Miositis osificante progresiva: reporte de un caso / Progressive myositis ossificans: Case report

Introducción: la miositis osificante progresiva (MOP) es una enfermedad hereditaria del tejido conectivo de baja prevalencia (1:2,000,000 habitantes). Se caracteriza por osificación heterotópica con un comportamiento incierto que excepcionalmente se ha relacionado con neoplasias. Se buscó conocer la coexistencia de la MOP con neoplasias de origen mesodérmico, para que sean consideradas en el diagnóstico de otros pacientes, así como formular hipótesis para esclarecer su asociación. Caso clínico: mujer de 27 años con dolor de músculo isquitiobial y glúteo derecho que incrementaba con el ejercicio, sin remisión con analgésicos hasta limitar la movilidad de ambas extremidades. Se solicitó una serie ósea donde se evidenciaron zonas de radiolucidez heterogénea en la región de ambos muslos y pelvis de manera irregular, semejante a densidad ósea, que fue compatible con los hallazgos ecográficos y tomográficos; se concluyó que eran imágenes relacionadas con miositis osificante de cadera. La paciente refirió sintomatología gástrica y se solicitó una endoscopía que histopatológicamente reportó carcinoma gástrico difuso con células en anillo de sello; las imágenes de gabinete mostraron tumoración ovárica. Conclusión: la MOP es una patología de baja prevalencia, por lo que su conocimiento y sospecha son fundamentales para el diagnóstico. Hay poca literatura que involucre a las tres entidades; por ende, su fisiopatología y comprensión es limitada. En cuanto a la MOP, aún no hay un tratamiento curativo; sin embargo, el diagnóstico certero permite iniciar rehabilitación de manera oportuna con mejoría de la calidad de vida.

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.

Miositis osificante traumática en recién nacido: reporte de caso / Traumatic myositis ossificans in newborn: a case report

La miositis osificante traumática (MOT) es una enfermedad en la que ocurre osificación heterotópica en dos a cuatro semanas tras uno o múltiples traumatismos. El objetivo de este artículo es describir las características clínicas y radiológicas de un caso de MOT en un recién nacido (RN) después de la canulación intravenosa de vía periférica, poco frecuente en la práctica clínica en neonatología. Presentamos a un RN pretérmino de 33 semanas en que, a los 20 días de vida, se evidenció lesión tumoral en el tercio distal del antebrazo izquierdo de 3 cm por 2 cm, que no impresionaba dolor, ni limitación a la movilización, y en la que no había signos infecciosos. El resto del examen físico osteomuscular era normal. En la zona de lesión, tres semanas antes, se había instalado un catéter intravenoso periférico (CIVP). Una radiografía del antebrazo izquierdo demostró lesión calcificada al nivel de las partes blandas, sin disrupción de las estructuras óseas adyacentes; la ecografía del antebrazo reveló una imagen focal ovalada, de contornos parcialmente definidos, con sombra acústica posterior; el resto de los estudios de huesos largos era normal. Los niveles séricos de fosfatasa alcalina, calcio, fósforo también eran normales. En vista de la lesión tumoral al examen físico y la imagen calcificada en partes blandas a través de radiografía simple, con antecedente de microtraumas de VVP, se concluyó MOT. Se hizo seguimiento, con disminución del tamaño hasta que la lesión desapareció a los cuatro meses. No requirió control radiológico. La MOT es infrecuente en el RN, y, en general, la resolución es autolimitada y tiene buen pronóstico

Traumatic myositis ossificans (TMO) is a disorder in which heterotopic ossification occurs two to four weeks after one or multiple traumas. The goal of the present article is to describe the clinical and radiological characteristics of a case of TMO in a newborn (NB) after a peripheral intravenous cannulation, a rare procedure in the clinical practice of neonatology. The patient is a premature 33-week-old NB who, 20 days after birth, presented with a 3 cm x 2 cm lump in the distal third of the left forearm that did not seem to cause pain or to limit movements, and with no evidence of infection. The rest of the physical exam was within normal limits. Three weeks before the lesion, a peripheral intravenous catheter (PIVC) was placed in that area. A radiograph of the left forearm showed soft-tissue calcification without disruption of adjacent bone structures. Ultrasound revealed a focal, oval soft tissue lesion with partially-defined borders and posterior acoustic shadow; the rest of study showed normal long bones. The serum levels of alkaline phosphatase, calcium, and phosphorus were all normal. In view of the tumor lesion on the physical examination and the calcified image in softtissue on plain X-ray and a recent history of PIVC microtrauma, we reached to the diagnoses of TMO. During the follow-up, the lesion decreased in size until it completely disappeared four months after the diagnosis. No radiological control was needed. Uncommon in NBs, TMO is generally self-limited and with a good prognosis

