Background: Jaffe-Campanacci syndrome is characterized by multiple non-ossifying fibromas, café-au-lait macules and giant cell granulomas of the jaw. Even if the association between all these peculiar features and neurofibromatosis type 1 have been described, it has not yet been clarified whether Jaffe-Campanacci syndrome represents a distinct entity or it can be regarded as a neurofibromatosis type 1 subtype. Case presentation: The patient here described is a young boy, who fulfilled the clinical diagnostic criteria for both syndromes. He had a complex clinical history with café-au-lait macules, axillary and inguinal freckling, multiple non-ossifying fibromas, giant-cell granuloma of the jaw, neurofibromas, plexiform fibroma, ocular Lisch nodules, optic chiasmatic- hypothalamic glioma, pseudarthrosis, scoliosis, short stature, vascular anomalies, seizures. Molecular analysis of the NF1 gene both on blood cells and non-ossifying fibroma's biopsy tissue allowed the detection of a novel variant within the coding region, NM-000267.3:c.2789-2791delATC(p.Tyr930-Pro931delinsSer), with loss of heterozygosity (second hit mutation) in the non-ossifying fibroma. Conclusion: This result indicates that every patient with clinical features of Jaffe-Campanacci syndrome should be further evaluated to detect features related to neurofibromatosis type 1 and genetically investigated for mutations in the NF1 gene, since this could lead to a definite diagnosis, but also could clarify and quantify the real genotype-phenotype overlap between neurofibromatosis type 1 and Jaffe-Campanacci syndrome.

Jaffe-Campanacci syndrome or neurofibromatosis type 1: A case report of phenotypic overlap with detection of NF1 gene mutation in non-ossifying fibroma

Buganza R.;Runfola F.;Mussinatto I.;De Sanctis L.
2020-01-01

Abstract

Background: Jaffe-Campanacci syndrome is characterized by multiple non-ossifying fibromas, café-au-lait macules and giant cell granulomas of the jaw. Even if the association between all these peculiar features and neurofibromatosis type 1 have been described, it has not yet been clarified whether Jaffe-Campanacci syndrome represents a distinct entity or it can be regarded as a neurofibromatosis type 1 subtype. Case presentation: The patient here described is a young boy, who fulfilled the clinical diagnostic criteria for both syndromes. He had a complex clinical history with café-au-lait macules, axillary and inguinal freckling, multiple non-ossifying fibromas, giant-cell granuloma of the jaw, neurofibromas, plexiform fibroma, ocular Lisch nodules, optic chiasmatic- hypothalamic glioma, pseudarthrosis, scoliosis, short stature, vascular anomalies, seizures. Molecular analysis of the NF1 gene both on blood cells and non-ossifying fibroma's biopsy tissue allowed the detection of a novel variant within the coding region, NM-000267.3:c.2789-2791delATC(p.Tyr930-Pro931delinsSer), with loss of heterozygosity (second hit mutation) in the non-ossifying fibroma. Conclusion: This result indicates that every patient with clinical features of Jaffe-Campanacci syndrome should be further evaluated to detect features related to neurofibromatosis type 1 and genetically investigated for mutations in the NF1 gene, since this could lead to a definite diagnosis, but also could clarify and quantify the real genotype-phenotype overlap between neurofibromatosis type 1 and Jaffe-Campanacci syndrome.
2020
46
1
58
63
café-au-lait macules; Giant cell granulomas of the jaw; Jaffe-Campanacci syndrome; Neurofibromatosis type 1; Non-ossifying fibromas; Bone Neoplasms; Cafe-au-Lait Spots; Child; Diagnosis, Differential; Fibroma; Granuloma, Giant Cell; Humans; Male; Neurofibromatosis 1; Syndrome; Genes, Neurofibromatosis 1; Mutation
Vannelli S.; Buganza R.; Runfola F.; Mussinatto I.; Andreacchio A.; De Sanctis L.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/1798041
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