ABSTRACT
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.
Subject(s)
Humans , Male , Child , Ossification, Heterotopic/drug therapy , Myositis Ossificans/diagnosis , Myositis Ossificans/therapy , Ossification, Heterotopic/diagnosis , Adrenal Cortex Hormones/therapeutic useABSTRACT
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...
Subject(s)
Humans , Male , Adult , Myositis Ossificans/diagnosis , Myositis Ossificans/etiology , Myositis Ossificans/therapy , Brain Injuries, Traumatic/complications , Calcinosis , HipABSTRACT
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.
Subject(s)
Humans , Male , Adolescent , Myositis Ossificans/surgery , Myositis Ossificans/diagnosis , Hip/surgery , Hip/diagnostic imagingABSTRACT
OBJETIVO: Buscou-se demonstrar ser possível diagnosticar a fibrodisplasia ossificante progressiva na atenção primária à saúde. DESCRIÇÃO DO CASO: Paciente de dez anos que, desde os quatro anos, mostrava rigidez progressiva nas articulações e na coluna vertebral, além de ossificações de partes moles, muitas vezes associadas a traumatismos. Havia desvio de hálux valgo dos primeiros artelhos de ambos os pés, presente desde o nascimento. Por meio de radiografias, demonstrou-se a presença de ossificações heterotópicas. COMENTÁRIOS: É possível realizar o diagnóstico desta doença com recursos disponíveis em atenção primária à saúde, uma vez que se baseia fundamentalmente em critérios clínicos. Atualmente, não existe cura para a doença, mas é possível limitar o desenvolvimento de novas calcificações, assim como mitigar a dor causada pelos recrudescimentos da doença, melhorando a qualidade de vida dos pacientes. Para isso, são utilizadas altas doses de corticoides e anti-inflamatórios não esteroides, disponíveis nos níveis primários de atenção.
OBJECTIVE: To show that it is possible to diagnose fibrodysplasia ossificans progressiva in the primary health care. CASE DESCRIPTION: A 10-year-old female patient that has developed, since the age of 4, progressive stiffness of the joints and spine and ossification of soft tissues, often associated with trauma. The hallux valgus deviation of both toes was present from birth. X-ray showed the presence of heterotopic ossification. COMMENTS: This disease is likely to be diagnosed with the resources available in primary health care, since it is based on clinical findings. Currently, there is no cure for this disease, but high doses of corticosteroids and the use of nonsteroidal anti-inflammatory drugs, which are available in the primary care level, may limit the development of new calcifications and mitigate the pain, improving the quality of life of these patients.
OBJETIVO: Se buscó demostrar que es posible diagnosticar la Fibrodisplasia Osificante Progresiva (FOP) desde la atención primaria de Salud. DESCRIPCIÓN DEL CASO: Se describe el caso de una paciente de 10 años que desde los 4 años, desarrolla rigidez progresiva en las articulaciones y en la columna vertebral, además de osificaciones de partes blandas, muchas veces asociada con traumatismos; un rasgo importante fue la desviación en Hallux Valgus de los primeros dedos de ambos pies, presente desde su nacimiento; por medio de radiografías se demostró la presencia de osificaciones heterotópicas. COMENTARIOS: el diagnóstico de esta enfermedad es factible de realizarse con recursos disponibles en la Atención Primaria de Salud ya que se basa fundamentalmente en criterios clínicos. Actualmente no existe cura para esta enfermedad, pero es posible limitar el desarrollo de nuevas calcificaciones, y así como mitigar el dolor que causan las reagudizaciones de la enfermedad, mejorando la calidad de vida de los pacientes, utilizando para ello altas dosis de corticoides y antiinflamatorios no esteroideos, disponibles en el primer nivel de atención.
Subject(s)
Child , Female , Humans , Myositis Ossificans/diagnosis , Primary Health CareABSTRACT
La fibrodisplasia osificante progresiva es una rara entidad genética caracterizada por la proliferación de tejido fibrótico y con tendencia a la calcificación que afecta los tejidos blandos del organismo, principalmente tras traumatismos, incluso mínimos. La anquilosis articular y la insuficiencia respiratoria restrictiva pueden observarse en los casos más extremos de la enfermedad. Dada su rareza, el diagnóstico suele ser tardío y, en muchas ocasiones, acciones iatrogénicas, como la toma de biopsias, empeoran el cuadro clínico. Existen pocos informes mundiales de niños en los cuales se diagnostique la enfermedad en el período neonatal. El presente caso hace referencia a un niño nacido de una madre con fibrodisplasia osificante progresiva con estigmas de la enfermedad al nacimiento. La presencia de hallux bilaterales inusualmente grandes y deformes, acompañados generalmente de un cuello corto y rígido, pueden orientar al diagnóstico.
