Jaffe-Campanacci syndrome; a case series and review of the literature

被引:1
作者
Sabry, Ahmed O. [1 ]
Abolenain, Ahmed Salem [1 ]
Mostafa, Noureldin [1 ]
Ramadan, Abdelraouf [1 ]
Ghanem, Mohamed [1 ]
机构
[1] Cairo Univ, Fac Med, Dept Orthoped, Cairo, Egypt
关键词
Jaffe-Campanacci syndrome; Neurofibromatosis type 1; Caf & eacute; au lait macules; Non-ossifying fibroma; Case report; NON-OSSIFYING FIBROMAS; MUTATIONS;
D O I
10.1186/s12891-024-07581-0
中图分类号
R826.8 [整形外科学]; R782.2 [口腔颌面部整形外科学]; R726.2 [小儿整形外科学]; R62 [整形外科学(修复外科学)];
学科分类号
摘要
BackgroundJaffe-Campanacci syndrome is a rare syndrome, characterized by multiple non-ossifying fibromas (NOF) and cafe-au-lait patches. The name was coined in 1982 by Mirra after Jaffe who first described the case in 1958. Although it's suggested there is a relation with Neurofibromatosis type 1, there is still no consensus on whether Jaffe-Campanacci syndrome is a subtype or variant of neurofibromatosis-1(NF-1).Case presentationIn this article, we present a case series of 2 patients. The first case is a 13-year-old male with Jaffe-Campanacci syndrome who presented with a distal femur fracture. His father had positive features of both Jaffe-Campanacci syndrome and NF-1, while his sister only had features of NF-1, so we presented both.ConclusionJaffe-Campanacci has a clear relationship with type 1 neurofibromatosis, which still has to be genetically established. Due to the presence of several large non-ossifying fibromas of the long bones, it is linked to a significant risk of pathological fractures. We concur with previous authors, that an osseous screening program should be performed for all patients with newly diagnosed type 1 neurofibromatosis, to identify non-ossifying fibromas and assess the potential for pathological fracture. Moreover, siblings of patients with NF-1 should be screened for multiple NOFs that may carry a high risk of pathological fractures.
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页数:9
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