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Fibrodysplasia (myositis) ossificans progressiva (FOP) is a rare autosomal dominant disorder in which there is a progressive ectopic ossification and skeletal malformation, mainly in the connective tissue of muscle. The diagnosis is based on the clinical findings and radiological demonstration of the skeletal malformations. We report a 5 year-old female case with FOP.
Fibrodysplasia (myositis) ossificans progressiva (FOP) is an extremely rare inherited disorder in which progressive ossification of major striated muscles, often following injury, is associated with abnormal skeletal patterning. Altered expression of bone morphogenetic proteins may be a contributory cause. To examine this hypothesis, we compared the patterns of expression of bone morphogenetic proteins (BMPs) mRNAs from lymphoblastoid cell lines from two small multigenerational families with autosomal dominant transmission of FOP. Although affected members of both families showed the characteristic phenotype of FOP, one family was more severely affected than the other. Expression of mRNAs for BMP-1, 2, 3, 5, and 6 mRNAs were not detected within the more severely affected family, but BMP-4 mRNA was expressed in affected but not unaffected members of this family. The results of linkage exclusion analysis using a highly polymorphic microsatellite marker near the BMP-4 gene were consistent with linkage of FOP and BMP-4 in this family. Within the less severely affected family, affected and unaffected members showed similar levels of mRNA expression of BMPs 1, 2, 4, and 5, and linkage of FOP to the BMP-4 gene was excluded. It is concluded that clinical, radiographic, and biochemical data in these two families with FOP establish clinical and molecular heterogeneity and also suggest the possibility of genetic heterogeneity.
Extraskeletal osseous and cartilaginous tumors and tumorlike conditions of the extremities can often be differentiated radiologically; for those that cannot, knowledge of the spectrum of lesions will allow a suitably ordered differential diagnosis. Of the osseous lesions--myositis ossificans, fibro-osseous pseudotumor, fibrodysplasia ossificans progressiva, soft-tissue osteoma, and extraskeletal osteosarcoma--all but myositis ossificans are relatively rare. Myositis ossificans has a distinct mineralization pattern that can be observed radiologically as a peripheral rim of lamellar bone. Fibro-osseous pseudotumor typically occurs in the digits of the hand and lacks the well-defined zoning pattern of myositis ossificans. The cartilaginous entities include the true tumors, soft-tissue chondroma and extraskeletal chondrosarcoma, and the tumorlike process, synovial osteochondromatosis. The tumors are relatively rare; synovial osteochondromatosis commonly affects middle-aged men, especially in the knee, and is associated with osteoarthritis. The differential diagnosis for these extraskeletal osseous and cartilaginous lesions includes soft-tissue sarcoma, benign mesenchymoma, malignant mesenchymoma (rare), calcified tophi in gout, melorheostosis (rare), pilomatricoma (rare), and tumoral calcinosis (rare).
Widespread periarticular new-bone formation (myositis ossificans) was studied in 45 patients with brain damage who were in long-term coma. Thirty-six of these patients displayed myositis ossificans around at least one major joint. The development of myositis ossificans was shown to be independent of the sex and age of the patient and also of the aetiology, duration and outcome of the coma. Radiographic evidence first appeared between one and two months after the onset of coma. The maximal spread of myositis ossificans was reached in the first five months after the onset of coma. Progression of the disease was not observed after 14 months. Myositis ossificans was defined as a progressive self-limiting disease found in comatose patients.
Focal myositis is a localised inflammatory process affecting skeletal muscles belonging to the pathological group of inflammatory pseudo tumours of soft tissue that includes myositis ossificans, proliferative myositis and nodular pseudosarcomatous fasciitis. Very rarely, it may affect one of the neck muscles and present as a neck lump, in which case both the clinical and pathological picture can mimic a sarcoma. We describe a case of focal myositis of the sternocleidomastoid muscle, present a review of this rare condition and debate the necessity of biopsy.
Periosteal osteoblastoma is an extremely rare bone-forming neoplasm located on the surface of cortical bone. Of the fewer than 30 cases of periosteal osteoblastomas found in the literature, 2 have been reported to be located in cranial bone, and these have not been documented in detail with clinical history, radiographic findings, macroscopic features, and microscopic findings. Although the differential diagnoses of periosteal lesions include parosteal and periosteal osteosarcoma, periosteal chondroma and chondrosarcoma, osteochondroma, osteoid osteoma, periostitis ossificans, and myositis ossificans, an important differential diagnosis both radiologically and pathologically of such a lesion in the cranium is meningioma. We report an unusual case of periosteal osteoblastoma located in the frontal cranial bone that was radiologically consistent with a meningioma. The differential diagnosis of metaplastic meningioma with differentiation toward bone is discussed.
