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| ORIGINAL ARTICLE |
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| Year : 2022 | Volume
: 19
| Issue : 1 | Page : 7-16 |
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Fibrous dysplasia; Is aggressive treatment justifiable?
Dominic Puthur, K Ajith John, Tony Jose
Department of Orthopaedics, Amala Institute of Medical Sciences, Thrissur, Kerala, India
| Date of Submission | 16-Oct-2021 |
| Date of Acceptance | 24-Oct-2021 |
| Date of Web Publication | 26-Jun-2022 |
Correspondence Address:
K Ajith John
Quarters Number 12, Inside Amala Hospital Campus, Amala Institute of Medical Sciences, Amala Nagar, Thrissur - 680 555, Kerala
India
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/joasis.joasis_24_21
Purpose: Fibrous dysplasia (FD) is a bone lesion resulting from the displacement of the normal medullary bone, with abnormal fibro-osseous tissue. The aim of the study is to investigate the clinicopathological profile of FD, and the objective is to lay out treatment protocol for this condition. Materials and Methods: 25 patients with 29 lesions including 9 femora (31%), 5 tibia (17%), and 4 humerus (14%), 3 rib, 3 ulna, 3 radius, 3 fibula, and 1 pelvis included for the study. Results: The two children who presented with lesions in the trochanter and later had pathological fracture who subsequently treated by fixation with implants were fine during final follow-up, rest of cases in upper femur graft served the purpose and remained asymptomatic in the final follow-up. Humerus and tibia case treated with fibular grafting during childhood didn't served the purpose as the grafted fibula was replaced by dysplastic bone. In contrast to that fibula is used as a graft gives good result in patients nearing skeletal maturity and also in adult. Lesions that are left alone remained as such except for the increased size during adolescent growth spurt. Conclusion: conservative management (observation alone) is enough in most cases of FD. Peri trochanteric region need surgery and were highly dependent on the patient's age at time of the initial presentation. In patients who were skeletally mature, the result was satisfactory with either fibular graft. In contrast, patients who were skeletally immature, fibular graft gets involved in the disease process and do not serve its purpose.
Keywords: Fibrous dysplasia, fibular grafting, McCune–Albright syndrome, tumor-like lesion
How to cite this article:
Puthur D, John K A, Jose T. Fibrous dysplasia; Is aggressive treatment justifiable?. J Orthop Assoc South Indian States 2022;19:7-16 |
How to cite this URL:
Puthur D, John K A, Jose T. Fibrous dysplasia; Is aggressive treatment justifiable?. J Orthop Assoc South Indian States [serial online] 2022 [cited 2023 Apr 1];19:7-16. Available from: https://www.joasis.org/text.asp?2022/19/1/7/348313 |
| Introduction | |  |
Fibrous dysplasia (FD) is a developmental tumor-like condition characterized by the replacement of normal bone by an excessive proliferation of cellular fibrous connective tissue intermixed with irregular bony trabeculae.[1],[2],[3] FD is not hereditary in nature. The etiology has been linked with a mutation in the gene that occurs after fertilization in the somatic cells and is located at chromosome 20q13.2–13.3. All cells that derive from the mutated cells manifest the dysplastic features. The clinical presentation varies depending on where, in the cell mass, the mutation is located and the size of the cell mass during embryogenesis when the mutation occurred.[4]
The bony lesions may involve one bone (monostotic FD), or multiple bones (polyostotic FD), and be associated with extraskeletal manifestations such as endocrinopathies and/or café-au-lait patches in McCune–Albright syndrome (MAS).[4] The disorder often manifests itself in childhood, presenting with bone pain, deformities, or a pathological fracture. In many cases, disease may remain asymptomatic, bony lesions being incidentally identified on radiographic imaging.[1]
There were several studies about the clinical profile of FD from western countries. However, from developing countries, the studies are very few.[5] Our study was conducted in a well-known cancer center in South India. We report a clinicopathological profile of the patients with FD over a period of 20 years. The aim of the study is to investigate the clinicopathological profile of FD, and the objective is to lay out treatment protocol for this condition.
| Materials and Methods | | |
We studied patients attended the tumor clinic in the Department of Orthopaedics and Oncology in Amala Institute of Medical Sciences, Kerala, India, from 2000 to 2020. This institution was formerly known as Amala Cancer Hospital. The study design is descriptive, and the study sampling method is consecutive.
