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| {{Infobox medical condition (new) | | {{Short description|A rare bone disorder affecting the tibia and fibula}} |
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| | synonyms = '''Ossifying fibroma'''
| | '''Osteofibrous dysplasia''' is a rare, benign bone disorder that primarily affects the [[tibia]] and [[fibula]] in children and adolescents. It is characterized by the replacement of normal bone with fibrous tissue and immature woven bone. This condition is also known as ''ossifying fibroma of long bones'' and is considered a developmental anomaly rather than a true neoplasm. |
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| '''Osteofibrous dysplasia''' is a rare, benign [[Neoplasm|non-neoplastic]] condition with no known cause. It is considered a fibrovascular defect. Campanacci described this condition in two leg bones, the [[tibia]] and [[fibula]],<ref name="pmid1024109">{{cite journal |author=Campanacci M |title=Osteofibrous dysplasia of long bones a new clinical entity |journal=Ital J Orthop Traumatol |volume=2 |issue=2 |pages=221–37 |date=August 1976 |pmid=1024109 |doi= |url=}}</ref> and coined the term. This condition should be differentiated from [[Nonossifying fibroma]] and [[fibrous dysplasia of bone]]. | |
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| ==Presentation== | | ==Presentation== |
| The tibia is the most commonly involved bone, accounting for 85% of cases.<ref>{{citation |url=http://emedicine.medscape.com/article/1256595-overview |title=Osteofibrous Dysplasia |author=Robert Mervyn Letts }}</ref> It is usually painless, although there may be localized pain or fracture, and presents as a localized firm swelling of the tibia in children less than two decades old (median age for males 10, females 13<ref name="Meyers">{{cite book |url=https://books.google.com/books?id=V-7y1nNatmoC&pg=PA654 |title=MRI of bone and soft tissue tumors and tumorlike lesions |author=Steven P. Meyers |year=2008 |publisher=Thieme }}</ref>). Several authors have related this non-neoplastic lesion to [[adamantinoma]] - a tumor involving subcutaneous long bones - stating the common cause to be fibrovascular defect.<ref>{{cite journal |title=A classic adamantinoma arising from osteofibrous dysplasia-like adamantinoma in the lower leg: a case report and review of the literature |vauthors=Hatori M, Watanabe M, Hosaka M, Sasano H, Narita M, Kokubun S |year=2006 |journal=Tohoku J Exp Med |volume=209 |issue=1 |pages=53–59 |pmid=16636523 |doi=10.1620/tjem.209.53|doi-access=free }}</ref> However, the latter is distinguished from an osteofibrous dysplasia by the presence of soft tissue extension, intramedullary extension, periosteal reaction and presence of hyperchromic epithelial cells under the microscope.
| | Osteofibrous dysplasia typically presents in the first two decades of life, with most cases diagnosed in children under the age of 10. The condition is more common in males than females. Patients often present with a painless swelling or deformity of the affected limb. In some cases, there may be associated pain or tenderness, particularly if there is a pathological fracture. |
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| Osteofibrous dysplasia may also be mistaken for [[fibrous dysplasia of bone]], although osteofibrous dysplasia is more likely to show an [[Immunohistochemistry|immunohistochemical]] reaction to [[osteonectin]], [[neurofibromin 1]], and [[S-100 protein]].<ref name="Meyers" />
| | ==Pathophysiology== |
| | The exact cause of osteofibrous dysplasia is unknown, but it is thought to be a developmental disorder rather than a neoplastic process. The condition is characterized by the replacement of normal cortical bone with fibrous tissue and immature woven bone. Histologically, the lesions show a mixture of fibrous stroma and trabeculae of woven bone, often with osteoblastic rimming. |
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| =='''Epidemiology'''== | | ==Diagnosis== |
| | | Diagnosis of osteofibrous dysplasia is typically made based on clinical presentation, imaging studies, and histological examination. [[X-ray]] imaging of the affected bone usually shows a well-defined, radiolucent lesion with a sclerotic border. [[Computed tomography]] (CT) and [[magnetic resonance imaging]] (MRI) can provide additional detail about the extent of the lesion and its effect on surrounding structures. A biopsy may be performed to confirm the diagnosis and rule out other conditions such as [[adamantinoma]]. |
| *Osteofibrous dysplasia is a rare condition usually found in younger children < 10 years old. It affects males more than females.
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| *It most frequently occurs in the first two decades of life.
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| *OFD is usually localized to the [[tibia]], but the ipsilateral fibula is occasionally involved.
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| *Within the tibia, the mid diaphysis is the most commonly affected area.
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| *The involvement of the [[radius]] and [[ulna]] have also been reported.
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| *The progression of the lesion generally halts with the achievement of skeletal maturity.
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| =='''Cause'''==
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| *Osteofibrous dysplasia is a rare form of fibrous dysplasia that primarily affects the tibia and is confined to the cortices.
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| *OFD comprises 0.2% of all primary [[Bone tumor|bone tumors]]. <ref>Saber AY, Patel BC. Osteofibrous Dysplasia. [Updated 2020 Oct 12]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK563281/</ref>
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| *It is most commonly detected during infancy and childhood, and the most frequent site is the [[cortical bone]] of the anterior mid-shaft of the [[tibia]]. [[Cytogenetic]] studies show that it may occur with trisomy 7, 8, 12, 22.