Fibrodysplasia ossificans progressiva or myositis ossificans progessiva or still Munchmeyer disease is a genetic ailment with dominant autosomic transmission. It includes a high rate of change and doesn't appear any race. The authors gave an account of two remarks about it on a causal and late discovery upon two young black Africans. The first observation is a nine year-old-boy, without any similar family previous history and who has been hospitalized in maxillo-facial milieu for a mandible osteitis staphiloccocus. It showed some muscular ossifications of paravertebral, cervical, dorsal and lumbar nature--from a spontaneous appearance and evolving progressively since the age of three months. The radiographic results displayed some specific bones disorders which enable to retain the diagnosis above. The second observation is the case of a twenty four-year-old-woman who has previously benefitted from a surgical exploration a non-inflammatory muscular tumefication at the right arm which occurred at the age of twenty one. Three years later, she took surgery for the restriction of the oral gap and a right hand side lumbar paravertebral tumefaction which was thus restricting the mobility of the rachis. The radiological results have found some specific bone disorder++ at the hands and the feet which enable to link the paravertebral ossifications to their fibrodysplasic origin. Munchmeyer disease remains a affection of easy radio-clinical diagnosis. The essential point is to precociously think of it before the specific osseous anomalies occurring at the level of the feet and the hands. The functional or even vital prognosis remains closely linked to both the important and the topography of conjunctivo-muscular ossifications.
OBJECTIVE: Diffuse muscular calcification was rare myopathological change due to abnormal metabolism of calcium, which was mainly found in dermatomyositis and myositis ossificans progressiva. Here we reported a case of diffuse muscular calcification that clinically mimicked myositis ossificans progressiva. The disease might be a new type of congenital calcium metabolic disease. METHODS: A 15-year-old girl developed subcutaneous cysts in the wrist and ankle when she was 1 year old. At the age of 9, she developed recurrent fever with myalgia, fatigue and diffuse muscular calcification. It was difficult for her to squat, run or walk. Protuberance presented in the subcutaneous tissue of her trunk. Some nodules ruptured with outflow of chalky material. ESR, ENA, RF, CRP, PTH, CK were in normal limits. EMG was unremarkable. X-ray confirmed diffuse calcification in the muscle and subcutaneous tissues. Biceps muscle biopsy was performed. RESULTS: Numerous inflammatory cells infiltrated around vessels in the perimyosium with perifascicular muscle fiber atrophy and degeneration. Many RRF and SDH positive fibers were also observed. EM showed tubular reticular inclusions in vascular endothelium. CONCLUSION: Diffuse muscular calcification indicated existence of systemic calcium metabolic abnormality. As the clinical symptoms and distribution pattern of calcification were different from dermatomyositis with subcutaneous calcification and myositis ossificans progressiva, our case might be a new type of disease. The microvascular changes might result in the lesion of muscle fibers.
One hundred and thirteen cases in the files of the Netherlands Committee on Bone Tumors were diagnosed as heterotopic soft tissue ossification. Myositis ossificans was diagnosed in 62, ossifying hematoma in 21, and pseudomalignant osseous tumor of soft tissues in 30 cases. Antecedent trauma was present in 37%, 46% and 7%, respectively. Myositis ossificans arose in the large muscle groups of the thighs and upper arms; when closely related to the shaft of a bone, periosteal reactions were more outspoken. Pseudomalignant osseous tumor of soft tissues was located in the hands, feet, and pelvis, some cases were not in muscle groups and some were almost periosteal. Ossifying hematoma was located in the upper and lower legs and usually in close relation to bone. The three entities belong to the same kind of reactive mesenchymal proliferative process. The radiologic and histologic patterns are reflections of whether the lesions are closely localized to bone shafts or in soft tissues, e.g. in muscles and therefore the term "reactive mesenchymal proliferation" is preferred to myositis ossificans, pseudomalignant osseous tumor of soft tissues and ossifying hematoma. Diagnostic problems are encountered in early phases when cellularity, mitotic activity, and infiltrative spread suggest malignancy. Recognition of these reactions in early phases is important to avoid mutilating surgery.
Heterotopic ossification is a non-neoplastic deposit of bone within soft tissue (myositis ossificans). The most common localized form is post-traumatic myositis ossificans. The ultrasonographic appearance of heterotopic ossification is characterized by highly echogenic areas with attenuation or complete disappearance of the acoustic signal distal to these areas. The size and extent of para-articular ossifications can also be evaluated, and the choice of the surgical approach is facilitated and damage to soft tissue minimized by the ultrasonographic examination.
Osteosarcoma, fibrous dysplasia, and myositis ossificans contain osteoid-producing cells that are not necessarily morphologically typical osteoblasts. Nevertheless, these pathologic cells may share differentiation steps with osteoblasts at the molecular level. Osteocalcin, a bone-specific extracellular matrix protein, is a marker of mature osteoblasts. Osteocalcin is upregulated by the transcription factor core-binding factor alpha 1, which is responsible for commitment to the osteoblastic lineage, and is downregulated by MSX2, a homeobox-containing transcription factor expressed during the early proliferative phase of osteoblast differentiation. Semiquantitative reverse transcription-polymerase chain reaction was used to compare expression levels of osteocalcin, core-binding factor alpha 1, and MSX2 in 34 osteosarcoma, five fibrous dysplasia, and five myositis ossificans specimens, as well as in seven normal cortical bone samples. Despite normal or elevated levels of core-binding factor alpha-1 expression in most specimens, osteocalcin expression was low or undetectable in most cases of osteosarcoma (25 of 34) and myositis ossificans (4 of 5). Single-strand conformation polymorphism and sequencing did not identify any mutations in the DNA-binding domain of core-binding factor alpha 1. However, a high level of MSX2 expression was demonstrated in these lesions, which may inhibit osteocalcin transcription. The presence of moderate levels of osteocalcin in fibrous dysplasia may contribute to the characteristic disconnected appearance of trabeculae in that entity because osteocalcin is a negative regulator of bone formation.