Inclusion criteria
- Patients diagnosed with FD by an orthopedic oncologist or pathologist, who consent to be a part of the study during the study period
- Patients who were initially diagnosed or treated from outside and currently under follow-up in our institution.
Exclusion criteria
- Patients with FD in craniofacial bones
- All patients who were lost during the follow-up
- Cases histologically diagnosed as osteofibrous dysplasia was also excluded from the study.
A database of patients diagnosed with FD is maintained in our department, containing patient details, tumor characteristics, treatment modality, and outcome details.
There were 41 patients with FD who had consulted the first author from January 2000 to December 2019 as per the records. We failed to contact 13 patients. Three cases were craniomaxillary FD which are excluded. Hence, finally, 25 patients with 29 lesions were selected for the study. These include one case of MAS [Figure 1]. This girl had menarche at the age of 5 years. There were lesions in humerus radius and ulna all in the same side. There was another case of polyostotic FD where the lesion was found in both upper femur and ulna on the left side [Figure 2]. Rest of the cases were monostotic. In the majority of the cases, the diagnosis is clung by radiology.[6] In almost all cases, we take computed tomography (CT) and magnetic resonance imaging (MRI). Well-defined expansile lesion with intact overlying bone and endosteal scalloping with ground-glass matrix [Figure 3] helps in the diagnosis of FD. CT-guided core biopsy was performed in doubtful cases [Figure 4],[Figure 5],[Figure 6]. Biopsy was also performed in cases where surgical procedure was undertaken. Open biopsy is not usually done.[4] | Figure 1: 5-year-old girl which is a case of McCune–Albright syndrome with multiple fibrous dysplasia lesions all over body (a) lesion on humerus (b)treated with fibular grafting (c-g) graft is replaced by dysplastic bone (i) lesion on radius and ulna
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 | Figure 2: 10-year-old boy polyostotic FD where the lesion was found in both upper femur and ulna on the left side. (a) shows pathological fracture. (b) and (c) shows Fracture was united with plaster hip Spica. (d) shows fibular grafting done later. Further fracture after 1 year (e) and (f). This was subsequently treated by plate fixation (g). He later sustained another fracture in the opposite trochanteric area (h). (i) and (j) shows fibrous dysplasia of ulna in the same patient
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 | Figure 3: CT image showing well-defined expansile lesion with intact overlying bone and endosteal scalloping with ground-glass matrix
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 | Figure 4: Fibrous dysplasia of proximal femur towards skeletal maturity (a) CT image of lesion (b) ct guided biopsy (c) fibular grafting (d) follow up x ray
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 | Figure 5: 14-year-old boy with fibrous dysplasia of pelvis (a) and (b) Xray picture of lesion (c) ct guided biopsy
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 | Figure 6: 47-year-old male, presumptive diagnosis of fibrous dysplasia of proximal femur (a) without biopsy. (b) shows fibular grafting done from outside institution. (c) shows x ray picture when patient presented with increase in pain. (d) shows guided biopsy show metastasis from liver
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There were 17 male (68%) and 8 female (32%) cases, with an average age of 26.8 ± 21.7 years (range 3–59 years) [Chart 1]. FD was diagnosed at a total of 29 different sites in these 25 cases including 9 femora (31%), 5 tibia (17%), and 4 humerus (14%), 3 rib, 3 ulna, 3 radius, 3 fibula, and 1 pelvis [Chart 2].
We undertake regular follow-up of the cases. In majority of cases, we take X-ray initially after 6 months and then after 1 year. Later, patients were instructed to come for review every year or earlier if there is any complication. We contact those who do not come for review by phone and made sure that they are fine.
