{"title":"Molecular Genetic Confirmation of Jaffe-Campanacci Syndrome: A Case Report of the Third Identified Pathogenic <i>NF1</i> Variant.","authors":"Abdulkerim Kolkiran, Firdevs Dinçsoy Bir, Bilgesu Arıkan Ergün, Alişan Daylak, Mehmet Citirik, Melike Ataseven Kulalı","doi":"10.1159/000551849","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Jaffe-Campanacci syndrome (JCS) is a rare phenotypic variant of neurofibromatosis type 1 (NF1), characterized by café-au-lait macules (CALMs), multiple non-ossifying fibromas (NOFs), and occasionally central giant cell granulomas (CGCG) of the jaw. Although fewer than 30 cases have been reported to date, molecular genetic confirmation remains limited. This report presents the third known case of a confirmed pathogenic <i>NF1</i> variant.</p><p><strong>Case presentation: </strong>A 13-year-old boy with a history of multiple CALMs, axillary and inguinal freckling, Lisch nodules, and multiple NOFs in the lower extremities was diagnosed with JCS. Genetic testing revealed a pathogenic splice-site variant in <i>NF1</i>, confirming the molecular diagnosis. In addition, Sanger sequencing of DNA extracted from the affected cystic lesion tissue obtained during surgery identified the same variant, further supporting the diagnosis. Radiological findings, including lytic bone lesions in the lower extremities and brain MRI changes consistent with NF1, further supported this diagnosis. The patient also presented with a mild intellectual disability and attention-deficit/hyperactivity disorder.</p><p><strong>Discussion: </strong>This case highlights the clinical challenges and diagnostic complexity of JCS, which is a rare subtype of NF1. The patient's molecular confirmation adds to the growing body of evidence, supporting genetic testing of rare <i>NF1</i> variants. The absence of CGCGs in this case underscores the broad phenotypic spectrum of JCS. A comprehensive evaluation, including molecular testing, is critical for accurate diagnosis and management.</p><p><strong>Conclusion: </strong>This case reinforces the importance of considering rare NF1 subtypes, such as JCS, in patients presenting with multiple NOFs and typical skin findings. Early genetic confirmation is invaluable for guiding diagnosis and management, emphasizing the need for a multidisciplinary approach in rare genetic syndromes.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":""},"PeriodicalIF":0.8000,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13259000/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Syndromology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1159/000551849","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Background: Jaffe-Campanacci syndrome (JCS) is a rare phenotypic variant of neurofibromatosis type 1 (NF1), characterized by café-au-lait macules (CALMs), multiple non-ossifying fibromas (NOFs), and occasionally central giant cell granulomas (CGCG) of the jaw. Although fewer than 30 cases have been reported to date, molecular genetic confirmation remains limited. This report presents the third known case of a confirmed pathogenic NF1 variant.
Case presentation: A 13-year-old boy with a history of multiple CALMs, axillary and inguinal freckling, Lisch nodules, and multiple NOFs in the lower extremities was diagnosed with JCS. Genetic testing revealed a pathogenic splice-site variant in NF1, confirming the molecular diagnosis. In addition, Sanger sequencing of DNA extracted from the affected cystic lesion tissue obtained during surgery identified the same variant, further supporting the diagnosis. Radiological findings, including lytic bone lesions in the lower extremities and brain MRI changes consistent with NF1, further supported this diagnosis. The patient also presented with a mild intellectual disability and attention-deficit/hyperactivity disorder.
Discussion: This case highlights the clinical challenges and diagnostic complexity of JCS, which is a rare subtype of NF1. The patient's molecular confirmation adds to the growing body of evidence, supporting genetic testing of rare NF1 variants. The absence of CGCGs in this case underscores the broad phenotypic spectrum of JCS. A comprehensive evaluation, including molecular testing, is critical for accurate diagnosis and management.
Conclusion: This case reinforces the importance of considering rare NF1 subtypes, such as JCS, in patients presenting with multiple NOFs and typical skin findings. Early genetic confirmation is invaluable for guiding diagnosis and management, emphasizing the need for a multidisciplinary approach in rare genetic syndromes.
期刊介绍：
''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.
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