Non-traumatic myositis ossificans

Myositis ossificans (MO) is a benign, ossifying lesion that usually affects the skeletal muscle. The rare non-traumatic form of MO can cause diagnostic dilemma and management issues. These lesions, however, have similar radiology and histopathological characteristics described in the more frequently encountered traumatic forms. Depending on the stage of the lesion, the inherent feature of myositis ossificans varies, and so does the management of the lesion. We describe a non-traumatic MO occurring in latissimus dorsi of a young girl and discuss the review of literature on this rare subtype.

Fibrodysplasia Ossificans Progressiva in three Filipino children

@#Fibrodysplasia ossificans progressiva (FOP) is a debilitating, rare, autosomal dominant disorder of connective tissue characterized by malformed great toes and by progressive endochondral ossification of extra-skeletal sites (e.g., muscles, tendons, fascia) triggered by trauma, soft tissue injury, muscle fatigue, or viral infections. We present three children affected with FOP with this classic clinical presentation, the first reported cases in the Philippines, thus extending the range of classic FOP to new geographic and ethnic locations. Two of the affected children are siblings who have the common ACVR1 R206H mutation associated with classic FOP; this mutation was not found in their parents who are phenotypically unaffected, providing evidence of germline mosaicism in FOP. To our knowledge, this is the first family with genetic testing done showing presence of the classic mutation in affected siblings not seen in the unaffected parents.

Fibrodisplasia osificante progresiva en pediatría: a propósito de un caso clínico / Fibrodysplasia ossificans progressiva in pediatrics: a case report

Introducción: La Fibrodisplasia osificante progresiva es una enfermedad congénita autosómica dominante poco frecuente, caracterizada por malformaciones esqueléticas y osificación heterotópica progresiva e invalidante. Caso clínico: Niño de 11 años consulta por múltiples lesiones osificadas en tronco y región cervical con importante limitación en su movilidad. En el examen físico destaca un ortejo mayor corto. Estudio genético muestra mutación del gen ACVR1. Recibe tratamiento con periodos cortos de corticosteroides posterior a traumas y previo a procedimientos, asociado a un manejo multidisciplinario. Revisión de la literatura: A la fecha el principal tratamiento es la prevención de los brotes de osificación y el uso de corticosteroides o antiinflamatorios cuando los brotes ya se iniciaron. Están en curso ensayos clínicos con bifosfonatos y anticuerpos anti-activina A. Conclusión: En la actualidad no existe un tratamiento específico, sin embargo, un diagnóstico precoz, la prevención de brotes y nuevas terapias podrían mejorar el pronóstico de los pacientes.

ntroduction: Fibrodysplasia ossificans progressiva is a rare autosomal dominant congenital disease characterized by skeletal malformations and progressive disabling heterotopic ossification. Clinical case: An 11-year-old boy consulted with multiple ossified lesions in the trunk and cervical regions associated with significant limitation in mobility. On physical examination, the big toe is short. Genetic study shows ACVR1 gene mutation. He received treatment with short corticosteroid periods after traumas and prior to clinical procedures, as well as a multidisciplinary management.Literature review: To date the main treatment is the prevention of ossification flare-ups and the use of corticosteroids or anti-inflammatories when they have already started. Clinical trials are ongoing with bisphosphonates and anti-activin A antibodies.Conclusion: There is currently no specific treatment, however, early diagnosis, prevention of flare-ups and new therapies could improve the prognosis of patients.

Fibrodisplasia osificante progresiva plus por una variante patogénica del gen ACVR1: caso clínico / Fibrodysplasia ossificans progressiva: report of one case

Fibrodysplasia ossificans progressiva (FOP) or myositis ossificans, is a genetic disease, with a prevalence of 1 in 2.000.000. It is caused by pathogenic variants in ACVR1 gene and characterized by soft tissue heterotopic ossification, starting in the second decade of life. It is associated to early mortality caused by respiratory complications. It evolves in flare-ups, triggered by soft tissue injuries; therapy is symptomatic, using analgesia, steroids and diphosphonates. We report a 12-year-old female with left renal agenesis, hallux valgus and intellectual disability, presenting with a six months history of thoracic kyphosis, tender nodules in the thorax, and rigidity of right elbow and left knee. Clinical examination revealed dysmorphic facial features. A magnetic resonance showed heterotopic ossification nodules, which was confirmed with spinal radiography. These findings prompted the diagnosis of FOP. Pain treatment was started, and prednisone was used during flare-ups. The ACVR1 gene was analyzed and a pathogenic variant, p. Arg206His, was found, confirming the diagnosis of FOP.

