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Article

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

Italian journal of pediatrics - 11 May 2020

Vannelli Silvia, Buganza Raffaele, Runfola Federica, Mussinatto Ilaria, Andreacchio Antonio, de Sanctis Luisa

Abstract excerpt

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....

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Identifiers

PMID: 32393377
DOI: 10.1186/s13052-020-0813-9
PMCID: PMC7216375

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