Fibrous Dysplasia

Fibrous dysplasia is a benign developmental disorder of the bone that results from the arrest in the maturation of primitive woven bone into mature lamellar bone containing osteoblasts.57 It can be considered to be a hamartomatous disorder. In fibrous dysplasia os-teoblastic activity is arrested and the mature lamellar bone is not formed.57 The anomaly is considered to be the result of a specific mutation of the Gs alpha gene.58 In approximately 75% of cases, the disease involves only one bone (monostotic), and in 25% of cases, multiple bones (polyostotic) are involved. Polyostatic fibrous dysplasia develops at an earlier age than the single bone involvement and is rarely found as a part of Albright (McCune-Albright) syndrome, a rare endocrine dysfunction consisting of precocious puberty, hyperthyroidism, and cutaneous hyperpig-mentation.58,59 The most frequently affected sites of the skull are frontal, ethmoidal, sphenoidal, and temporal bones.60,61 Orbital fibrous dysplasia is usually not associated with Albright syndrome, but, a few cases of Albright syndrome with orbital involvement have been described.62

Fibrous dysplasia is usually diagnosed coinciden-tally, but if it becomes symptomatic, the signs and symptoms correlate well with the primary bone involved and the extent of the involvement.63 The globe is usually displaced inferiorly with or without prop-tosis because of the common involvement of the frontal bone (Figure 16.7). The most feared ocular manifestation is the compressive optic neuropathy secondary to sphenoid bone disease, which may present as an acute or chronic loss of visual acuity and fields.64,65 In advanced cases, the facial asymmetry may lead to serious distortion of the orbit, causing sig

FIGURE 16.6. (A,B) Bilateral proptosis of a patient with Maffucci syndrome, secondary to bilateral orbital cavernous hemangioma. (C) Plain x-ray of the arm displays multiple radiolucent areas consistent with enchondromas of the proximal radius and ulna. (D) CT scan of the abdomen shows multiple hypodense areas in the liver and spleen. (E) Histopathology of the hemangioma shown in (A). (Courtesy of Dr. Thomas E. Johnson, Miami, Florida.)

FIGURE 16.6. (A,B) Bilateral proptosis of a patient with Maffucci syndrome, secondary to bilateral orbital cavernous hemangioma. (C) Plain x-ray of the arm displays multiple radiolucent areas consistent with enchondromas of the proximal radius and ulna. (D) CT scan of the abdomen shows multiple hypodense areas in the liver and spleen. (E) Histopathology of the hemangioma shown in (A). (Courtesy of Dr. Thomas E. Johnson, Miami, Florida.)

nificant proptosis, ptosis, and lacrimal drainage system obstruction.66'67

CT is the imaging method of choice for initial diagnosis as well as for monitoring the disease during its course and postoperatively, particularly with three-dimensional re-formations. The imaging features, which vary depending on the stage of the disease and the extent of the fibrous stromal replacement, present with Pagetoid, cystic, and sclerotic patterns.68 MRI patterns of fibrous dysplasia consists of nonhomoge-neous low intensity with a sharp margin on T1-weighted images. Signal enhancement may be seen with contrast studies, but this simply offers information regarding the vascularity of the lesion rather than its fibrocellular activity.69,70

The diagnosis should be confirmed by means of a biopsy specimen; however, if the radiologic features are typical for fibrous dysplasia in a patient without symptoms, the biopsy may be delayed. Particularly when the involvement is within the posterior orbit, the task of obtaining a biopsy sample may require rather extensive surgery. Therefore, the biopsy may be postponed until the symptomatology justifies surgical excision of bone (Figure 16.8). Fibrous dysplasia compromising the optic foramen is best operated through a transcranial approach to unroof the optic canal and excise tissue from the involved bone as much as pos-sible.71 In most cases, surgical intervention is delayed until optic nerve compression is imminent or severe asymmetry of the face becomes a serious cosmetic issue.71

