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 (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.
Subject(s)
Humans , Female , Child , Myositis Ossificans/diagnostic imaging , Prednisone/therapeutic use , Magnetic Resonance Imaging , Chile , Ossification, Heterotopic/genetics , Ossification, Heterotopic/drug therapy , Ossification, Heterotopic/diagnostic imaging , Anti-Inflammatory Agents/therapeutic use , Myositis Ossificans/genetics , Myositis Ossificans/drug therapySubject(s)
Humans , Male , Middle Aged , Ossification, Heterotopic/diagnostic imaging , Hip Injuries/diagnostic imaging , Ankylosis/diagnostic imaging , Signs and Symptoms , Wounds and Injuries/diagnostic imaging , Ossification, Heterotopic/complications , Ossification, Heterotopic/drug therapy , Ossification, Heterotopic/rehabilitation , Brain Injuries, Traumatic/diagnostic imaging , Musculoskeletal System/injuries , Myositis Ossificans/diagnostic imagingABSTRACT
Presentamos el caso de un hombre de 49 años con osificación parenquimatosa difusa del pulmón. Los hallazgos clínicos y radiológicos orientaron el diagnóstico hacia una enfermedad intersticial. La biopsia pulmonar a cielo abierto fue requerida para el diagnóstico. Ninguna de las entidades relacionadas conla osificación pulmonar fue encontrada en este paciente.