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Medical condition
Fibrodysplasia ossificans progressiva
Other names
Stone man disease, Münchmeyer disease
The effects of fibrodysplasia ossificans progressiva, a disease which causes damaged soft tissue to regrow as bone.(Skeleton of Harry Raymond Eastlack)
Specialty
Medical genetics, rheumatology
Symptoms
Continuous bone growth
Usual onset
Before age 10
Differential diagnosis
Fibrous dysplasia
Treatment
None
Prognosis
Median life expectancy ≈ 40 years old (if properly managed)
Frequency
801 confirmed cases worldwide (2017); incidence rate estimated to be 0.5 cases per million people (1 in 2 million)
Fibrodysplasia ossificans progressiva (/ˌfaɪbroʊdɪˈspleɪʒ(i)əɒˈsɪfɪkænzprəˈɡrɛsɪvə/;[1] abbr. FOP), also called Münchmeyer disease or formerly myositis ossificans progressiva, is an extremely rare connective tissue disease in which fibrous connective tissue such as muscle, tendons, and ligaments turn into bone tissue. It is the only known medical condition where one organ system changes into another.[2] It is a severe, disabling disorder with no cure.
FOP is caused by a mutation of the gene ACVR1. The mutation affects the body's repair mechanism, causing fibrous tissue including muscle, tendons, and ligaments to become ossified, either spontaneously or when damaged as the result of trauma. In many cases, otherwise minor injuries can cause joints to become permanently fused as new bone forms, replacing the damaged muscle tissue. This new bone formation (known as "heterotopic ossification") eventually forms a secondary skeleton and progressively restricts the patient's ability to move. Bone formed as a result of this process is identical to "normal" bone, simply in improper locations. Circumstantial evidence suggests that the disease can cause joint degradation separate from its characteristic bone growth.[3]
Surgical removal of the extra bone growth has been shown to cause the body to "repair" the affected area with additional bone. Although the rate of bone growth may differ depending on the patient, the condition ultimately leaves sufferers immobilized as new bone replaces musculature and fuses with the existing skeleton. This has earned FOP the nickname "stone man disease".[4]
^"Medical Definition of fibrodysplasia ossificans progressiva". www.merriam-webster.com. Retrieved 8 May 2022.
^Kaplan, Frederick S.; Shen, Qi; Lounev, Vitali; Seemann, Petra; Groppe, Jay; Katagiri, Takenobu; Pignolo, Robert J.; Shore, Eileen M. (2008). "Skeletal metamorphosis in fibrodysplasia ossificans progressiva (FOP)". Journal of Bone and Mineral Metabolism. 26 (6): 521–530. doi:10.1007/s00774-008-0879-8. PMC 3620015. PMID 18979151.
^Pinkowski, Jen (1 March 2019). "Here's what happens when your body tissues turn to bone". National Geographic. Archived from the original on 3 March 2019.
^Verma, Amit Kumar; Aga, Pallavi; Singh, Shailesh Kumar; Singh, Ragini (2012). "The stone man disease: fibrodysplasia ossificans progressiva: imaging revisited". BMJ Case Reports. 2012: bcr2012006422. doi:10.1136/bcr-2012-006422. PMC 4543882. PMID 22843760.
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Fibrodysplasiaossificansprogressiva (/ˌfaɪbroʊdɪˈspleɪʒ(i)ə ɒˈsɪfɪkænz prəˈɡrɛsɪvə/; abbr. FOP), also called Münchmeyer disease or formerly myositis...
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species Osteogenesis imperfecta, a juvenile bone disease Fibrodysplasiaossificansprogressiva, an extremely rare genetic disease which causes fibrous...
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trait: a longer hallux. People with the rare genetic disease fibrodysplasiaossificansprogressiva characteristically have a short hallux which appears to...
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(April 20, 1959 – February 2018) was an American woman with fibrodysplasiaossificansprogressiva (FOP). She advocated for research into FOP and was an activist...
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they run out of food. In the second round, he also has fibrodysplasiaossificansprogressiva, a connective tissue disease that renders him useless after...
gene are in progress, the ACVR1 gene has been connected to fibrodysplasiaossificansprogressiva, an extremely rare progressive genetic disease characterized...
maxilla and mandible, impairing the ability to speak and eat. Fibrodysplasiaossificansprogressiva is a rare bone disease in which muscle, tendons and ligaments...
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; Shore, Eileen M.; Kaplan, Frederick S. (2011-12-01). "Fibrodysplasiaossificansprogressiva: clinical and genetic aspects". Orphanet Journal of Rare...
The International FibrodysplasiaOssificansProgressiva Association (IFOPA) is a US-based 501(c)(3) non-profit organization supporting medical research...
mutation in the gene for the activin receptor ACVR1 results in fibrodysplasiaossificansprogressiva, a fatal disease that causes muscle and soft tissue to gradually...
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variety of bone diseases, including the heritable disorder FibrodysplasiaOssificansProgressiva. There is strong evidence from sequencing studies of candidate...
Department of Orthopedics discovered the causative mutation in fibrodysplasiaossificansprogressiva, an extremely rare disease of bone. Benchmark changes in...
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