Lesions in femur
In femur, lesion was around trochanter in all cases. One case [Figure 2] (10-year-old boy) was presented with pathological fracture [Figure 2]a (Earlier, the same boy had sustained fracture of ulna which has features of FD in X-ray [Figure 2]i). Fracture was united with plaster hip spica [Figure 2]b and [Figure 2]c. Later, we undertook surgery. The aim was to confirm the diagnosis and strengthen the bone with fibula [Figure 2]d. In spite of that, he had further fracture after 1 year [Figure 2]e and [Figure 2]f. This was subsequently treated by plate fixation [Figure 2]g. He later sustained another fracture in the opposite trochanteric area [Figure 2]h. X-ray showed features of FD at that site. That fracture was treated by fixation with plate and screw.
Another case presented at the age of 7 years with pain and limping [Figure 7]. X-ray was suggestive of FD [Figure 7]a. Her symptoms got relieved by rest for 3 weeks. As the symptoms recurred and lesion progressed after 6 months [Figure 7]b, we treated her with fibular grafting [Figure 7]c. Biopsy report was consistent with FD. X-ray taken during follow-up showed the lesion progressing with involvement of the grafted fibula [Figure 7]d and [Figure 7]e. After 2 years, she sustained fracture at the site of lesion following trivial trauma [Figure 7]d. We treated her with PFN [Figure 7]e. | Figure 7: 7-year-old presented with fibrous dysplasia on proximal femur (a) X-ray picture (b) lesion progressed after 6 months (c) treated with fibular grafting (d) and (e) X-ray taken during follow-up showed the lesion progressing with involvement of the grafted fibula (f) CT 3D reconstruction shows fracture at the site of lesion following trivial trauma (g) treated with nail
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Of the remaining cases in upper femur, one was a 5-year-old boy who was referred, because of incidental finding of lesion in the subtrochanteric area in 2017 [Figure 8]a. From CT and MRI, we made a diagnosis of FD [Figure 8]b. On repeat X-ray in 2019, lesion remained same [Figure 8]c. The patient was reviewed in 2021. At no stage, the boy had signs or symptoms related to the lesion. Remaining six cases presented toward or after skeletal maturity. Four of them were treated by fibular grafting introduced from lateral side [Figure 4]. No attempt was done to completely clear the dysplastic bone. Other two lesions were confined to the subtrochanteric area. They were treated by curettage and iliac crest grafting. | Figure 8: 5-year-old (a) fibrous dysplasia lesion on subtrochanteric region. (b) CT picture of lesion. (c) lesion remained same on follow up after 2 years
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Lesions in tibia
Three presented as visible swelling [Figure 9]; one with fracture [Figure 10] and one with fracture on visible swelling [Figure 11]. The case as shown in [Figure 9] underwent open biopsy in 2001 and diagnosis of FD was done and advised surgery. She consulted the senior author in 2012 because of vague pains attributable to osteoarthritis knee. Photograph and X-ray were taken at that time. We contacted her in 2014 and 2016 and she was fine. [Figure 12] shows one case who presented at the age of 4. She was initially treated by curettage and grafting. At that time, the graft was taken from the mother. Later, when it presented with recurrence at the age of 10 [Figure 12]a, it was then treated by fibula grafting. [Figure 12]b is the X-ray taken, when she was 14 years old which show incompletely reformed fibula and lesion still persisting in tibia. Those presented with fracture in our series [Figure 10]a was treated by plaster immobilization and the fracture healed [Figure 10]b. | Figure 9: Long follow up of biopsy proven case of fibrous dysplasia of tibia (a) clinical photograph (b) follow up x ray
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 | Figure 10: Fibrous dysplasia of tibia presented with pathological fracture, (a) and (b) shows x ray picture. (c) and (d) treated with plaster immobilization
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 | Figure 11: Fibrous dysplasia of tibia, presented with fracture (a) and (b)
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 | Figure 12: 4-year-old girl presented with features of fibrous dysplasia of tibia was initially treated by curettage and grafting. At that time, the graft was taken from the mother. Later, when it presented with recurrence at the age of 10 (a), it was then treated by fibula grafting. (b) is the X-ray taken, when she was 14 years old which show incompletely reformed fibula and lesion still persisting in tibia
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Lesions in humerus
One boy presented with fracture at the age of 13. He was treated conservatively [Figure 13]a. Fracture united. After 4 years, he sustained another fracture. This was treated by fibular grafting [Figure 13]b. The girl with MAS in our series had also undergone fibular grafting [Figure 1]b. Other two lesions in humerus were incidental findings. This includes 3-year-old boy who sustained infraction fracture [Figure 14]. Because of radiological abnormality, the child was referred to our institution. CT and MRI were consistent with FD. No specific treatment was given in both cases of incidental findings. Both are doing fine on follow-up. | Figure 13: 13-year-old boy presented with fibrous dysplasia on humerus, (a), (b) and (c) fracture which was treated conservatively, (d) sustained fracture on distal humerusm, (e) and (f) treated by fibular grafting and fixation
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 | Figure 14: 3-year-old boy who sustained infraction fracture, which was treated conservatively (a-d)
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Lesions in rib
All three cases in the rib presented with prominence of the rib [Figure 15], two were treated by resection of the portion. One case was left alone.