Ankylosing Neurogenic Myositis Ossificans of the Hip: A Case Series and Review of Literature / 대한고관절학회지

PURPOSE: Neurogenic myositis ossificans (NMO) in patients with traumatic spinal cord or brain injuries can cause severe joint ankylosis or compromise neurovascularture. The purpose of this study was to evaluate the clinical and radiological outcomes of and review considerations relevant to surgical resection of NMO of the hip joint. MATERIALS AND METHODS: Six patients (9 hips) underwent periarticular NMO resection between 2015 and 2017. The medical records of these patients were retrospectively reviewed. Preoperative computed tomography including angiography was performed to determine osteoma location and size. Improvement in hip motion allowing sitting was considered the sole indicator of a successful surgery. The anterior approach was used in all patients. The ranges of motion (ROM) before and after surgery were compared. RESULTS: The mean time from accident to surgery was 3.6 years. Average ROM improved from 24.3°(flexion and extension) to 98.5°(flexion and extension) after surgery, and improvement was maintained at the last follow-up. No commom complications (e.g., deep infection, severe hematoma, deep vein thrombosis) occurred in any patient. Improvement in ROM in one hip in which surgical resection was performed 10 years after the accident was not satisfactory owing to the pathologic changes in the joint. CONCLUSION: Surgical excision of periarticular NMO of the hip joint can yield satisfactory results, provided that appropriate preoperative evaluation is performed. Early surgical intervention yields satisfactory results and may prevent the development of intra-articular pathology.

Recent Topics in Fibrodysplasia Ossificans Progressiva

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease that is characterized by the formation of heterotopic bone tissues in soft tissues, such as skeletal muscle, ligament, and tendon. It is difficult to remove such heterotopic bones via internal medicine or invasive procedures. The identification of activin A receptor, type I (ACVR1)/ALK2 gene mutations associated with FOP has allowed the genetic diagnosis of FOP. The ACVR1/ALK2 gene encodes the ALK2 protein, which is a transmembrane kinase receptor in the transforming growth factor-β family. The relevant mutations activate intracellular signaling in vitro and induce heterotopic bone formation in vivo. Activin A is a potential ligand that activates mutant ALK2 but not wild-type ALK2. Various types of small chemical and biological inhibitors of ALK2 signaling have been developed to establish treatments for FOP. Some of these are in clinical trials in patients with FOP.

[Fibrodysplasia ossificans progressive: a case report]

Fibrodysplasia ossificans progressiva [FOP] is an extremely rare autosomal dominant disorder having variable expressivity with complete penetrance. FOP incidence has been estimated to be 1 per 2 million. FOP caused by mutations in ACVR1 gene encoding bone morphogenetic protein type-1 receptor. To date, 15 types of mutations have been reported. The majority of cases were determined to be the rsult of a new mutation occuring sporadically. Here we report a 20 years old girl who's suffering FOP for 11 years

Heterotopic mesenteric ossification in a child: Case report / Osificación mesentérica heterotópica en un niño: informe del caso / Ossificação mesentérica heterotópica num menino: relatório do caso

The term heterotopic ossification refers to bone formation in normally non-ossifying tissue. It represents a benign, localized, self-limiting and well-circumscribed lesion, and the phenomenon is rather unusual in the immediate vicinity of bones. Likewise, it is very rare in soft tissues such as the gastrointestinal tract, where it is also known as heterotopic mesenteric ossification (HMO). Intra-abdominal heterotopic ossification (IHO) is also known as intra-abdominal myositis ossificans, mesenteritis ossificans, heterotopic mesenteric ossification, and heterotopic ossification of the intestinal mesentery. It is extremely rare and only approximately 30 cases have been reported in the literature since it was first described in 1983. This paper presents the case of a male 14 year-old patient diagnosed with mesenteric ossification who was treated by the pediatric surgeons. Additionally, the authors present a review of the medical literature regarding this condition.

El término osificación heterotópica se refiere a la neoformación de tejido óseo en sitios donde normalmente el tejido no se osifica. Es una condición benigna, localizada, bien definida y autolimitada; ocurre con mayor frecuencia en la vecindad inmediata de los huesos. Es muy raro que se presente en los tejidos blandos del tracto gastrointestinal, donde es conocida como osificación heterotópica del mesenterio (OHM). La osificación heterotópica intraabdominal (OHI) es además conocida como miositis osificante, mesenteritis osificante, osificación heterotópica del mesenterio y osificación heterotópica del mesenterio intestinal. Es una condición extremadamente rara, con solo 30 casos aproximadamente reportados en la literatura desde su primera descripción en 1983. Este artículo presenta el caso de un niño de 14 años con diagnóstico de mesenteritis osificante que fue tratado por un grupo de cirujanos pediátricos. Además, se presenta una revisión de la literatura médica sobre esta extraña condición.

