Fibrodisplasia osificante progresiva plus por una variante patogénica del gen ACVR1: Caso clínico
| Autor: | Carola Goecke-Hochberger, Cecilia Mellado-Sagredo, Daniela Avila-Smirnow, Rosendo Lobo-Avilés, Hana Karime Rumié-Carmi, Oscar Contreras-Olea |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Thorax
medicine.medical_specialty medicine.diagnostic_test Ossification business.industry Leukomalacia Periventricular Genetic Diseases Inborn Soft tissue Physical examination General Medicine Myositis ossificans medicine.disease Dermatology Solitary Kidney Myositis Ossificans Fibrodysplasia ossificans progressiva medicine Heterotopic ossification medicine.symptom business Renal agenesis |
| Zdroj: | Revista médica de Chile v.147 n.3 2019 SciELO Chile CONICYT Chile instacron:CONICYT |
| ISSN: | 0034-9887 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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