Multiple fibrous cortical defects/non-ossifying fibroma

Case contributed by Dr Amr Farouk

Presentation

30 years old male patient presented with multiple Cafe au Lait patches & axillary freckling.

Patient Data

Age: 30
Gender: Male

Multiple bilateral tibial & femoral sharply demarcated, asymmetrical, cortically based lesions with thin margins.They are located mainly in the metaphysis, adjacent to the physis.

Multiple bilateral intramuscular enhancing nodules are seen (neurofibromas).

Case Discussion

Multiple NOFs are associated with NF1, fibrous dysplasia, and Jaffe-Campanacci syndrome. 

The association of multiple non-ossifying fibromas with cafe au lait skin patches has been named Jaffee-Campanacci syndrome (JCS).

It remains intriguing whether the Jaffe-Campanacci syndrome is a particular form of NF1 or a separate entity. In the 2013 “WHO Classification of tumours of soft tissue and bone”, it is defined as the association of NOFs and NF1.

Other authors suggested the syndrome might be a manifestation of the variability of NF1.

Criteria for Jaffe-Campanacci syndrome, as proposed by Mirra et al., including axillary freckles, café-au-lait spots and multiple NOFs.

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Case information

rID: 41208
Case created: 20th Nov 2015
Last edited: 28th Nov 2015
Inclusion in quiz mode: Included

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