ABSTRACT
Fibrodysplasia ossificans progressiva(FOP) is a rare congenital disease characterized by progressive heterotopic ossification, causing severe immobility with multi-system involvement. The relatively low incidence rate and incomplete knowledge among clinicians of the disease often result in misuse of invasive procedures or surgical treatment, leading to the progression of heterotopic ossification. To promote the knowledge of FOP, this article presents a comprehensive review involving epidemiology, pathological mechanisms, clinical features, diagnosis, and management of the FOP.
ABSTRACT
Fibrodysplasia ossificans progressiva (FOP) is an exceptionally atypical genetic disorder characterized by heterotopic bone formation within skeletal muscles, ligaments, tendons, and other connective tissues that affects one in 2 million people. A 4-year-old girl with FOP was referred to our practice with complaints of pain and discomfort in both sides of the lower jaw. Clinical examination revealed deep multiple caries and buccal gingival abscess in relation to multiple teeth. Endodontic care and conservative dental procedures were planned and performed chairside after a detailed discussion with FOP medical and dental experts. Very brief dental appointments were conducted with breaks to prevent muscle fatigue. No usage of regional anesthesia or dental dam clamps was done. The patient and her parents were counseled for oral hygiene maintenance, and periodic topical fluoride treatments were performed during successive follow-up appointments. The child is followed for 34 months post-treatment. The dental treatment modifications implemented for the present case were enough to institute good oral health and to prevent the creation of heterotopic ossifications in the maxillofacial region.
ABSTRACT
Resumen: El síndrome de Mazabraud fue descrito inicialmente en 1926 por Henschen, consiste en la asociación entre fibrodisplasia ósea y uno o más mixomas intramusculares. El documento de estudio realizado por Mazabraud y colaboradores en 1967 describió una asociación entre las dos patologías. Literatura posterior se refirió a esta relación con el epónimo antes descrito. En este reporte, presentamos el caso de una mujer de 43 años, con diagnóstico conocido de fibrodisplasia ósea y posterior desarrollo de una masa en fosa antecubital derecha, la cual fue confirmada histológicamente como mixoma intramuscular. Después de la extracción de la tumoración, se revisó la literatura para encontrar una posible relación entre mixomas y displasia ósea fibrosa, encontrando positiva la asociación, denominada en los documentos revisados como síndrome de Mazabraud.
Abstract: Mazabraud syndrome was first described in 1926 by Henschen, consisting of the association between bone fibrodysplasia and one or more intramuscular myxomas. The study paper conducted by Mazabraud et al. in 1967, described an association between the two pathologies. Later literature referred to this relationship with the eponym described above. In this report, we present the case of a 43-year-old female patient with a known diagnosis of bone fibrodysplasia and subsequent development of a right antecubital fossa mass, which was histologically confirmed as intramuscular myxoma. After the removal of the tumor, the literature was reviewed to find a possible relationship between myxomas and fibrous bone dysplasia, finding positive the association, referred to in the documents reviewed as Mazabraud syndrome.
ABSTRACT
RESUMEN La fibrodisplasia osificante progresiva (FOP) es una enfermedad del tejido conectivo de etiología desconocida, de herencia autosómica dominante que se caracteriza por calcificaciones progresivas de las fascias, aponeurosis, ligamentos, tendones y tejido conectivo intersticial del músculo esquelético. Su prevalencia es de 1:2.000.000. Presenta desde el nacimiento morfología anormal del primer metatarsiano. Las osificaciones heterotópicas por lo común se hacen evidentes recién alrededor de los 5 años, posteriores a un trauma en los tejidos blandos. El compromiso funcional es progresivo y altamente incapacitante. Presentamos el caso de un niño de 6 años quien desde el año de edad inició las lesiones en las zonas de traumatismos, al comienzo acompañadas de dolor y signos inflamatorios que luego se petrificaban. Presentaba hállux valgus corto bilateral y se pudo corroborar la presencia de la misma malformación en un tío materno.