O termo ossificação heterotópica se refere à neoformação de tecido ósseo em lugares onde normalmente o tecido não se ossifica. É uma condição benigna, localizada, bem definida e autolimitada; ocorre com maior frequência na vizinhança imediata dos ossos. É muito raro que se apresente nos tecidos macios do trato gastrointestinal, onde é conhecida como ossificação heterotópica do mesentério (OHM). A ossificação heterotópica intra-abdominal (OHI) é ademais conhecida como miosite ossificante, mesenterites ossificante, ossificação heterotópica do mesentério e ossificação heterotópica do mesentério intestinal. É uma condição extremamente rara, com só 30 casos aproximadamente reportados na literatura desde sua primeira descrição em 1983. Este artigo apresenta o caso de um menino de 14 anos com diagnóstico de mesenterites ossificante que foi tratado por um grupo de cirurgiões pediátricos. Ademais, apresenta-se uma revisão da literatura médica sobre esta estranha condição.

Synovial Sarcoma Mimicking Myositis Ossificans

A calcification mass was incidentally found in the soft tissue of a patient who had a history of trauma to the extremity during examination. The patient had no symptom. The pathological analysis of the mass revealed it was an early-phase synovial sarcoma (SS). The diagnosis was made before the onset of symptoms and proper surgical intervention was performed. Therefore, in case of a <1 cm lesion clinically suspicious of myositis ossificans, SS should be taken into consideration as a possible diagnosis.

Myositis ossificans of the platysma mimicking a malignancy: a case report with review of the literature

The two main forms of myositis ossificans are congenital and acquired. Either form is rare in the head and neck region. The acquired form is often due to trauma, with bullying as a fairly common cause. This report of myositis ossificans of the platysma in an 11-year-old female patient emphasizes the need for a high index of suspicion in unexplainable facial swellings in children and the benefit of modern investigative modalities in their management.

Concurrent progress of reprogramming and gene correction to overcome therapeutic limitation of mutant ALK2-iPSC

Fibrodysplasia ossificans progressiva (FOP) syndrome is caused by mutation of the gene ACVR1, encoding a constitutive active bone morphogenetic protein type I receptor (also called ALK2) to induce heterotopic ossification in the patient. To genetically correct it, we attempted to generate the mutant ALK2-iPSCs (mALK2-iPSCs) from FOP-human dermal fibroblasts. However, the mALK2 leads to inhibitory pluripotency maintenance, or impaired clonogenic potential after single-cell dissociation as an inevitable step, which applies gene-correction tools to induced pluripotent stem cells (iPSCs). Thus, current iPSC-based gene therapy approach reveals a limitation that is not readily applicable to iPSCs with ALK2 mutation. Here we developed a simplified one-step procedure by simultaneously introducing reprogramming and gene-editing components into human fibroblasts derived from patient with FOP syndrome, and genetically treated it. The mixtures of reprogramming and gene-editing components are composed of reprogramming episomal vectors, CRISPR/Cas9-expressing vectors and single-stranded oligodeoxynucleotide harboring normal base to correct ALK2 c.617G>A. The one-step-mediated ALK2 gene-corrected iPSCs restored global gene expression pattern, as well as mineralization to the extent of normal iPSCs. This procedure not only helps save time, labor and costs but also opens up a new paradigm that is beyond the current application of gene-editing methodologies, which is hampered by inhibitory pluripotency-maintenance requirements, or vulnerability of single-cell-dissociated iPSCs.

Non-traumatic myositis ossificans circumscripta at elbow joint in a 9-year old child / 中华创伤杂志(英文版)

Myositis ossificans circumscripta (MOC) is a kind of self-localized, benign and tumor-like lesions often seen in adults, with approximately 75% of cases caused by trauma. We reported a case of non-traumatic MOC occurred at the elbow joint in a 9-year old child and it has been excised by surgery. After 18 months follow-up, a favorable outcome has been achieved with the Broberg-Morrey score of 100. We suggest that surgical resection should be done as soon as the diagnosis is confirmed.