Myositis ossificans traumatica is a rare clinical entity in the maxillofacial region. We present a case of myositis ossificans traumatica of the temporalis muscle following dental treatment in the form of a clinicopathologic conference. A review of the literature supporting our findings is provided.
Pseudoneoplastic tumors are considered as a clinicoanatomic entity with a characteristic macro- and microscopic pattern, obscure etiology and genesis. The dissection data have demonstrated the forms of pseudoneoplastic processes. Observations of the most rare pseudotumors, such as "inflammatory" pseudotumor and tumor-like myositis ossificans are presented. "Inflammatory" pseudotumors are characterized by the involvement of the immune system cells, increased fibrillogenesis, and intensive osteogenesis in the lungs and the stomach. Cases of pseudoneoplastic myositis ossificans combined with tissue malformation are given particular attention.
Twenty-one cases of a benign fibro-osseous pseudotumor occurring in the soft tissues of the digits are described. They affected mostly young adults. Twenty of the 21 cases involved the soft tissues of the fingers, especially the proximal portions of the index or middle finger, and one case involved the toe. Microscopically these tumor-like lesions closely resembled myositis ossificans, but unlike this process they involved chiefly the subcutaneous tissue and adjacent fibrous structures and were marked by an irregular multinodular growth pattern without the typical zoning of myositis ossificans. Because of the focal hypercellularity, cellular atypia and increased mitotic activity six of the cases were initially interpreted as being parosteal or extraskeletal osteosarcoma. Follow-up information indicates that this lesion behaves in a nonaggressive fashion and is curable by complete local excision.
A case of a melanotic schwannoma presenting as a soft tissue mass of the abductors of the hip is reported. The radiographic findings suggested myositis ossificans, but several subtle findings raised the concern for something else. A bilobed appearance, lack of classic zoning pattern of the ossification, and atypical pain pattern should alert the physician. Biopsy should be considered if the radiographic and clinical presentations are not classic for myositis ossificans.
Myositis ossificans progressiva is an autosomal dominant disease resulting in progressive ossification and skeletal deformities, mainly in the connective tissue of muscle. The diagnosis is based on clinical and radiological findings and demonstration of skeletal malformations. We report a singular case of advanced myositis ossificans progressiva in a fourteen year old male and analyse the natural history, etiopathology, treatment alternatives and prognosis of this crippling disorder.
Restriction of the mouth opening from a pathologic condition outside the temporomandibular joint is called a pseudo- or extra-articular ankylosis. The authors report two cases of severe post-traumatic pseudoankylosis. One case showed fibrous degeneration of the bilateral masseter muscles without a facial bone fracture, which caused severe trismus, a mouth opening of less than 2 mm, and gradually appeared after blunt injuries to the face. The other was a rare case accompanied with the bone formation in the masseter muscle and was diagnosed as myositis ossificans traumatica, which also presented as severe trismus, with a maximal mouth opening of 5 mm after facial violence. Both were surgically treated with dissection of the affected muscles. In addition, a hemicoronoidotomy was performed in the case of myositis ossificans traumatica. Although a conservative therapy with physical rehabilitation is the basic policy for the management of pseudoankylosis of the temporomandibular joint, a surgical treatment should be considered when the origin of the problems is an osteogenic character or severe extra-articular ankylosis resistant to conservative therapy before completion of true temporomandibular joint ankylosis.
The computed tomographic (CT) scans and medical records of 35 patients with proven benign soft-tissue masses of the extremities were reviewed to assess the contribution of CT in the evaluation of such masses. CT demonstrated the mass in all 35 cases and was able to provide a specific diagnosis in 28 (80%); 25 prospectively, three retrospectively. Correct diagnoses made using CT included hematomas (five), synovial cysts (seven), myositis ossificans (six), fatty tumors (four), aneurysms (three), pseudoaneurysms (two), schwannoma (one), and abscess (one). The CT appearance of a hematoma depends on its age. Synovial cysts are near-water-density masses, often associated with a small joint effusion. Myositis ossificans can be differentiated from parosteal osteosarcoma by virtue of its characteristic zonal ossification. Lipomas are recognized on noncontrast scans by the characteristic low attenuation of fat, while aneurysms and pseudoaneurysms are best diagnosed on postcontrast scans. In seven cases (20%) a specific diagnosis could not be made on the basis of the CT scan. However, in these cases CT delineated the extent of the mass and demonstrated its relation to surrounding structures; this anatomic information was helpful in planning surgical excision or percutaneous biopsy. The authors conclude that CT is a valuable noninvasive imaging method for the evaluation of soft-tissue masses of the extremities.