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.
Subject(s)
Humans , Infant, Newborn , Male , Myositis Ossificans , Myositis Ossificans/diagnosisABSTRACT
Presentamos el caso de un paciente de 78años con antecedentes de fractura de pierna derecha a los 40 años de edad, que consulta por dolor, aumento de volumen y temperatura en esa extremidad, sin fiebre ni compromiso del estado general. El estudio radiográfico evidencia imagen tumoral radiolúcida heterogénea con calcificaciones heterotópicas de la musculatura adyacente a tibia y peroné. Se inicia empíricamente tratamiento con colchicina, con mejoría parcial pero escasa adherencia al tratamiento. Se solicita biopsia de la lesión, la cual confirma la presencia de un hematoma antiguo con depósito de calcio y tejido cartilaginoso parcialmente calcificado, concordante con Miositis Osificante Circunscrita (MOC) y descarta malignidad. La MOC es una patología poco frecuente, correspondiente al 0,7 por ciento de los tumores de partes blandas. Puede ser ocasionada porcualquier traumatismo en partes blandas, es más frecuente en el sexo masculino y afecta principalmente musculatura estriada. Se presenta con dolor, aumento de volumen, impotencia funcional e incluso, a veces, fiebre. El diagnóstico imagenológico comienza con la radiografía simple, siendo la tomografía computada el examen de elección. son de utilidad diagnóstica la ecografía, la cintigrafía ósea y la resonancia nuclear magnética. el tratamiento inicial comprende reposo, elevación, compresión y aplicación de hielo en la zona afectada. se han descrito resultados en prevención de MOC con indometacina o bisfosfonatos (etidronato o pamidronato). La radioterapia y el tratamiento quirúrgico también han demostrado ser útiles.
We report the case of a 78 years old man with the antecedent 40 years age, of a right leg's fracture, who complains of pain, swelling and local warming in this limb without fever or systemic symptoms. The study radiographic shows tumoral radiolucent image with heterogeneous heterotopic ossification of muscles adjacent to the tibia and fibula. Treatment in initiated empirically with colchicine, with partial improvement, but poor adherence to treatment. We request a biopsy of the lesion, which confirms the presence of an old hematoma with calcium deposits and partially calcified cartilage characteristic of Myositis Ossificans Circumscripta (MOC) and rule out malignancy. The MOC is an uncommon condition, corresponding to 0.7 percent of soft tissue tumors. It can be caused by any soft tissue trauma, is more often in males and mainly affects striated muscle. Is characterized by pain, swelling, functional disability and sometimes even fever. The imaging diagnosis begins with plain radiography but computed tomography remains the gold standard. Ultrasound, bone scintigraphy and magnetic resonance imaging are useful. Initial treatment includes rest, elevation, compression and applying ice to the affected area. Results in the prevention of MOC have been reported with indomethacin or bisphosphonates (etidronate or pamidronate). Radiation and surgery have also proved useful.
Subject(s)
Humans , Male , Aged , Myositis Ossificans/diagnosis , Myositis Ossificans/therapy , Diagnostic Imaging , Myositis Ossificans/etiology , Myositis Ossificans/physiopathology , Ossification, HeterotopicABSTRACT
Trigger point injection is a simple procedure that is widely performed for relieving pain. Even though there are several complications of trigger point injection, myositis ossificans has not been documented as one of its complications. We treated a patient who suffered from painful limitation of elbow motion and this was caused by myositis ossificans between the insertions of brachialis and supinator muscles after a trigger point injection containing lidocaine mixed with saline, and we also review the relevant medical literature.
Subject(s)
Adult , Humans , Male , Elbow/surgery , Injections, Intralesional/adverse effects , Lidocaine/adverse effects , Magnetic Resonance Imaging , Myofascial Pain Syndromes/drug therapy , Myositis Ossificans/diagnosis , Range of Motion, ArticularABSTRACT
Myositis ossificans [MO] is a condition in which heterotopic bone formation occurs in the skeletal muscles and most commonly seen following trauma. Occurrence of this disease at the site of iliac crest bone graft harvest is unusual and only one case has been reported so far in the literature. We report a 27 years old patient with a history of iliac bone graft harvest four years ago. He presented with a localized bone mass and chronic pain around his right ilium at the site of previous bone graft removal two years back. The bone mass was excised surgically. The patient remained symptom free and no radiographic evidence of recurrence was observed 12 months post surgery. This complication can add to the morbidity of the operation for which the bone graft is taken from the iliac crest
Subject(s)
Humans , Male , Myositis Ossificans/etiology , Myositis Ossificans/diagnosis , Pelvic BonesABSTRACT
There are 28 unequivocal reports of heterotopic mesenteric ossification (HMO) in the medical literature. Most cases are poorly defined lesions in intra-abdominal structures that cause intestinal obstruction. A small well-delineated solid mass was reported in only one patient with no previous history of trauma. We report herein the case of a 67 year-old female patient with calcified mass in the left adnexal region. The awareness of HMO may avoid an erroneous diagnosis of extraskeletal osteosarcoma. This case differs from most cases of HMO as it is the third one reported in females and does not present a diffuse involvement, which leads to obstructive symptoms.
