Fibromyxoma of the axis

Fibromyxoma of bone is a rare benign tumor of fibrous tissue origin. The typical location is the jaws. Sporadic extragnathic cases have been reported, but fibromyxoma of the spine has not been reported. The histological appearance of fibromyxoma is benign and includes abundant extracellular fibrous and myxoid stroma with varying amounts of calcification and ossification. Myxoid changes are usually extensive. Extragnathic fibromyxoma of bone should be distinguished from benign cartilage-forming bone tumors, such as chondromyxoid and myxoid chondrosarcoma and myxoma of bone. It has also been suggested that fibromyxoma is a variant of myxoid fibrous dysplasia, whereas other authors reported extragnathic fibromyxoma resulting from myxoid degeneration of bone tumors, such as chondrosarcoma or fibrosarcoma. The overtreatment of patients with fibromyxoma of bone due to an aggressive imaging appearance should be avoided; the prognosis is excellent compared with the jaw variant and depends on the location and extent of the tumor. This article describes a case of a 21-year-old woman with fibromyxoma of bone originating from the spinous process of the axis. Clinical examination showed a tender mass in the midline of the posterior aspect the neck and slight limitation of neck range of motion; neurologic examination was normal. Diagnosis was obtained with a preoperative biopsy. Marginal excision of the lesion with posterior laminectomy of the axis was performed. The facets were preserved, and no fusion was performed. At last follow-up 2 years after diagnosis and treatment, the patient was asymptomatic with no evidence of local recurrence.     

Ossifying Fibroma of Non-odontogenic Origin: A Fibro-osseous Lesion in the Craniofacial Skeleton to be (Re-)considered

In the cranio-facial skeleton, a heterogeneous group of well characterized fibro-osseous lesions can be distinguished. Whereas fibrous dysplasia can affect any skeletal bone, ossifying fibroma and cemento-osseous dysplasia exclusively develop in the cranio-facial region, with most subtypes restricted to the tooth bearing areas of the jaws. Herein we present a series of 20 fibro-osseous lesions that developed mostly in the frontal bone and in the mandible, presenting as expansile intramedullary tumors with a unique histologic appearance and an indolent clinical course. We provide evidence that these tumors are distinct from the categories included in the WHO classification and are therefore currently unclassifiable. The definition of cemento-ossifying fibroma as an odontogenic neoplasm developing only in close proximity to teeth should be re-considered and incorporate also extragnathic lesions as shown here.Supplementary InformationThe online version contains supplementary material available at 10.1007/s12105-021-01351-3.     

Mazabraud's syndrome: intramuscular myxoma associated with fibrous dysplasia of bone

A 53 year old male with a large swelling on the medial aspect of his right thigh was referred with a presumptive diagnosis of soft tissue sarcoma. However, biopsy revealed intramuscular myxoma and X-rays and CT scans suggested fibrous dysplasia of adjacent bone. Angiography had shown an expanded, hypervascular, intramedullary lesion in the femur, and a large avascular soft tissue mass lying medially in the distal thigh. Fibrous dysplasia of the femur was confirmed on bone biopsy. Subsequently one large and two smaller intramuscular myxomata were excised, with an uneventful postoperative course. This case illustrates Mazabraud's syndrome: the rare association between benign intramuscular myxoma and fibrous dysplasia of bone.     

Osteogenic sarcoma and soft tissue myxoma in a patient with fibrous dysplasia and hemoglobins JBaltimore and S

A 41-year-old man with recognized polyostotic fibrous dysplasia since late childhood developed fibroblastic osteogenic sarcoma in the left tibia. Four months after the initial diagnosis, an intramuscular myxoma was discovered in the left thigh. Twenty years previously he had been found to be heterozygous for hemoglobins JBaltimore and S. Malignant transformation in fibrous dysplasia is unusual and may be associated in some individuals with prior irradiation. Soft tissue myxomas associated with fibrous dysplasia are even rarer. To the best of the authors' knowledge the occurrence of both of these lesions in a patient with fibrous dysplasia has been reported only once before. Patients with both fibrous dysplasia and myxomas may be at greater risk for malignant transformation than are individuals with only one of these lesions. There is no well-recognized association between hemoglobinopathies and either fibrous dysplasia or bone tumors. It is therefore probable that the rare constellation of findings is in this patient a stochastic event.     