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| =='''Diagnosis'''==
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| *The recommended [[x-ray]] views are [[anteroposterior]] and lateral views of the affected area. <ref>Saber AY, Patel BC. Osteofibrous Dysplasia. [Updated 2020 Oct 12]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK563281/</ref>
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| *Usually, the findings are anterior eccentric lytic tibial lesions in children that often lead to tibial bowing.
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| *The typical [[radiographic]] findings of OFD show eccentric, well-circumscribed osteolytic [[Lesion|lesions]] with a [[sclerotic]] border in the anterior [[cortex]] of the tibial [[diaphysis]].
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| *On [[MRI]], the signal intensity of OFD is intermediate on T1 and intermediate to high on T2- weighted images.
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| *MRI may help in differentiating other tumors or tumor-like lesions, which can simulate OFD in radiological features.
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| ==Treatment== | | ==Treatment== |
| | The management of osteofibrous dysplasia depends on the severity of the symptoms and the risk of complications. In many cases, observation and regular follow-up are sufficient, especially if the lesion is asymptomatic and not causing significant deformity. Surgical intervention may be necessary if there is significant pain, deformity, or risk of fracture. Surgical options include curettage, bone grafting, or, in severe cases, resection of the affected segment and reconstruction. |
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| *Osteofibrous dysplasia is treated with marginal resection with or without bone grafting, depending on the size of the [[lesion]] and the extent of bony involvement.
| | ==Prognosis== |
| *However, due to the high rate of recurrence in skeletally immature individuals, this procedure is usually postponed until skeletal maturity.
| | The prognosis for patients with osteofibrous dysplasia is generally good, as the condition is benign and does not metastasize. However, there is a risk of recurrence after surgical treatment, and in rare cases, the condition may progress to adamantinoma, a malignant bone tumor. Long-term follow-up is recommended to monitor for potential complications. |
| *[[Bracing]] may be indicated to minimize deformity and prevent fracture. <ref>Saber AY, Patel BC. Osteofibrous Dysplasia. [Updated 2020 Oct 12]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK563281/</ref>[https://www.ncbi.nlm.nih.gov/books/NBK563281//].
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| *Surgical intervention in OFD (e.g., curettage or excision) before puberty may result in a high recurrence incidence. Surgical intervention is reserved for massive or deforming lesions or pathological fractures.
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| *Many [[lesion]]<nowiki/>s behave in a benign manner and may remain asymptomatic.
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| *As noted, pathological fractures may occur, or the deformity may be significant enough to interfere with walking.
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| *Some [[progressive]] cases may lead to bone defects, requiring surgical intervention.
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| *Among surgical options, both curettage and localized [[subperiosteal]] excision carry the risk of recurrence, while radical excision and reconstruction may create additional morbidity such as pseudarthrosis.
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| *Furthermore, pathologic fractures may need surgical intervention.
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| | eMedicineTopic = 1256595
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| *[http://emedicine.medscape.com/article/1256595-overview E-medicine overview] | | ==Related pages== |
| | * [[Fibrous dysplasia]] |
| | * [[Adamantinoma]] |
| | * [[Bone tumor]] |
| | * [[Orthopedic surgery]] |
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| [[Category:Osteopathies]] | | [[Category:Bone disorders]] |
| [[Category:Skeletal disorders]] | | [[Category:Pediatric diseases]] |
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| | [[Category:Rare diseases]] |
A rare bone disorder affecting the tibia and fibula
Osteofibrous dysplasia is a rare, benign bone disorder that primarily affects the tibia and fibula in children and adolescents. It is characterized by the replacement of normal bone with fibrous tissue and immature woven bone. This condition is also known as ossifying fibroma of long bones and is considered a developmental anomaly rather than a true neoplasm.
Presentation
Osteofibrous dysplasia typically presents in the first two decades of life, with most cases diagnosed in children under the age of 10. The condition is more common in males than females. Patients often present with a painless swelling or deformity of the affected limb. In some cases, there may be associated pain or tenderness, particularly if there is a pathological fracture.
Pathophysiology
The exact cause of osteofibrous dysplasia is unknown, but it is thought to be a developmental disorder rather than a neoplastic process. The condition is characterized by the replacement of normal cortical bone with fibrous tissue and immature woven bone. Histologically, the lesions show a mixture of fibrous stroma and trabeculae of woven bone, often with osteoblastic rimming.
Diagnosis
Diagnosis of osteofibrous dysplasia is typically made based on clinical presentation, imaging studies, and histological examination. X-ray imaging of the affected bone usually shows a well-defined, radiolucent lesion with a sclerotic border. Computed tomography (CT) and magnetic resonance imaging (MRI) can provide additional detail about the extent of the lesion and its effect on surrounding structures. A biopsy may be performed to confirm the diagnosis and rule out other conditions such as adamantinoma.
Treatment
The management of osteofibrous dysplasia depends on the severity of the symptoms and the risk of complications. In many cases, observation and regular follow-up are sufficient, especially if the lesion is asymptomatic and not causing significant deformity. Surgical intervention may be necessary if there is significant pain, deformity, or risk of fracture. Surgical options include curettage, bone grafting, or, in severe cases, resection of the affected segment and reconstruction.
Prognosis
The prognosis for patients with osteofibrous dysplasia is generally good, as the condition is benign and does not metastasize. However, there is a risk of recurrence after surgical treatment, and in rare cases, the condition may progress to adamantinoma, a malignant bone tumor. Long-term follow-up is recommended to monitor for potential complications.
Related pages