A literatura médica apresenta 28 relatos inequívocos de ossificação mesentérica heterotópica (OMH). A maioria apresenta-se como lesões mal definidas em estruturas intra-abdominais causando obstrução intestinal. Em apenas um caso a lesão apresentava-se como uma pequena massa bem delimitada, num paciente sem histórico de trauma. Apresentamos o caso de uma paciente de 67 anos com massa calcificada em topografia anexial esquerda. O conhecimento da entidade OMH previne eventual diagnóstico errôneo de osteossarcoma extraesquelético. Esse caso difere da maioria dos casos de OMH visto que é apenas o terceiro relatado no sexo feminino, e não apresentava envolvimento difuso levando aos sintomas obstrutivos.
Subject(s)
Humans , Female , Aged , Myositis Ossificans/diagnosis , Myositis Ossificans/pathology , Soft Tissue Neoplasms/diagnosis , Ossification, Heterotopic/diagnosis , Ossification, Heterotopic/pathology , Diagnosis, Differential , Diagnostic Errors , Diagnostic ImagingABSTRACT
La miositis osificante postraumática circunscripta es un proceso proliferativo benigno en el cual la formación metaplásica ocurre en tejido no óseo. No es una enfermedad inflamatoria, por lo que es más apropiado llamarla osificación heterotópica. Reportamos un caso de osificación heterotópica en el músculo gastrocnemio, como complicación de una contusión con edema y hematoma.
Subject(s)
Humans , Male , Adult , Metaplasia , Myositis Ossificans/diagnosis , Myositis Ossificans , Muscle, Skeletal/injuries , Ossification, Heterotopic/diagnosis , Ossification, HeterotopicABSTRACT
Fibrodysplasia ossificans progressiva (FOP; OMIM 135100) is a rare but extremely disabling genetic disorder of the skeletal system, and is characterized by the progressive development of ectopic ossification of skeletal muscles and subsequent joint ankylosis. The c.617G>A; p.R206H point mutation in the activin A type I receptor (ACVR1) gene has been reported to be a causative mutation of FOP. In the present study, mutation analysis of the ACVR1 gene was performed in 12 patients diagnosed or suspected to have FOP. All patients tested had a de novo heterozygous point mutation of c.617G>A; p.R206H in ACVR1. Mutation analysis confirmed a diagnosis of FOP in patients with ambiguous features, and thus, could be used for diagnostic purposes. Early confirmation through mutation analysis would allow medical professionals to advise on the avoidance of provoking events to delay catastrophic flare-ups of ectopic ossifications.
Subject(s)
Adolescent , Adult , Child , Female , Humans , Male , Young Adult , Activin Receptors, Type I/genetics , Asian People/genetics , Base Sequence , Genetic Predisposition to Disease , Heterozygote , Korea , Myositis Ossificans/diagnosis , Point MutationABSTRACT
Fibrodysplasia ossificans progressiva (FOP; OMIM 135100) is a rare but extremely disabling genetic disorder of the skeletal system, and is characterized by the progressive development of ectopic ossification of skeletal muscles and subsequent joint ankylosis. The c.617G>A; p.R206H point mutation in the activin A type I receptor (ACVR1) gene has been reported to be a causative mutation of FOP. In the present study, mutation analysis of the ACVR1 gene was performed in 12 patients diagnosed or suspected to have FOP. All patients tested had a de novo heterozygous point mutation of c.617G>A; p.R206H in ACVR1. Mutation analysis confirmed a diagnosis of FOP in patients with ambiguous features, and thus, could be used for diagnostic purposes. Early confirmation through mutation analysis would allow medical professionals to advise on the avoidance of provoking events to delay catastrophic flare-ups of ectopic ossifications.
