Molecular Genetic Confirmation of Jaffe-Campanacci Syndrome: A Case Report of the Third Identified Pathogenic

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 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 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 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.