Cystic fibrous dysplasia in the long bone

Prominent osteolysis associated with "ground glass" density of fibrous dysplasia may indicate cystic change or sarcomatous transformation. This complication has been reported only sporadically in the long bones. This article presents clinical, radiographic, and pathologic findings, and outcome of simple curettage and bone graft observed in a series of 8 patients with prominent cystic fibrous dysplasia of the long bone. Magnetic resonance imaging features provide a basis for separation of benign cystic change from malignant transformation. However, biopsy is necessary to distinguish nonspecific cystic degeneration from secondary aneurysmal bone cyst. Simple curettage with allo-chip-bone graft is an effective treatment for cystic fibrous dysplasia.     

Osteofibrous dysplasia-like adamantinoma versus osteofibrous dysplasia in children: A case report of challenging diagnosis

IntroductionOsteofibrous dysplasia (OFD) and Osteofibrous dysplasia-like Adamantinoma have a similar appearance both in clinical and radiography, but different in its histopathology. Despite this similarity, the treatment and prognosis are different, therefore the diagnosis should be established precisely.Case illustrationA three-year-old boy was admitted to hospital after falling on his lower leg. A bead size lump appeared on his tibia with pain and swelling, which later became enlarged. Diagnosis of osteofibrous dysplasia and adamantinoma was considered. We performed limb-salvage procedure by curretage, bone grafting, and internal fixation application. The histology section showed woven bone rimmed by polygonal osteoblast cell with intervening fibrous stroma and small nests of tumour cells raised the possibility of epithelial differentiation. The positivity for cytokeratin immunostaining confirmed the diagnosis as osteofibrous dysplasia-like adamantinoma. In this case it is a very rare spectrum of malignancy in children.DiscussionThese two tumor entities have identical radiographic characteristics, histopathology features the distinction between classic adamantinoma and OFD-like adamantinoma based on the predominant epithelial component. The relationship of osteofibrous dysplasia with adamantinoma is unclear. Several authors considered possible calling relationship osteofibrous dysplasia as “juvenile adamantinoma”. However, does not rule out the possible existence of de novo osteofibrous dysplasia not related to adamantinoma.ConclusionsOFD-like adamantinoma and Osteofibrous Dysplasia had similar histopathology pattern, a pathologist must be aware of this feature and perform immunohistochemical staining for keratin particularly when the histopathological feature of osteofibrous dysplasia showed small nests of tumor cells within the fibrous stroma. diagnostic challenging and require multidisciplinary approach.     

Digital fibromyxoma (superficial acral fibromyxoma): a detailed characterization of 124 cases

