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
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
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.