ashwani K Yenamandra, Yassmine Akkari, Karen Tsuchiya, Scott C Borinstein, Nicolas Lopez-Hisijos, Brianna N Smith

引用次数: 0

The Phenotype and Clinical Course of Pediatric Crohn's Disease With Granulomas: A Retrospective Cohort Study. 儿童克罗恩病伴肉芽肿的表型和临床病程：一项回顾性队列研究

IF 1.3

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2026-05-01 Epub Date: 2026-02-19 DOI: 10.1177/10935266261419541

Bilge S Akkelle, Pinar Ay, Cigdem Celikel, Deniz Ertem

{"title":"The Phenotype and Clinical Course of Pediatric Crohn's Disease With Granulomas: A Retrospective Cohort Study.","authors":"Bilge S Akkelle, Pinar Ay, Cigdem Celikel, Deniz Ertem","doi":"10.1177/10935266261419541","DOIUrl":"10.1177/10935266261419541","url":null,"abstract":"Objectives: The significance of granulomas has still not been clarified in pediatric onset Crohn's disease (CD). The aim of this study was to investigate the phenotype and clinical course in CD patients with granuloma in a comprehensive cohort.Materials and methods: Histopathological findings of 317 endoscopic procedures of 81 pediatric CD patients were retrospectively analyzed. The phenotype of the patients and long-term follow-up data were compared in patients with and without granuloma.Results: At diagnosis, granuloma was detected in at least 1 biopsy in 39.5% of the patients. Patients with granuloma had significantly higher rate of ileocolonic disease, upper gastrointestinal involvement (68.7% vs 36.7%) and moderate-severe activity at diagnosis compared to patients without granuloma. In multivariate analysis, the presence of granulomas was associated with an increased risk of exacerbation (HR = 1.52; 95% CI: 0.83-2.75; P > .05). Patients with granuloma experienced earlier exacerbation and developed fistulizing perianal disease more frequently (P = .02) and significantly earlier (P = .002) than patients without granulomas.Conclusions: Our results suggest that granulomas were associated with a distinct phenotype characterized by extensive involvement. Considering the clinical course, it is thought that granulomas may be a predictor of aggressive disease course and potential modifier of treatment strategy.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"217-223"},"PeriodicalIF":1.3,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146230277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Spondylocostal Dysostosis-1 Associated With Pancreatic Heterotopia: Coincidence or True Association? 脊柱侧凸-1与胰腺异位相关：巧合还是真实关联？

IF 1.3

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2026-05-01 Epub Date: 2026-01-13 DOI: 10.1177/10935266251411748

Sihem Darouich, Samia Darouich, Ahmed Khemiri, Houda Bellamine

{"title":"Spondylocostal Dysostosis-1 Associated With Pancreatic Heterotopia: Coincidence or True Association?","authors":"Sihem Darouich, Samia Darouich, Ahmed Khemiri, Houda Bellamine","doi":"10.1177/10935266251411748","DOIUrl":"10.1177/10935266251411748","url":null,"abstract":"Spondylocostal dysostosis type 1 is caused by mutations in the DLL3 gene, which encodes a Notch1 ligand. These mutations lead to defective somitogenesis, resulting in a consistent pattern of abnormal vertebral segmentation. Disruptions in the Notch1 signaling pathways can potentially lead to extraskeletal anomalies, although specific associations with DLL3 mutations are less well-documented. We report a 23-week female fetus presenting with characteristic \"pebble beach\" sign and rib anomalies. Autopsy revealed pulmonary hypoplasia and a 4 mm fundic nodule bulging on both inner and outer gastric surfaces. Histological examination of the stomach walls revealed multifocal pancreatic heterotopia in the fundus and pylorus, invading the submucosa and/or the muscularis propria. Genetic analysis confirmed a novel homozygous likely pathogenic frameshift variant in DLL3 (NM_000435.3:c.183_184del, p.Arg61Serfs*39). This case report expands the DLL3 mutational spectrum in spondylocostal dysostosis type 1 and highlights associated pancreatic heterotopia.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"239-242"},"PeriodicalIF":1.3,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145961151","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Histiocytic Sarcoma Arising From Pediatric Rosai Dorfman Disease: Two Novel Cases and Literature Review. 儿童Rosai Dorfman病引起的组织细胞肉瘤：两例新病例并文献复习。

IF 1.3

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2026-05-01 Epub Date: 2026-01-30 DOI: 10.1177/10935266251413973

Sam Sirotnikov, Rajeswari Jayakumar, Sunita Park, Jinjun Cheng

引用次数: 0

Meconium Periorchitis.

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Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2026-05-01 Epub Date: 2026-01-19 DOI: 10.1177/10935266251412516

Anusha Kulkarni, Kiruthiga Kala Gnanasekaran, Heena Shah, Shashank Shrotriya, Priyanka Randive, Sunil Chordia

引用次数: 0