Digital fibromyxoma (first described by Fetsch and colleagues as superficial acral fibromyxoma) is a distinctive soft tissue tumor with a predilection for the subungual or periungual region of the hands and feet. This report details the histologic, immunophenotypic, and clinical findings in 124 cases of digital fibromyxoma. The study group included 70 male and 54 female patients (1.3:1, M:F), ranging in age from 4 to 86 years (mean, 48 y; median, 49 y). Mean tumor size was 1.7 cm (range, 0.5 to 5 cm; median, 1.5 cm). Nearly half of the patients (41%) presented with a painful mass. Tumors arose on the hands (52%) or feet (45%), with rare tumors arising on the ankle or leg. Most tumors occurred on the digits (94% of hand tumors, 82% of foot tumors), with the majority growing in close proximity to the nail (97% on fingers, 96% on toes). Histologically, 80% of cases were poorly marginated; 70% infiltrated the dermal collagen, 27% infiltrated fat, and 3% invaded bone. In cases in which imaging studies were available, bone involvement by an erosive or lytic lesion was more frequent (9/25, 36%). All tumors were composed of spindle-shaped or stellate-shaped cells with palely eosinophilic cytoplasm and a random or loosely fascicular growth pattern. The tumor cells were separated by dense hyaline collagen alternating with myxoid stroma. Most (86%) of the tumors showed alternating areas of fibrous and myxoid stroma, 11% showed predominantly fibrous stroma, and 3% had predominantly myxoid stroma. Increased mast cells were noted in 88% of tumors. All tumors comprised cells with minimal atypia, occasionally showing scattered larger cells with so-called "degenerative change." Mitotic figures were infrequent, and all tumors lacked necrosis, pleomorphism, or neural/perineural infiltration. Multinucleate stromal cells were occasionally seen. Tumor cells were reactive for CD34 in 42/61 cases (69%), with rare tumors showing focal reactivity for EMA (3/40, 7.5%), smooth muscle actin (5/42, 12%), and desmin (1/18, 6%). All tumors were negative for S100 (0/66), MUC4 (0/11), GFAP (0/10), AE1/AE3 (0/4), Cam5.2 (0/2), PanK (0/2), Claudin (0/4), and NFP (0/3). Follow-up in 47 cases ranged from 1 to 252 months (mean, 35 mo). Ten tumors (24%) recurred locally (all near the nail unit of the fingers or toes) after a mean interval of 27 months. One tumor recurred twice. All recurrent tumors had positive margins on initial biopsy or subsequent excision and no other clinical or pathologic features correlated with recurrence/persistence. To date, no tumor has metastasized. Finally, sequencing of 8 digital fibromyxomas failed to reveal mutations in exon 8 or 9 of GNAS1, in contrast to intramuscular or cellular myxoma.     

Fibrous dysplasia: a case report and literature review

The unusual case of fibrous dysplasia located in the distal phalanx of the hallux is presented with a review of literature. Fibrous dysplasia is a benign disorder that can affect one or many bones in any particular case. The bone involvement is characterized by the presence of fibro-osseous tissue within the interior of the affected bone. Pathologic, clinical, and radiographic findings will be discussed.     

Activating mutations of Gs protein in monostotic fibrous lesions of bone

Activating mutations of the alpha chain of the heterotrimeric signal transducer Gs disrupt the inherent guanosine triphosphatase activity of the alpha chain, stimulate adenylyl cyclase, and can result in independent cell proliferation. Such mutations are identified in a number of endocrine disorders, including McCune-Albright syndrome, which is a triad of endocrinopathy, café au lait spots, and polyostotic fibrous dysplasia. The mutation in this syndrome is a missense point mutation in exon 8 that results in the substitution of either histidine or cysteine for arginine at position 201. Monostotic fibrous dysplasia is a nonhereditary isolated bone lesion. Other isolated bone lesions that share some cytologic and clinical similarities to fibrous dysplasia are osteofibrous dysplasia and aggressive fibromatosis involving bone. Four cases of monostotic fibrous dysplasia, four cases of aggressive fibromatosis involving bone, and one case of osteofibrous dysplasia were studied to determine if a mutation was present in exon 8 of the alpha chain of Gs. A missense mutation was present in all of the fibrous dysplasias. The other fibrous lesions and uninvolved tissue did not contain a mutation. Somatic activating mutations of Gs differentiate fibrous dysplasia from the other lesions and may be responsible for the loss of control of local proliferation and growth factor expression.     

Fibrous dysplasia protuberans in a patient with McCune-Albright syndrome

Fibrous dysplasia protuberans refers to a benign fibro-osseous exophytic mass originating in the intra-medullary cavity of an adjacent bone. A case of fibrous dysplasia protuberans is hereby presented, manifesting as an exudative pleural effusion in a 49 years old male with history of McCune-Albright syndrome. This case represents the first reported case of fibrous dysplasia protuberans in a patient with McCune-Albright syndrome. Without a high index of suspicion, detailed radiographic imaging and meticulous histological examination, this benign bony excrescence is likely to be misdiagnosed, especially in a patient with no previous history of fibrous dysplasia.     

