Search

Background: Myositis ossificans progressiva (MOP) is a low prevalence hereditary connective tissue disease (1:2,000,000 habitants). It is characterized by heterotopic ossification with an uncertain behavior that has been exceptionally related to neoplasms. The objective was to know the coexistence of MOP with neoplasms of mesodermal origin, so that they can be considered in the diagnosis of other patients, as well as formulate hypotheses to clarify their association., Clinical Case: 27-year-old female with right gluteal and ischitiobial muscle pain that increased with exercise, without remission with analgesics until limiting the mobility of both extremities. A bone series was requested where areas of heterogeneous radiolucency were evidenced in the region of, both, thighs and pelvis in an irregular manner, similar to bone density, which was compatible with the ultrasound and tomographic findings; we concluded that they were images of myositis ossificans of the hip. The patient reported gastric symptoms and an endoscopy was requested, which histopathologically reported diffuse gastric carcinoma with signet ring cells; cabinet images showed an ovarian tumor., Conclusion: MOP is a low prevalence disease, which is why its knowledge and suspicion are essential for the diagnosis. We found little literature that involves the three entities; therefore, their pathophysiology and understanding is limited. Regarding MOP, at this moment there is no curative treatment; however, an accurate diagnosis allows to start rehabilitation in a timely manner with an improvement in the quality of life., (© 2022 Revista Medica del Instituto Mexicano del Seguro Social.)

Fibrodysplasia ossificans progressiva is the most severe and disabling disorder of ectopic ossification in humans. It is characterized by congenital skeletal abnormalities in association with extraskeletal widespread endochondral osteogenesis. Virtually all patients show the same mutation in the "Activin A type-I/activin-like kinase-2" receptor encoding gene. As a result of this discovery there have been significant advances in the knowledge of the cellular and molecular basis of the disease. Besides allowing a better understanding of ossification process, recent evidence indicates that the primary disturbance lies within basic mechanisms of cell differentiation that are key in several physiological pathways and in the genesis of diseases with a major impact on health. In this article we summarize these breakthroughs, with implications that go beyond the limits of this devastating disease to insinuate a new model of human pathophysiology., (Copyright © 2013 Elsevier España, S.L.U. All rights reserved.)

Fibrodysplasia ossificans progressiva is a rare genetic disorder characterized by fibrotic tissue proliferation and calcification that affect body soft tissues, especially after minor traumas. Joint ankylosis and restrictive respiratory failure can be observed in the most extreme cases of the disease. Because of its rarity, diagnosis is often late and many medical actions, such as biopsy, can result iatrogenic and worsen the prognosis. Diagnosis in the neonatal period may be difficult. There is a little number of cases diagnosed at early ages. The following case concerns a child born from a mother with fibrodysplasia ossificans progressiva who had signs of the disease at birth. The presence of bilateral deformed and unusually large hallux, generally accompanied by a short and stiff neck, may help in the diagnostic process.

Fibrodysplasia ossificans progressiva (FOP) is characterized by the progressive heterotopic ossification of connective tissue. The case we report herein is a female, 10 year-old patient with the clinical and radiologic characteristics of FOP. Upon birth she had toe deformities; during childhood she had limitation of neck rotation, and at 4 years of age she had swelling of the right scapular region and a biopsy was taken. She then had induration and calcification of the surgical site. She currently has cervical spine stiffness and multiple bone masses on the scapulas, the left axillary fold, the vertebral region and the iliac crest. Molecular studies were done with sequencing of the ACVR1 gene. Mutation p.Arg206His, a mutation associated with FOP, was found; it is the most frequent mutation found in this condition. The little knowledge that physicians have about this condition lead to missed diagnoses or improper management. Estimates show that there is one case per 2 million live births. The purpose of this study is to publish one more case, confirmed clinically, radiologically, and with molecular tests.

Unlabelled: Fibrodysplasia ossificans gressiva (FOP) syndrome is a very rare connective tissue disease characterized clinically by the progressive ossification of the soft tissues, usually with hallux malformation., Material and Methods: Three patients diagnosed with FOP during 2006 were clinically, radiographically and tomographically assessed., Results: Three female patients ages 4, 6 and 12 years old with hallux deformity and indurated tumors of the trunk, neck and shoulders., Conclusion: FOP is a rare autosomal dominant genetic disease that manifests itself with ossification of the soft tissues, which progressively limits joint and trunk mobility.

We present the case of a 4 year old boy with no previous personal or family history of interest, who attended the Paediatric Department of our hospital after a physical examination revealed a painful induration in the left arm which had increased in size; imaging tests were consistent with a calcified mass in soft tissues, without cortical involvement, suspected of being malignant. Two-phase bone scintigraphy was requested in which a soft tissue lesion, not suggestive of malignancy, was detected. The biopsy was negative for malignant cells. However, in view of the progressive increase in size of the lesion, FDG positron emission tomography (FDG-PET) was performed, showing a hypermetabolic mass consistent with malignancy in the left arm, for which the patient underwent surgery for suspected possible parosteal osteosarcoma.

This is the case of a middle-aged male with a slow growing lateral cervcal painful tumour, and without previous history of local trauma. Radiological testing reveals an ossifying soft tissue lesion without any osseous compromise. The lesion is completely resected, and the histological result is of ossifying myositis. It is an osseous tumour non neoplastic that originates within muscle and in particular the flexors of the inferior extremities and thigs or in the soft tissues. The incidence within the head and neck region is low (20%). There is an hereditary progressive form, Munchmeyer's disease, and another circumscribed, which can be subdivided in traumatic or atraumatic.

Myositis ossificans circumscripta (MOC) is a rare benign hereditary disorder characterized by heterotopic bone formation in soft tissue and muscle. This disorder is rarely seen in childhood. MOC is most commonly located in the extremities. We describe a 15-year-old girl with nontraumatic MOC in the axilla. Imaging studies (radiographic, ultrasound) did not provide the correct diagnosis and did not rule out malignancy. Incisional biopsy of the mass and histopathologic examination gave the diagnosis of MOC. Some reports suggest that magnetic resonance imaging may be the first-choice diagnostic option and may avoid unnecessary biopsy. However, in many cases diagnosis is still histological. Differential diagnosis between these lesions and malignant sarcomas and fibrodysplasia ossificans progressiva is required. This entity has a good prognosis in childhood.

Fibrodysplasia ossificans progressiva is a rare hereditary connective tissue disorder due to an unknown mutation conditioning the ossification of striated muscle and soft tissues frequently related to joints and stimulated by traumatisms or aggressive iatrogenic manouvres. It produces stiffness, pain, disability, swelling and fibro-osseus masses disseminated everywhere, with a very spectacular, invalidant and irreversible clinical picture. Affection of head and neck is unusual, excepting lesions in sternocleidomastoid or masticatiry muscles. We show a systemic case of fibrodysplasia osificans progressiva with enhanced clinical and radiological findings in cervical rhachis, pharynx and larynx, oral cavity, facial bones and ear. Association of biphophonates and steroids for a long period of time seems up to now stopping the evolution but not its regression.

This paper present 2 different cases of extra-articular ankylosis of the temporo-mandibular joint by a maxillo-facial presentation of localized and generalized ossifying myositis. A review of the literature about this subject allow the AA, to describe the clinical, diagnostical and therapeutic features of this unusual pathology.

A new case of myositis ossificans progressiva is described. Authors emphasize the possibility of early diagnosis because there are characteristic malformations in this condition. Treatment with disodium etidronate (EHDP), proposed by some authors, had no clear benefit. Management of patients must concentrate on avoidance of exacerbating factors--muscle traumas--, physiotherapy and adequate psychotherapy.