The histopathology consists of irregularly shaped osteoid deposits and immature, irregular bone originating from the fibrovascular stroma that creates bizarre geometric patterns resembling Chinese letters (Figure 16.7). The metaplastic bone deposits are seen without osteoblastic activity, which is helpful to differentiate fibrous dysplasia from other bone pathologies particularly from ossifying fibroma, which usually contains osteoblasts. The size of the biopsy should be as large as possible, since the histopathologic differential diagnosis may be difficult, particularly when there is malignant transformation of fibrous dysplasia into osteogenic sarcoma and fibrosarcoma.72

1 sc part three: primary tumors of the orbit part three: primary tumors of the orbit

Fibrous Dysplasia Orbital Orbital DysplasiaFibrous Dysplasia Chinese Characters

FIGURE 16.7. (A, B) A 9-year-old patient with fibrous dysplasia showing elevation of the left eyebrow and inferior displacement of the left globe that are most apparent in straight and right upper gaze photographs. (C) Coronal CT image shows the irregular sclerosis of the frontal bone including the internal and external trabulae. (D) Intraoperative photograph reveals the knotty thickening of the superior orbital rim. (E) Histopathology reveals a mixture of fibrous tissue composed of uniform spindle cells and irregular discontinuous trabeculae of bone without osteoblastic activity. (F) The birefringence of young deposits of lamellar bone formation is seen through a polarizing lens.

Ossifying Fibroma

Ossifying fibroma, otherwise known as juvenile ossifying fibroma or psammomatoid ossifying fibroma, is a fibro-osseous lesion less commonly seen than fibrous dysplasia (Figure 16.9).73-76 This is another hamartomatous, indolent fibro-osseous lesion that commonly involves the cranial bones and in almost all cases presents as a monostotic disease. Histopathology of the ossifying fibroma reveals irregular bony spicules surrounded by extensive os-teoblastic activity. As opposed to fibrous dysplasia, it is more common in females and in an age group involving adolescents and young adults. Displacement of the globe, optic nerve, and lacrimal drainage system may be seen, depending on the location of the tumor.76

On CT, ossifying fibroma presents as a well-delineated sclerosing mass with osseous trabeculae.77 Maxillary and mandibular involvement are common.78 The ossifying fibromas usually reveal intermediate signal intensity on Tl-weighted MR images and a hy-pointense signal on T2-weighted images; however, MRI is not very helpful in classifying these lesions.

The best management of ossifying fibroma is early surgical removal; in most instances the surgery is performed by a craniomaxillary team.

FIBROUS LESIONS

Fibrous lesions, which rarely develop in the craniofacial skeleton, include desmoplastic fibroma, myofi-broma, and infantile myofibromatosis. These lesions represent locally aggressive tumors with a high rate of recurrence without distant metastasis.79,80

GIANT CELL-RICH LESIONS

Giant Cell Reparative Granuloma

Giant cell granuloma (GCG), or giant cell reparative granuloma, is a reactive, nonneoplastic process that occasionally affects the bones of the skull and orbit.81-84

The majority of GCGs occur within the first two decades of life and are approximately twice as common

FIGURE 16.8. Intraoperative photographs show the use of the mallet and the osteotome to debulk the thickened dysplastic bone of the orbital roof in a lamellar fashion. Inset: Gross photograph of the resected, thin bone chips from dysplastic bone of the orbital roof.

in girls as in boys.85 These lesions have a hemorrhagic appearance on gross inspection and microscopically consist of groups of spindle-shaped fibroblasts that are mixed with collagen and numerous, multinucleated os-teoclast-like giant cells. Additionally, extensive hemorrhages, hemosiderin deposits and reactive woven bone are identified.86 The histopathologic differential diagnosis includes brown tumor of hyperparathy-roidism and giant cell tumor of bone. Histopatholog-ically, the lesion is identical to brown tumor. Only the absence of biochemical findings of hyperparathy-roidism would differentiate these two lesions.

