Osteofibrous Dysplasia Clinical Presentation

Updated: Aug 17, 2021
  • Author: Darin Davidson, MD; Chief Editor: Omohodion (Odion) Binitie, MD  more...
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Presentation

History and Physical Examination

Classically, osteofibrous dysplasia has been described as painless, with a localized, firm swelling of the tibia as the presenting complaint. The tibia frequently is bowed anteriorly or anterolaterally. [27]

Park et al reported that of 80 patients, 25% complained of pain, 12.5% had a pathologic fracture, 8.8% presented with tibial swelling, and 6.2% presented with deformity. [25] Sweet et al reported that 18 of 30 patients (60%) presented with complaints of pain, 13 (43%) with swelling, and four (13%) with deformity. [6] One lesion was an incidental finding.

Komiya and Inoue reported similar presenting complaints in a series of 10 cases. [14] Ishida et al reported a duration of symptoms in 11 of 12 patients ranging from 2 months to 5 years, with an average of 14 months; one lesion was asymptomatic. [7] Of three newborns with osteofibrous dysplasia of the tibia, two had swelling and one had pathologic fracture.

Osteofibrous dysplasia vs adamantinoma

Osteofibrous dysplasia and adamantinoma have similar clinical presentations, as well as similar radiologic and pathologic findings. Although adamantinoma can sometimes have the appearance of a low-grade osteogenic sarcoma, osteofibrous dysplasia does not exhibit histologic characteristics of malignancy.

There may be histologic gradations between osteofibrous dysplasia, benign adamantinoma, and the malignant appearance of more aggressive adamantinoma, which usually is encountered in adults. In the latter, osteoid production with cellular mitoses may give the appearance of an osteogenic sarcoma and, indeed, may progress to frank malignancy.

Because the clinical course and radiologic appearance of osteofibrous dysplasia are diagnostic in children, biopsy seldom is indicated and should be avoided, if possible. In patients presenting at skeletal maturity, in whom the incidence of adamantinoma is higher, biopsy of the midportion of the lesion may be necessary for diagnosis. Complete resection of the entire lesion of osteofibrous dysplasia is neither recommended nor necessary.

Several authors have investigated the possible relation between adamantinoma and osteofibrous dysplasia. [28, 29] Dockerty and Meyerding first reported a relation between benign fibro-osseous lesions and adamantinoma. [30] Markel was the first to investigate this relation thoroughly. [31] Subsequently, three cases of tibial adamantinoma that mimicked osteofibrous dysplasia were reported, two of which occurred in children younger than 10 years. [32]

Several investigators have proposed that osteofibrous dysplasia represents a benign form of adamantinoma or results from a resolved adamantinoma. [33] Czerniak et al described an intracortical lesion with pathologic findings similar to those of osteofibrous dysplasia, which they termed differentiated adamantinoma. [34] Further, they described differentiated adamantinoma as affecting individuals younger than those with classic adamantinoma. Czerniak et al and Springfield et al reported that differentiated or osteofibrous dysplasia–like adamantinoma can progress to adamantinoma. [34, 35] Thus, these lesions may represent intermediates in a continuum from osteofibrous dysplasia to adamantinoma. [36, 37]

Hazelbag et al reported several findings that support the connection between the two conditions, as follows [38] :

  • First, they noted continuity from epithelial cells in osteofibrous dysplasia to primary epithelioid tumor, as in adamantinoma
  • Second, the mean age at diagnosis of osteofibrous dysplasia and osteofibrous dysplasia–like adamantinoma is younger than the mean age at diagnosis of adamantinoma
  • Third, there are similar radiographic findings
  • Fourth, two patients in their study demonstrated progression from osteofibrous dysplasia to adamantinoma at the time of local recurrence; though it has also been suggested that the sequence may occur in reverse (ie, that adamantinoma may regress to osteofibrous dysplasia), Springfield et al disputed this claim and indicated that such regression is not likely [35]

Findings supporting a relation between the two conditions are in conflict with an investigation by Park et al, who reported no progression from osteofibrous dysplasia to adamantinoma and contended that osteofibrous dysplasia is distinct from adamantinoma. [25]  They did, however, suggest that osteofibrous dysplasia might be related to fibrous dysplasia, on the grounds that two cases in their series transformed from osteofibrous dysplasia to monostotic fibrous dysplasia. Subsequent studies have reached similar conclusions. [39]

Several reports on the pathology of adamantinoma have shown that the lesion may have areas resembling osteofibrous dysplasia in appearance. [40] This finding suggests the potential for misdiagnosis in cases of inadequate biopsy; such misdiagnosis may explain the reports of progression of osteofibrous dysplasia to adamantinoma.

Thus, Springfield et al suggested that histologic diagnosis of osteofibrous dysplasia should be regarded with caution. [35] Hazelbag et al advocated biopsy of the center of the lesion to avoid such an error, whereas Sweet et al suggested examination of the entire specimen to identify areas consistent with adamantinoma. [6, 38]