Miositis osificante circunscrita bilateral de cadera en paciente con TEC severo complicado: caso clínico y revisión de literatura / Myositis ossificans circumscripta of bilateral hip in patient with severe complicated TBI: case report and literature review

To describe the pathology Myosistis ossificans circumscripta (MOC) in a patients with severe traumatic brain injury (TBI) complicated, emphasizing clinical features, imaging utility, surgery and postoperative prophylaxis with indomethacin. Introduction: MOC corresponds to heterotopic soft tissue calcification secondary to direct or repetitive trauma, in close relationship with TBI. The initial study is radiological, but computed tomography (CT) and magnetic resonance imaging (MRI) are the studies of choice. Case report: Male, 33 years old, polytraumatized with severe TBI complicated. That one year after his discharge from the hospital, beban with increased volume inguinocrural bilateral, progressive, compatible with bitateral MOC Brooker 4. Surgical resection im two stages, both with postoperative prophylaxis with Indomethacin. It evolved with excellent response, symtomatic remission without recurrence after two years of follow-up. Discussion: MOC is a rare disease, where the combined medical surgical management is of utmost importance when treating this disease and prevent recurrences...

Describir la patología Miositis Osificante Circunscrita (MOC) en paciente con traumatismo encéfalo craneano (TEC) severo complicado, enfatizando características clínicas, utilidad de imágenes, tratamiento quirúrgico y profilaxis postoperatoria con Indometacina. Introducción: MOC corresponde a la calcificación heterotópica de tejidos blandos secundaria a traumatismo directo o repetitivo, en estrecha relación con TEC. El estudio inicial es radiológico por tomografía computada (TC) y resonancia magnética (RNM), son los estudios a elección. Presentación de cado: Hombre, 33 años, politraumatizado, con TEC severo complicado. Que tras un año de alta comenzó con aumento de volumen inguinocrural bilateral, progresivo, compatible con MOC bilateral Brooker 4. Resección quirúrgica de dos tiempos, ambas con profilaxis postoperatoria con Indometacina. Evolucionó con excelente respuesta, remisión sintomática y sin recurrencias tras dos años de seguimiento. Discusión: MOC es una enfermedad infrecuente, donde el manejo médico-quirúrgico combinado es de suma importancia al momento de tratar esta patología y prevenir recurrencias...

Miositis osificante traumática de cadera bilateral / Bilateral hip traumatic myositis ossificans

RESUMEN La miositis osificante traumática es un proceso proliferativo, benigno, donde ocurre una metaplasia de tejido blando a hueso. El objetivo de este trabajo es presentar el caso de un paciente masculino de 17 años de edad con diagnóstico de miositis osificante postraumática en ambas caderas. A pesar de la rareza de dicha patología, su frecuencia puede ir creciendo debido al aumento de traumatismos de alta energía por accidentes de tránsito. Presentamos además una revisión bibliográfica sobre este tópico.

ABSTRACT Traumatic myositis ossificans is a proliferative benign process, where a metaplasia of soft tissue to bone occurs. The aim of this paper is to present the case of a 17-year-old male patient, diagnosed with traumatic myositis ossificans in both hips. Despite the rarity of this disease, its frecuency may increasedue to the increase in high energy trauma secondary to traffic accidents. We also present the literature review on this topic.

Presentación atípica de una metástasis ósea del pulmón / Présentation atypique d'une métastase osseuse de poumon / Unusual occurrence of osseous metastasis of the lung

Se presenta un paciente masculino de 49 años con antecedentes de Neoplasia de pulmón el cual acude por dolor y aumento de volumen en el miembro inferior izquierdo. Los estudios imaginológicos (radiografías, tomografía computarizada, gammagrafía) sugerían una miositis osificante del tercio medio de la diáfisis femoral izquierda, debido al compromiso de partes blandas, ya que es poco frecuente visualizarlo como una metástasis, pero el diagnóstico histopatológico fue el de una lesión metastásica(AU)

Here is the case of a 49 years-old male patient with a history of lung neoplasia that went to the doctor's because of pain and inflammation of his left leg. Imaging studies including X-rays, CT and scintigraphy indicated ossifying myositis in the medial third of the left femoral diaphysis due to compromised soft tissues, but the histopathological diagnosis showed a metastatic injure(AU)

Un patient âgé de 49 ans, avec des antécédents de néoplasie de poumon, est vu en consultation due à une douleur et à un grossissement du membre inférieur gauche. L'imagerie (radiographie, tomographie axiale informatisée, scintigraphie) a suggéré une myosite ossifiante au niveau du tiers moyen de la diaphyse fémorale gauche due à une lésion des parties molles. Puisque la métastase est difficile à distinguer, un test histologique a confirmé la lésion métastatique(AU)