ABSTRACT Progressive ossifying fibrodysplasia (POF) is a connective tissue disease of unknown etiology, of autosomal dominant inheritance characterized by progressive calcifications of fasciae, aponeurosis, ligaments, tendons, and interstitial connective tissue of skeletal muscle. Its prevalence is 1: 2,000,000. Abnormal morphology of the first metatarsal is present at birth. Heterotopic ossifications usually become apparent only about 5 years after a soft tissue trauma. The functional compromise is progressive and highly disabling. We present the case of a 6-year-old boy who, beginning at one year of age, developed the lesiones in injured areas, with subsequent petrification, initially accompanied by pain and inflammatory signs. He presented bilateral short hallux valgus and we corroborated the presence of the same malformation in a maternal uncle.
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
Resumen Presentamos 2 casos con diagnóstico de fibrodisplasia osificante progresiva (FOP) en el Hospital de Especialidades "Eugenio Espejo". La FOP es una enfermedad rara de transmisión autosómica dominante. En la mayoría de pacientes se debe a una mutación nueva en familias no afectadas previamente. Se caracteriza por osificación heterotópica progresiva del tejido conectivo, aponeurosis, fascia, ligamentos, tendones y músculo esquelético. El diagnóstico precoz mejora el pronóstico y la calidad de vida.
Abstract. We report two cases with diagnosis of progressive ossifying fibrodysplasia (FOP) at the "Eugenio Espejo" Specialty Hospital. The FOP is a rare autosomal dominant disease. In most of the patients is due to a mutation in families not affected previously. It's characterized by progressive ossification of connective tissue, aponeurosis, fascia, ligaments, tendons and skeletal muscle. The early diagnosis improves the prognosis and the quality of life.
ABSTRACT
Fibrodysplasia ossificans progressiva is a rare genetic disease characterized by widespread soft tissue ossification and congenital stigmata of the extremities. We report a male patient who had bilateral hallux valgus since birth. Other noticed anomalies included multiple swellings over the back, stiffness of lower back area, multiple joints, restricting movement of spine, shoulders, elbows, and right hip and right knee. Patient was not able to bend forward, squat or turn head to either side. Patient also had multiple foci of ossification developed over left knee, and back region. All swellings and restrictions were painless.
ABSTRACT
Fibrodysplasia ossificans progressiva(FOP) is a rare debilitating genetic disorder characterized by malformation of the great toes during embryonic skeletal development as well as progressive heterotopic ossification postnatally. There is no known definite treatment. Here presented a review of the recent advances in the potential FOP therapies.
ABSTRACT
Fibrodysplasia Ossificans Progressiva (FOP) is an inherited disease in which progressive ossification of striated muscles, tendons, ligaments and other connective tissues forming bridges of extra bones across the joints leads to severe disability and there are associated characteristic congenital skeletal malformations. FOP is also known as Stoneman's syndrome. The case we report here is a 23-year-old male with the clinical and radiologic characteristics of FOP.
ABSTRACT
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
Fibrodysplasia ossificans progressive (FOP) is an extremely rare disabling disorder characterized by progressive heterotopic ossification associated with congenital digital malformations. The purpose of this study is to delineate the problems in diagnosis and treatment of this rare disease, and to present their solutions. Nine Korean FOP patients have been followed up for average 7.2 years. Their medical records and radiographs were reviewed, and they were reexamined directly or interviewed by telephone. There were 6 female and 3 male patients. The age at the time of this study averaged 13.3 years (range, 4 to 23). In 5 cases, the first clinical manifestation was migrating scalp and neck mass at the age of 1-2 years. The diagnosis was delayed for 3 year and 5 months at average although all the patients had pathognomonic big toe anomaly. Surgical excision of heterotopic ossification in an attempt to increase the joint motion was performed in 4 cases but in vain. Posterior spinal fusion in 1 case failed to prevent progression of scoliosis and trunk decompensation. Disodium etidronate, tried in 3 patients, brought no effective symptom relief. All the patients in their 20's were household ambulators. Understanding the clinical manifestation of this disease enables early diagnosis, by which unnecessary and harmful procedures such as surgical biopsy or excision can be avoided, although no effective treatment has been developed.