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Fibrodysplasia ossificans progressiva 

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  1. Open Access 01.12.2024 | OriginalPaper

    Successful preimplantation genetic testing for fibrodysplasia ossificans progressiva: a case report

    Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant condition that leads to significant disability and morbidity, characterised by the formation of heterotopic hard tissues within connective tissues [ 1 , 2 ]. The disorder is …

  2. Open Access 01.12.2023 | OriginalPaper

    Disease aggravation following surgery in a rare patient suspected to Fibrodysplasia (Myositis) ossificans progressiva: a case report

    Fibrodysplasia ossificans progressiva (FOP), as a rare, heritable and severely disabling genetic condition of connective tissue and progressive heterotopic ossification (HO), is the most catastrophic disorder of HO and a cause of extraskeletal …

  3. Open Access 01.12.2023 | OriginalPaper

    Study methodology and insights from the palovarotene clinical development program in fibrodysplasia ossificans progressiva

    Conducting clinical trials in rare diseases presents several challenges including small numbers of eligible participants, limited ability to conduct subsequent trials, heterogeneity across patient groups, understudied disease evolution, and a lack …

  4. Open Access 20.08.2023 | Fibrodysplasia ossificans progressiva | Online First

    Fibrodysplasia ossificans progressiva – wenn sich plötzlich Knochen im Muskel bilden

    Verkrümmte oder verkürzte Großzehen scheinen nicht besorgniserregend. Wenn jedoch beulenartige Weichteilschwellungen hinzukommen, kann dies Hinweis auf die sehr seltene Erkrankung Fibrodysplasia ossificans progressiva sein. Daran sollte unbedingt gedacht werden, Fehldiagnosen können nämlich schwerwiegende Folgen haben.

  5. 25.07.2023 | EditorialNotes

    Fibrodysplasia ossificans progressiva: when a double skeleton is present

    A 57-year-old female patient was referred to the Rheumatology Department due to progressive stiffness and limited mobility of the cervical and lumbar spine, followed by the shoulder, elbow, and hip joints. These complaints started in childhood and …

  6. Open Access 01.12.2023 | OriginalPaper

    Successful experience of tofacitinib treatment in patients with Fibrodysplasia Ossificans Progressiva

    Fibrodysplasia ossificans progressive (FOP) is an ultra-rare genetic disorder that is caused by a mutation in the ACVR1 gene and provokes severe heterotopic ossification. Since flares of the disease are associated with inflammation, it is assumed …

  7. 12.09.2023 | Online First

    Faces of Fibrodysplasia Ossificans Progressiva: Lessons from a Clinical Masquerader

    Fibrodysplasia ossificans progressiva (FOP) /Myositis ossificans (OMIM: 135100) is a rare autosomal dominant fully penetrant debilitating disorder of the extraskeletal connective tissue. The estimated prevalence is 1/1 300 000 to 1/2 000 000 [ 1 ].

  8. Open Access 01.12.2023 | OriginalPaper

    The serum levels of activin A and bone morphogenetic protein-4 and -6 in patients with fibrodysplasia ossificans progressiva

    Fibrodysplasia ossificans progressiva (FOP) is an ultrarare and disabling genetic disorder of connective tissue that is characterized by congenital malformation of the great toes and progressive endochondral heterotopic ossification (HO) in soft …

  9. Open Access 01.12.2023 | Letter

    A follow-up report on the published paper Social and clinical impact of COVID-19 on patients with fibrodysplasia ossificans progressiva

    Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder associated with increased immune activity and severe, progressive heterotopic ossification. We previously described a cohort of 32 patients with FOP who were either exposed to …

  10. Open Access 01.12.2022 | Letter

    Fibrodysplasia ossificans progressiva in Brazil: challenges and strategies to create assistance and educational networks

    Fibrodysplasia ossificans progressiva (FOP) is an ultrarare condition and one of the most impactful disorders associated with progressive heterotopic ossification events. It is estimated that there are 120–150 patients in Brazil; however …