The clinical presentation is associated with painful proptosis and encroachment onto orbital structures, depending on the location of the lesion. Radiograph-ically, central GCG forms a well-demarcated, radio-lucent, multiloculated lesion.87 The treatment of choice is aggressive surgical curettage, after which the lesion usually heals and becomes ossified.86

Osteitis Fibrosa Cystica

Osteitis fibrosa cystica, otherwise known as brown tumor, is a reactive destructive process that occurs in patients with hyperparathyroidism. In histology it is very similar if not identical to giant cell reparative granuloma and aneurysmal bone cysts; however, the latter lesions are not associated with endocrine abnormality. Brown tumor is rarely seen in the orbital region.88 CT scans and plain x-rays reveal irregular os-teolytic lesions involving the bones that may resemble the radiologic appearance of other fibro-osseous conditions (Figure 16.10).89 Once a lesion has been established as being composed of fibrous proliferation with scattered giant cells and irregular spicules of bone, appropriate endocrine studies should be done to rule out hyperparathyroidism.

FIGURE 16.9. (A) Axial CT scan showing a variably demineralized, well-delineated ossifying fibroma of the superior orbit and frontal sinus. (B,C) Histopathologically, the lesion is composed of an admixture of woven bony trabeculae and cellular fibrous tissue containing numerous psammoma bodies. (Courtesy of Dr. Curtis Margo, Tampa, Florida.)

FIGURE 16.9. (A) Axial CT scan showing a variably demineralized, well-delineated ossifying fibroma of the superior orbit and frontal sinus. (B,C) Histopathologically, the lesion is composed of an admixture of woven bony trabeculae and cellular fibrous tissue containing numerous psammoma bodies. (Courtesy of Dr. Curtis Margo, Tampa, Florida.)

FIGURE 16.10. (A) Coronal CT showing a multiloculated, destructive lesion of the ethmoidal sinus extending into the medial orbit. (B) The histopathology revealed numerous multinucleated giant cells (arrows) scattered within the fibrous tissue matrix with new bone formation, consistent with brown tumor, giant cell repar-ative granuloma, and aneurysmal bone cyst. The lesion was labeled as brown tumor because of the known hyperparathyroid state of the patient.

FIGURE 16.10. (A) Coronal CT showing a multiloculated, destructive lesion of the ethmoidal sinus extending into the medial orbit. (B) The histopathology revealed numerous multinucleated giant cells (arrows) scattered within the fibrous tissue matrix with new bone formation, consistent with brown tumor, giant cell repar-ative granuloma, and aneurysmal bone cyst. The lesion was labeled as brown tumor because of the known hyperparathyroid state of the patient.

The treatment of this lesion is surgical curettage, to which the lesion responds well. However, if the destructive process produces optic nerve compression, the visual prognosis may be poor. Systemic prognosis, on the other hand, depends on the effective management of the hyperparathyroidism.

Giant Cell Tumor

Giant cell tumor is a quasi-malignant tumor of the skeletal connective tissue commonly occurring in patients between the ages of 20 and 40 years.81'90 Approximately 20% behave in a malignant fashion; however, it is not possible to predict the malignant behavior of these tumors histopathologically or clini-cally.91'92 The classic appearance is a round, expansile, radiolucent lesion with light trabeculation. CT is valuable to define the soft tissue component; with contrast enhancement it provides useful information about the tumor's vascularity, which may be similar to that of aneurysmal bone cyst.93 MRI is superior to plain films and CT in defining the extent of the lesion. T1-weighted images show diminished signal intensity; T2-weighted images show isointense or hyperintense signal intensity of the tumor.94 Radionuclide bone scans are unreliable in GCT.