Lesions in radius
Of the three cases in radius, one presented with fracture [Figure 16]. Other 2 were an incidental finding. This includes lesion in the case of MAS [Figure 1]. The patient shown in [Figure 17] was advised extensive surgery for her lesion. We explained the benign nature of her disease. She is coming for regular follow-up. | Figure 16: Fibrous dysplasia on radius, which was incidental finding (a)and (b)
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Lesions in ulna
In ulna, 2 cases presented with bony swelling were left alone. They are followed up regularly [Figure 18]. The one presented with fracture was treated by plaster immobilization [Figure 2]i. | Figure 18: Fibrous dysplasia of ulna which was treated conservatively (a-c)
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Lesions in fibula
Two case of fibula was detected after fracture and treated by plaster immobilization [Figure 19]. Third case presented with palpable swelling. | Figure 19: Fibrous dysplasia of fibula, (a) AP view on x ray, (b) Lateral view on x ray
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Lesions in pelvis
[Figure 5]a and [Figure 5]b belongs to a 14-year-old boy who presented with pain after playing football for long time. MRI- and CT-guided biopsy [Figure 5]c was consistent with FD. Nothing specific was done. He is fine on follow-up except that he had pain on spots activity.
| Results | | |
The two children who presented with lesions in the trochanter and later had pathological fracture who subsequently treated by fixation with implants were fine during final follow-up. [Figure 2] and [Figure 7]. The girl walks with a limp. Dysplastic bone is obviously seen in the final X-ray also [Figure 7]g. Both of them are instructed to avoid strenuous activity though out their life. We have no plan to remove the implant in such cases. In contrast to that lesion in the femur after skeletal maturity graft served the purpose and remained asymptomatic in the final follow-up [Figure 4].
Same situation occurred in other sites where fibula was used as graft before skeletal maturity, fibula got dissolved [Figure 1]c,[Figure 1]d,[Figure 1]e,[Figure 1]f and [Figure 12]. Towards skeletal maturity fibula served the purpose [Figure 13]b.
Lesions that are left alone remained as such except for the increased size during adolescent growth spurt.
| Discussion | | |
In the recent WHO Classification of Bone Tumors, FD comes under “other mesenchymal tumors of bone.”[7] In the earlier publication of the World Health Organization edited by Schajowicz, these lesions were called tumor-like lesions or pseudotumor and this term is more popular and well-accepted even now.[2],[8] The fact that FD is a tumor-like lesion attracts controversy regarding its treatment. Many orthopedic surgeons treat this condition as aggressive as giant cell tumor of bone [Figure 20] and [Figure 21]. This overtreatment causes unnecessary suffering and morbidity to the patients, especially iliac bone graft harvesting causes severe pain postoperatively and inability to wear pants in addition to financial burden. | Figure 20: Fibrous dysplasia of illiac bone which was overtreated by bone grafting (a) and (b)
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 | Figure 21: Fibrous dysplasia of trochantric region overtreated by graft and plate fixation (a) and (b)
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FD requires treatment only if it creates problem or likely to produce problem.[9] This is a well-accepted dictum among faciomaxillary surgeons. They do treat cases of FD surgically. However, their surgery involves conservative shaving and contour correction.[3],[10] They hardly excise the entire abnormal tissue.