Fibrous dysplasia of the temporal bone: the use of computerized tomography

Fibrous dysplasia of the temporal bone is a rare condition characterized histologically by proliferation of fibrous tissue with scattered trabeculae of immature bone. Eighteen cases of monostotic fibrous dysplasia of the temporal bone have been reported in the literature. The clinical course of temporal bone fibrous dysplasia is unpredictable. Potential complications include cholesteatoma, recurrence, and malignant transformation. Surgery has been the recommended treatment, but the indications, approach, and extent have not been clearly established. The introduction of computerized tomography with high-resolution bone reconstruction is a significant advance in the therapeutic approach to temporal bone fibrous dysplasia. It accurately defines the extent of the disease within the temporal bone, and periodic scanning will reveal any progression. This information can be used to resolve many surgical dilemmas and to minimize secondary complications. This article includes a comprehensive review of the literature on temporal bone fibrous dysplasia and summarizes a case in which computerized tomography was used.     

Bisphosphonate therapy in fibrous dysplasia

Fibrous dysplasia is proliferation of fibrous tissue within the bone marrow causing osteolytic lesions and pathologic fractures. Recently, second generation bisphosphonates have shown promise in the treatment of patients with fibrous dysplasia. In the current study, six patients with fibrous dysplasia were treated with either oral alone or oral and intravenous bisphosphonates. The participants were observed for changes in N-telopeptide, pain score, and radiographic changes. In the current study, the combination bisphosphonate therapy diminished pain, prevented fractures, lowered N-telopeptide values, and led to partial resolution of fibrous dysplasia lesions.     

Oral alendronate treatment for polyostotic fibrous dysplasia: a case report

Recently, intravenous therapy with pamidronate has been reported to be effective for treating fibrous dysplasia. However, very little is known about the efficacy of oral alendronate for fibrous dysplasia. We describe a patient with polyostotic fibrous dysplasia, who had complained of persistent pain for more than 20 years, that was treated with oral alendronate alone. Follow-up examinations were at intervals of 3 months for 2 years. The pain, radiographic findings, and bone turnover, which was monitored using various markers, improved. No adverse side effect was noted. Oral alendronate is suggested to be a useful option in the treatment of polyostotic fibrous dysplasia.     

Mazabraud’s syndrome: a new case and review of the literature

The association between muscular myxomas and fibrous dysplasia is a rare condition known as Mazabraud’s syndrome, as reported by Henschen (Verh Dtsch Ges Pathol 21:93–97, 1926) and Mazabraud A and Girard (Rev Rhum Mal Osteoartic 24(9–10):652–659, 1957). We report a case of a 32-year-old woman with multiple myxomas in her right thigh and monomelic fibrous dysplasia. A review of the international literature referring to 67 cases to date was carried out. The syndrome is characterised by the following features: females are twice as likely to be affected as males; the lower limbs are the most frequently affected, fibrous dysplasia is more common in the femur and the pelvis and myxomas in the quadriceps muscle; myxoma is multiple in more than 70% of cases. Although there has never been any continuity between tumours and bone lesions, a significant correlation between dysplastic bone and myxoma has been revealed.

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Résumé  L’association entre un myxome musculaire et une dysplasie fibreuse est rare (Mazabraud, 3 à 6). Nous avons rapporté le cas d’une femme de 32 ans présentant un myxome musculaire multiple, au niveau de la cuisse droite et une atteinte de dysplasie fibreuse. La revue de la littérature internationale permet de rapporter 67 cas caractérisant une telle symptomatologie. Les femmes sont atteintes deux fois plus fréquemment que les hommes et les membres inférieurs également (la dysplasie fibreuse est fréquente au niveau du fémur et du bassin). Le myxome musculaire étant surtout localisé au niveau du quadriceps. Ces myxomes présentent généralement des lésions multiples dans 70% des cas. Si on ne peut pas mettre en évidence de continuité entre ces deux tumeurs, leur association existe néanmoins.