  11. 28.03.2022 | EditorialNotes

    Fibrodysplasia (myositis) ossificans progressiva (FOP)

    Fibrodysplasia ossificans progressiva (FOP) — formerly named “Myositis Ossificans Progressiva” — is a rare disorder of mesodermal tissue. FOP constitutes one of the most disabling congenital skeletal anomalies, characterized by progressive …

  12. Open Access 01.12.2022 | COVID-19 | OriginalPaper

    Social and clinical impact of COVID-19 on patients with fibrodysplasia ossificans progressiva

    Coronaviruses (CoVs) are a class of enveloped, single-stranded RNA viruses found globally in humans [ 1 ]. While coronavirus infections in humans are typically mild, several previous coronavirus outbreaks have been associated with significant …

  13. Open Access 01.12.2022 | ReviewPaper

    Current challenges and opportunities in the care of patients with fibrodysplasia ossificans progressiva (FOP): an international, multi-stakeholder perspective

    Fibrodysplasia ossificans progressiva (FOP; OMIM #135100) is an ultra-rare, disabling genetic disorder characterized by congenital malformations of the great toes and progressive heterotopic ossification (HO) of soft and connective tissues [ 1 ].

  14. Open Access 01.12.2022 | OriginalPaper

    Protocol paper: a multi-center, double-blinded, randomized, 6-month, placebo-controlled study followed by 12-month open label extension to evaluate the safety and efficacy of Saracatinib in Fibrodysplasia Ossificans Progressiva (STOPFOP)

    Rare diseases are defined in Europe as disease with a prevalence of less than 1 in 2000. There are more than 7000 rare diseases, cumulatively affecting the lives of an estimated 3.5–5.9% of the global population [ 1 ]. Together, rare diseases …

  15. Open Access 16.04.2022 | OriginalPaper

    “I Can’t Take off My Shirt or Do My Own Hair”—A Qualitative Investigation of the Symptoms and Impact Experience of Children and Adolescents with Fibrodysplasia Ossificans Progressiva (FOP)

    With an estimated global prevalence of less than one birth per million[ 1 , 2 ], fibrodysplasia ossificans progressiva (FOP) is an ultra-rare, severely disabling, autosomal dominant, congenital disease characterized by progressive multi-focal …

  16. Open Access 31.07.2021 | OriginalPaper

    Whole-body Computed Tomography Versus Dual Energy X‑ray Absorptiometry for Assessing Heterotopic Ossification in Fibrodysplasia Ossificans Progressiva

    Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder that leads to heterotopic ossification (HO), resulting in progressive restriction of physical function. In this study, low-dose, whole-body computed tomography (WBCT) …

  17. Open Access 01.12.2021 | OriginalPaper

    Prevalence of fibrodysplasia ossificans progressiva (FOP) in the United States: estimate from three treatment centers and a patient organization

    Fibrodysplasia ossificans progressiva (FOP; OMIM #135100) is an ultra-rare, progressive, and permanently disabling disorder of extraskeletal ossification. FOP is characterized by episodic flare-ups and irreversible heterotopic ossification (HO) in …

  18. 14.04.2021 | ReviewPaper

    Do Interactions of Vitamin D3 and BMP Signaling Hold Implications in the Pathogenesis of Fibrodysplasia Ossificans Progressiva?

    Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disease characterized by uncontrolled episodic endochondral heterotopic ossification (HO) in skeletal muscles and connective tissues [ 1 , 2 ]. These episodes, termed “flares,” involve …

  19. Open Access 10.06.2021 | COVID-19 | ReviewPaper

    Post-COVID-19 exacerbation of fibrodysplasia ossificans progressiva with multiple flare-ups and extensive heterotopic ossification in a 45-year-old female patient

    Fibrodyplasia ossificans progressiva (FOP) is a rare hereditary disease, which has a variable course characterized by occasional flare-ups of heterotopic ossification (HO) in soft tissues that are followed by swelling, stiffness, pain and warmth.

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