Resumen
Fibrodysplasia Ossificans Progressiva (FOP) is a rare, complex, autosomal dominant inherited disease caused by a heterozygous mutation of the ACVR1 gene on chromosome 2q24 (OMIM 135100), with a prevalence of 1 in 2 million worldwide. It is characterized by progressive heterotopic ossifications involving skeletal muscle, fasciae, tendons and ligaments. Diagnosis is based on clinical history and soft tissue injuries, with imaging studies supporting the identification of such ossifications. It is confirmed by DNA analysis of the ACVR1 gene via sequencing. Currently there is no definitive and curative therapy. The aim of this article is to present a clinical case of a 3-year-old girl with the clinical and radiological diagnosis of FOP.
Citas
Akyuz, G., Gencer-Atalay, K., Ata, P. Fibrodysplasia ossificans progressiva. Current Opinion in Pediatrics, 2019, 31(6), 716–722. https://doi.org/10.1097/mop.0000000000000802
Akesson, L. S., & Savarirayan, R. Fibrodysplasia Ossificans Progressiva. Adam, M.P., Mirzaa, G.M., Pagon R.A., et al., GeneReviews®, University of Washington, Seattle. 2020. https://www.ncbi.nlm.nih.gov/books/NBK1116
Bauer, A. H., Bonham, J., Gutierrez, L., Hsiao, E. C., & Motamedi, D. Fibrodysplasia ossificans progressiva: a current review of imaging findings. Skeletal radiology, 2018, 47(8), 1043–1050. https://doi.org/10.1007/s00256-018-2889-5
Carvalho, D., Navarro, M., Martins, B., Coelho, K., Mello, W., Takata, R., & Speck-Martins, C. Mutational screening ofACVR1gene in Brazilian fibrodysplasia ossificans progressiva patients. Clinical Genetics, 2010, 77(2), 171–176. doi:10.1111/j.1399-0004.2009.01256.x
De Brasi, D., Orlando, F., Gaeta, V., De Liso, M., Acquaviva, F., Martemucci, L., Mastrominico, A., & