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Sacroiliac Joint Involvement: An Underreported Complication of NF1
Jenny P Garzon1,2, Eva Dombi3, Jonathan Samet1
1Division of Genetics and Rare Diseases, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
American Journal of Medical Genetics. Part A
|August 29, 2025
Summary
Neurofibromatosis type 1 (NF1) can cause rare sacroiliac joint bone dysplasia. This study found a link between internal plexiform neurofibroma (PN) and this dysplasia in four individuals.
Area of Science:
- Orthopedics
- Genetics
- Radiology
Background:
- Neurofibromatosis type 1 (NF1) is a genetic disorder.
- Sacroiliac joint (SIJ) involvement in NF1 is uncommon.
- Plexiform neurofibromas (PNs) are benign tumors associated with NF1.
Observation:
- Four participants with NF1 underwent whole-body MRI (WB-MRI).
- Three participants had underlying internal PNs associated with SIJ dysplasia.
- Dysplasia was unilateral, intraarticular, and sometimes involved subcutaneous tissue.
Findings:
- PNs were linked to SIJ dysplasia in three of four cases.
- One PN showed a 20% size increase over one year.
- Most cases had no pain or fractures, but one required surgical evaluation for pain.
Implications:
- This suggests a potentially underreported association between PNs and SIJ dysplasia in NF1.
- Further research is needed to understand this developmental abnormality.
- Early identification and monitoring may be crucial for managing NF1-related bone issues.