     

Pretherapeutic diagnosis of fibrous dysplasia

A safe differentiation of fibrodysplastic lesions from "real" bone tumours is of high importance because a fibrous dysplasia often requires no further therapy. While polyostotic involvement of fibrous dysplasia can be safely diagnosed before therapy, in monostotic disease differential diagnostic problems may occur. In the present investigation only in 6 of 14 mon- and biostotic lesions caused by fibrous dysplasia a correct diagnosis could be established by radiologic methods. However, in all cases of fibrous dysplasia malignancy could be excluded by radiology and the false diagnosis had no therapeutic consequences.     

Benign fibrous histiocytoma of bone

The cases of seven patients who had a lytic lesion that was histologically similar to a metaphyseal fibrous defect (non-ossifying fibroma) of bone were studied. The patients all were adults and had pain without a fracture. These features were considered distinctive for the lesion, which has the same histological appearance as benign fibrous histiocytoma of soft tissue. The lesion is a benign tumor with fibroblastic and histiocytic differentiation. This picture may be seen in foci in other lesions of bone (aneurysmal bone cyst, fibrous dysplasia, and giant-cell tumor). Ten cases of giant-cell tumor of bone that had a large component of the same foci were also reviewed. It should be emphasized that these areas are secondary reactive tissue rather than the true neoplastic tissue of benign fibrous histiocytoma.     

Management of fibrous dysplasia. A report on 36 cases

A consensus on the clinical course of fibrous dysplasia has not yet emerged in the literature. We retrospectively evaluated 36 patients who were diagnosed with fibrous dysplasia in our institution and were followed for a mean duration of 56.5 months (range 7-210 months). Their mean age was 25.8 years (range 5-67 years); 46.7% were male. The most frequent presenting complaints were pain (66% of patients) and pathological fracture (20%). Osteosarcoma developed in one patient 20 years after he had undergone radiation therapy for fibrous dysplasia in the tibia. Mazabraud syndrome was encountered in two patients, and aneurysmal bone cyst associated with fibrous dysplasia was seen in one patient. Fibrous dysplasia is generally considered a static disease, but with long-term follow-up it is found to have a more dynamic nature. For this reason, patients with fibrous dysplasia should be followed carefully over the long-term.     

Fibrous Dysplasia of the Maxilla: Diagnostic Reliability of the Study Image. Literature Review

Objective Fibrous dysplasia (FD) is a benign bone disorder in facial bones. This study evaluates the possibility of diagnosing fibrous dysplasia on imaging alone, without biopsy of the lesion, which is often burdensome for the patient. Materials and Methods The authors bring their experience of four cases of bone lesions of the maxillofacial region and present a review of published studies. The imaging techniques evaluated are computed tomography (CT) and magnetic resonance imaging (MRI) with and without contrast. Results The literature review demonstrates that it is impossible to make diagnosis of fibrous dysplasia exclusively by imaging. Radiographic images often show a ground-glass appearance, which is characteristic but not pathognomonic of fibrous dysplasia. Conclusion Although CT and MRI images may in many cases suggest a diagnosis of fibrous dysplasia, histological examination or follow-up imaging should follow.     

Early management of pathological fractures in children

The management of pathological fractures in children remains controversial. The indications for surgical treatment are unclear and the need for histological diagnosis before or after definitive treatment is not clearly defined. We reviewed retrospectively the records of all patients under the age of 16 years who presented over the past 7 years with a fracture as the first manifestation of bone pathology. There were 23 patients (16 boys and 7 girls) of an average age of 12 years and 2 months (range 4.1-15.8 years). There were nine cases of fracture through a simple bone cyst, five cases of fibrous dysplasia, two giant cell tumours, three aneurysmal bone cysts, one chondroblastoma, and three cases of Ewings sarcoma. After review of our cases we propose a simple algorithm for the safe early management and assessment of paediatric pathological fractures. We recommend that primary fixation of pathological fractures should be avoided until histological diagnosis is obtained. Most lesions should eventually be biopsied. However, if radiographic appearances are reassuringly benign, biopsy can be delayed until conservative fracture management is completed. Definitive treatment of benign lesions with protective intra medullary nailing or curettage and grafting can follow frozen section under the same anaesthetic.