Long follow-up of cases in our study confirms that FD of the bones of the limbs and ribs can be left alone except that around trochanter, where there is propensity for repeated fracture and Shepard crook deformity. Although pathological fracture is a common complication of FD in the limbs, they can be successfully treated by plaster immobilization in most of the cases. Still, it is justifiable to do prophylactic internal fixation either with implants or fibula grafting. While doing that, one need not remove the abnormal tissue.[11],[12],[13]
Swelling and deformity of the involved bone is a common presentation in FD [Figure 18]. Swelling can be considered as nature's protective mechanism to strengthen the affected bone by increasing its cross-sectional area. It is better not to meddle with that.
Fibular grafting with or without removing the abnormal tissue is an accepted method of treatment in FD. However, our study clearly shows fibular grafting done in skeletally immature cases did not serve the purpose [Figure 1], [Figure 2], and [Figure 7]. On the other hand, graft appears to have served as a bridge for FD cells to reach a previously unaffected bone.[14] In contrast to that, case of fibula grafting done towards the end of skeletal growth remained without involvement [Figure 4] and [Figure 13].
Malignant transformation is a rare complication of FD (0.4%–4%).[3],[4] We have come across a single case of malignant transformation into osteosarcoma [Figure 22] during our study It was a monostotic type and the lesion was localized in the proximal portion of the right femur. Index surgery (curettage, bone grafting, and stabilization with DHS) was not done by us. After 10 years, she was referred to our institution with recurrence of pain [Figure 22]d and [Figure 22]e. CT-guided biopsy showed osteosarcoma. The malignancy was successfully treated by chemotherapy, resection, and replacement of the proximal femur with mega prosthesis [Figure 22]f. Although we came across the case during our study period, this is not included in our series because, to us, presentation was as malignancy. However, this case gives us an important message. Removal of abnormal tissue does not guarantee protection from possible malignant transformation. | Figure 22: Fibrous dysplasia of right femur the case which underwent malignant transformation after 10 years. (a) and (b) shows the lesion on femur (c) curettage, bone grafting, and stabilization with DHS, (d) recurrence of lesion, (e) PET scan showed increased uptake, (f) megaprosthesis was done following diagnosis of osteosarcoma
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Occurrence of case of FD with respect to age, sex, and site is in accordance with earlier studies,[1],[4],[8],[9] except in the sex distribution. Most of the studies show slight female preponderance. In our study, males outnumbered females. This shows distribution of cases in our geographic area in South India is not much different from elsewhere.
Major limitation of our study is that we do not insist on biopsy in all the lesions [Figure 6]. we had one case were proceeding without biopsy report resulted in grave consequences. 47-year-old male diagnosed fibrous dysplasia of proximal femur on clinical and radiological grounds, was treated with fibular grafting from outside institution [Figure 6]. Biopsy taken during surgery was inconclusive. The patient attended our institution as pain increased. CT-guided biopsy show metastasis. Ultimately, it was from liver and patient died within 1 year.
Another limitation is that the study is undertaken in a single institution mostly by single person. Multi-institutional study with a greater number of cases is required for more authentic conclusions.
| Conclusion | | |
Our study shows that conservative management (observation alone) is enough in most cases of FD. When there is a pathological fracture, it is better treated with plaster immobilization. However, the lesions in the peritrochanteric region, most common site of FD, are an exception to this general rule because of the risk of Shepard crook deformity and chances of recurrent pathological fracture. The outcomes of surgical management in the peritrochanteric region were highly dependent on the patient's age at time of the initial presentation. In patients who were skeletally mature, the result was satisfactory with either with fibular graft or implant. In contrast patients who were skeletally immature, fibular graft gets involved in the disease process and do not serve its purpose.
Ethical clearance
Study has been approved by the local institutional ethics committee.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10], [Figure 11], [Figure 12], [Figure 13], [Figure 14], [Figure 15], [Figure 16], [Figure 17], [Figure 18], [Figure 19], [Figure 20], [Figure 21], [Figure 22]
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