Subject(s)
Adolescent , Adult , Child , Female , Humans , Male , Young Adult , Activin Receptors, Type I/genetics , Asian People/genetics , Base Sequence , Genetic Predisposition to Disease , Heterozygote , Korea , Myositis Ossificans/diagnosis , Point MutationABSTRACT
Calcification in the muscles designated in the term of [myositis ossificans] constitutes special group. This case report represent a rare case of snake bite at the leg of old female patient which is complicated later on with discharging sinus at the site of the bite with excursion of whitish pieces resembling sequestrated bone piece. The X-ray film showed extensive subcutaneous calcification with intact bones. Calcification in the soft tissue secondary to snake bite should be kept in mind in studying any soft tissue calcification due to any cause
Subject(s)
Humans , Female , Myositis Ossificans/etiology , Myositis Ossificans/diagnosisABSTRACT
La miositis osificante circunscrita postraumßtica es un proceso proliferativo, benigno, en el que ocurre formación metaplásica de hueso en un tejido no óseo. Se realizó la presentación de un caso con diagnóstico de miositis osificante en la región de la cadera, como complicación de un desgarro muscular. Se realizó una revisión actualizada del tema y de los métodos de diagnóstico de esta afección.
Postraumatic circumscriptus myositis ossificans is a proliferative benign process in which metaplastic formation occurs in non-osseous tissue. A case diagnosed with myositis ossificans in the hip as a complication of a muscular tear was presented. An updated literature review on this topic and the corresponding diagnosing methods was made.
La myosite ossifiante localisée post-traumatique est un processus prolifératif bénin, caractérisé par la métaplasie d'un tissu non-osseux en tissu osseux. La présentation d'un cas diagnostiqué de myosite ossifiante au niveau de la hanche, secondaire à une déchirure musculaire, est réalisée. Une revue actualisée sur cette anomalie, notamment les méthodes diagnostiques de cette condition, a été réalisée.
Subject(s)
Humans , Metaplasia , Myositis Ossificans/complications , Myositis Ossificans/diagnosis , Myositis Ossificans/drug therapyABSTRACT
Se revisa el tema de fibrodisplasia osificante progresiva (FOP), que es una enfermedad autosómica dominante infrecuente a propósito de un caso pediátrico. El cuadro debuta como aumento de volumen transitorio y fluctuante en extremidades superiores y es estudiado con diversas imágenes radiológicas e isotópicas. Se discute la patogenia, presentación clínica y terapia así como la utilidad relativa de las diferentes técnicas diagnósticas en la caracterización de la enfermedad.
Subject(s)
Humans , Female , Child , Myositis Ossificans/diagnosis , Myositis Ossificans/therapy , Tomography, X-Ray Computed , Adrenal Cortex Hormones/therapeutic use , Edema/etiology , Bone and Bones , Radiography, Thoracic , Recurrence , Treatment OutcomeABSTRACT
A 2-year-old boy presented with low-grade fever and multiple progressive painful swellings over upper dorsal trunk and supraclavicular region with progressive stiffening of skin for the last 2 months. Examination revealed dysmorphic face, proximally placed thumb and bilateral hallux valgus. Hence, a diagnosis of Fibrodysplasia Ossificans Progressiva was entertained.
Subject(s)
Fever , Hallux/abnormalities , Humans , Infant , Male , Myositis Ossificans/diagnosis , PainABSTRACT
Fibrodysplasia ossificans progressiva (FOP) is a rare deforming disease, affecting the skeleton and is associated with progressive endochondral ossification of the striated muscles. Swelling of the soft parts is rare and can be the initial manifestation. We report three patients where initial swelling preceded the ossification.
Subject(s)
Child , Child, Preschool , Female , Humans , Male , Myositis Ossificans/diagnosisABSTRACT
Osteochondromas are common and typically arise from the metaphyseal ends of long bones. An osteochondral neoplasm of the soft tissue, which is a lesion of uncertain pathogenesis, is uncommon and usually arises from the synovial tissue in joints and tendon sheaths. Rarely, extraskeletal osteochondromas also arise outside of synovial compartments. Most of the reported cases were presented in the hands and feet, especially in the fingers. Here we describe a 44-yr-old female patient who presented with a pain in the left buttock. A well-defined osseous mass was detected in the buttock. It consisted of sharply demarcated, mature hyaline cartilage that was covered with a fibrous capsule, which changed gradually into cancellous bone, more pronouncedly at the center. The diagnosis of an extraskeletal osteochondroma should be considered when a discrete, ossified mass is localized in the soft tissues. A case of pathologically proven extraskeletal osteochondroma of the buttock is presented with a literature review, magnetic resonance imaging, and radiological findings.