ArticleRheumatology international2012
Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies.
Article in Rheumatology international, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 13 citations in OpenAlex.
- Challenges in the treatment of fibrodysplasia ossificans progressiva.Rheumatology international · 2019Review
- A Case of Progressive Ossifying Fibrodysplasia of Tracheobronchial Respiratory Muscles.Case reports in radiology · 2019Article
- Role of osteoclasts in heterotopic ossification enhanced by fibrodysplasia ossificans progressiva-related activin-like kinase 2 mutation in mice.Journal of bone and mineral metabolism · 2016Article
- Fibrodysplasia ossificans progressiva-related activated activin-like kinase signaling enhances osteoclast formation during heterotopic ossification in muscle tissues.The Journal of biological chemistry · 2014Article
- Is fibrodysplasia ossificans progressiva ever seen without skeletal abnormalities?Rheumatology international · 2012Article
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1 author at 1 institution in 1 country.
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Abstract
Fibrodysplasia ossificans progressiva (FOP) is a rare but extremely disabling genetic disease of the skeletal system. This disease is characterized by progression of heterotopic ossification within skeletal muscles, ligaments and tendons. Most patients with FOP are misdiagnosed early in life before the appearance of heterotopic ossification and undergo diagnostic procedures such as biopsy that can cause lifelong disability. Almost all of the patients have some peculiar congenital anomalies, including short great toes, hallux valgus, short thumbs and hypoplasia of digital phalanges. These congenital defects support the diagnosis of FOP, but are not constantly observed in the totality of patients. If necessary, genetic studies can be performed to confirm the diagnosis. Once diagnosed, patients should be advised in order to avoid unnecessary traumas, surgical procedures, biopsies, intramuscular injections and vaccinations. Here, we describe a patient with FOP without characteristic congenital skeletal anomalies.
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