Whee Sung Son

doi:10.12701/jyms.2025.42.63

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Pathologic femoral fracture in rare genochondromatosis type I with dual metaphyseal enchondroma lesions: Whee Sung Son; Journal of Yeungnam Medical Science 2025;42:63.
DOI: https://doi.org/10.12701/jyms.2025.42.63
Published online: October 13, 2025

Department of Orthopaedic Surgery, Yeungnam University Medical Center, Yeungnam University College of Medicine, Daegu, Korea

Corresponding author: Whee Sung Son, MD, PhD Department of Orthopaedic Surgery, Yeungnam University Medical Center, Yeungnam University College of Medicine, 170 Hyonchung-ro, Nam-gu, Daegu 42415, Korea Tel: +82-53-620-3640 • Fax: +82-53-620-3640 • E-mail: oswsson@gmail.com

• Received: September 15, 2025 • Revised: September 29, 2025 • Accepted: October 4, 2025

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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A 21-year-old man was transferred from another hospital with right thigh pain after a 3-m fall. The patient had a known diagnosis of genochondromatosis type I and had previously experienced a pathologic fracture of the ipsilateral femoral diaphysis at 8 years old, which had been managed conservatively at the referring hospital [1].

On presentation, the patient had a distal diaphyseal fracture of the right femur. Computed tomography (CT) and magnetic resonance imaging (MRI) revealed that the fracture originated at the thinned lateral cortex of the distal metaphysis caused by an enchondroma lesion (Fig. 1). The enchondroma lesion at the distal femoral metaphysis was approximately 110 mm wide and 130 mm long, expanding the metaphysis. Furthermore, the lesion resulted in cortical thinning of the entire metaphysis, sparing only the epiphyseal cortex. In addition, because the evaluation of a pathologic fracture should include the entire affected bone to exclude the presence of additional lesions [2], CT and MRI were extended to the entire femur. This extended examination uncovered another enchondroma lesion in the proximal metaphyseal region involving the femoral neck, which must be considered during surgical planning to prevent subsequent pathologic fractures (Fig. 1B, 1C).

This pathologic fracture required stable fixation across the extensively thinned cortical region caused by the distal metaphyseal enchondroma lesion. In addition, owing to bone expansion, even the longest screws may not achieve adequate purchase in the far cortex, which must be carefully considered to obtain stable fixation. Moreover, given the presence of an additional enchondroma lesion in proximal metaphysis, fixation should include this area. Excluding the proximal lesion in the construct would increase the risk of a subsequent pathologic fracture at the end of the implant, which would create a highly challenging clinical situation.

Based on these considerations, surgery was performed using the intramedullary nail plate combination (NPC) technique. In the distal metaphysis, where bone expansion prevented far cortical purchase, this limitation was compensated for by using two implants. In the proximal metaphysis, a retrograde femoral intramedullary nail alone was not feasible to achieve fixation into the femoral neck; therefore, a plate was used to allow the placement of a long screw, thereby extending fixation to the femoral neck (Fig. 2). The patient was able to ambulate with crutch assistance from postoperative day 3 and achieved bone union at 3 months postoperatively, allowing full resumption of daily activities.

Genochondromatosis type I is an extremely rare disease [3], and only two case reports have described its associated pathologic fractures [1,4]. However, as in the present case, genochondromatosis typically involves both metaphyses, and missing these lesions may lead to clinically challenging situations. Particularly, the femoral neck carries a high risk of subsequent pathologic fractures if whole-femur fixation is not performed. Van der Hulst et al. [5] reported subsequent femoral neck pathologic fractures in five of 31 patients (16.1%) who underwent intramedullary nailing without covering the femoral neck for femoral pathologic or impending fractures, thereby emphasizing the importance of stabilizing the entire bone.

This case highlights the importance of identifying dual metaphyseal involvement and demonstrates that the NPC technique can provide stable whole-femur fixation even in the presence of extensive cortical thinning and metaphyseal bone expansion in these complex pathologic fractures.

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Ethics statement

The patient provided written informed consent for the publication of this report and accompanying images.

Conflicts of interest

No potential conflict of interest relevant to this article was reported.

Funding

This work was supported by a 2023 Yeungnam University Research Grant (No. 223A580031).

Fig. 1.

Radiographs, computed tomography, and magnetic resonance imaging (MRI) findings at initial presentation. (A) Plain radiographs showing a distal diaphyseal fracture originating from a distal metaphyseal enchondroma lesion. (B) Coronal and axial computed tomography images demonstrating both proximal and distal metaphyseal enchondroma lesions, with cortical thinning caused by the lesions. The arrowheads indicate the proximal metaphyseal enchondroma lesion. (C) Coronal T1-weighted MRI revealing dual metaphyseal enchondroma lesions in both femurs. Axial T1-weighted MRI showing cortical thinning induced by the enchondroma lesion, from which the fracture originated.

Fig. 2.

Plain radiographs taken after surgery. (A) Radiographs showing the application of the intramedullary nail plate combination technique, in which a long cannulated screw is inserted into the femoral neck to stabilize both the distal diaphyseal pathologic fracture and the proximal metaphyseal enchondroma lesion. (B) Postoperative scanogram.

References

1. Lee YS, Dan J, Ryu KJ, Kim BK, Han SH, Kim HJ, et al. Case of genochondromatosis type I in an 8-year-old boy. Am J Med Genet A 2013;161A:1513–6.Article PubMed
2. Rizzo SE, Kenan S. Pathologic fractures [updated 2023 May 22]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan [cited 2025 Sep 15]. https://www.ncbi.nlm.nih.gov/books/NBK559077/.
3. Sareen A, D'souza MM, Reddy KB, Kanojia RK, Kumar A. Genochondromatosis type I: A clinicoradiological study of four family members. Am J Med Genet A 2015;167A:2758–66.Article PubMed
4. Kabra A, Jyoti NJ, Mittal S, Trikha V. An intramedullary approach to the management of pathological distal femur fracture in genochondromatosis: a case report. Cureus 2025;17:e86340. Article PubMed PMC
5. van der Hulst RR, van den Wildenberg FA, Vroemen JP, Greve JW. Intramedullary nailing of (impending) pathologic fractures. J Trauma 1994;36:211–5.Article PubMed

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Figure

Pathologic femoral fracture in rare genochondromatosis type I with dual metaphyseal enchondroma lesions

Fig. 1. Radiographs, computed tomography, and magnetic resonance imaging (MRI) findings at initial presentation. (A) Plain radiographs showing a distal diaphyseal fracture originating from a distal metaphyseal enchondroma lesion. (B) Coronal and axial computed tomography images demonstrating both proximal and distal metaphyseal enchondroma lesions, with cortical thinning caused by the lesions. The arrowheads indicate the proximal metaphyseal enchondroma lesion. (C) Coronal T1-weighted MRI revealing dual metaphyseal enchondroma lesions in both femurs. Axial T1-weighted MRI showing cortical thinning induced by the enchondroma lesion, from which the fracture originated.

Fig. 2. Plain radiographs taken after surgery. (A) Radiographs showing the application of the intramedullary nail plate combination technique, in which a long cannulated screw is inserted into the femoral neck to stabilize both the distal diaphyseal pathologic fracture and the proximal metaphyseal enchondroma lesion. (B) Postoperative scanogram.

Fig. 1.

Fig. 2.

Pathologic femoral fracture in rare genochondromatosis type I with dual metaphyseal enchondroma lesions