Craniofacial lesions represent approximately 2% of all giant cell tumors of bone, and GCT very rarely affects the orbit and paranasal sinuses.95 The true incidence of giant cell tumor in the craniofacial skeleton is difficult to estimate, since it is believed that many lesions that had been reported as GCT probably represent giant cell reparative granulomas.96-98

Clinical features depend on the location and range from displacement of the globe and decreased visual acuity and field.98 Plain films and CT images usually show destructive radiolucent and poorly defined lesions often associated with a soft tissue mass (Figure 16.11).97

The treatment for GCT is wide excision, as extensive as exenteration in some cases.99 Tumor-free margins should be obtained whenever possible because malignant transformation of these tumors has been reported.98

CYSTIC LESIONS Simple Bone Cyst

Simple bone cyst is a unilocular, fluid-filled cyst lined by a fibrous wall. Although it affects mostly the long bones, occasionally it is seen in the craniofacial area.100

Aneurysmal Bone Cyst

Aneurysmal bone cyst is an expansile, cystic lesion that develops within the bone from a preexisting pathology or de novo of unknown etiology.101,102 Although these lesions are most often seen in long bones, about 5% occur within the craniofacial skeleton, and a small minority is seen in the orbital region.103 Orbital aneurysmal bone cysts usually develop without any other bony pathology.104 Most of these lesions affect the orbital roof and produce gradually developing proptosis. In occasional cases, the proptosis develops rapidly, raising the clinical suspicion of malig-nancy.105 If the location of the aneurysmal bone cyst is sufficiently posterior, it may compress the optic nerve.106

Histopathologically, an aneurysmal bone cyst consists of blood-filled cystic spaces that are lined not by endothelial cells but with plump, fibroblast-like cells (Figure 16.12). Between the cystic places, a fibrovas-cular stroma containing osteoclast-type giant cells is present. Sometimes there are so many giant cells that the aneurysmal bone cyst is difficult to distinguish from a giant cell lesion of bone. These lesions also contain woven bone and partially calcified, cartilagelike matrix adjacent to cystic places.107,108 In plain films and CT findings, an aneurysmal bone cyst appears as a mildly enhancing loculated partially cystic mass.

FIGURE 16.11. (A-C) Mild axial proptosis and lateral gaze limitation of the right eye. (D) Disk edema secondary to optic nerve compression by the giant cell tumor. (E) Axial CT scan shows poorly defined, partially cystic and partially sclerotic tumor originating from the sphenoid bone with extension into the posterior orbit. (F) Histopathology shows multinucleated tumor giant cells with innumerable nuclei.

FIGURE 16.11. (A-C) Mild axial proptosis and lateral gaze limitation of the right eye. (D) Disk edema secondary to optic nerve compression by the giant cell tumor. (E) Axial CT scan shows poorly defined, partially cystic and partially sclerotic tumor originating from the sphenoid bone with extension into the posterior orbit. (F) Histopathology shows multinucleated tumor giant cells with innumerable nuclei.

Orbital Bone Tumor Child

FIGURE 16.12. (A,B) Axial CT images reveal a cystic lesion surrounded by a bony re-formation consistent with a very small bone cyst. There are numerous intralesional densities. (C,D) Microscopic blood-filled cystic spaces lined by spindle-shaped cells containing blood are identified. Clusters of plump, spindle-shaped fibroblasts are scattered among the pseudocystic spaces. Focal deposits of hemosiderin (arrows), indicating old hemorrhages, are also present.

FIGURE 16.12. (A,B) Axial CT images reveal a cystic lesion surrounded by a bony re-formation consistent with a very small bone cyst. There are numerous intralesional densities. (C,D) Microscopic blood-filled cystic spaces lined by spindle-shaped cells containing blood are identified. Clusters of plump, spindle-shaped fibroblasts are scattered among the pseudocystic spaces. Focal deposits of hemosiderin (arrows), indicating old hemorrhages, are also present.

Management of aneurysmal bone cysts is by surgical excision, which is usually done with curettage; the extent of the lesion should be determined carefully during surgery, particularly in superior orbital lesions.

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  • TOMACCA
    What is fibrous dysplasia left orbit?
    2 years ago

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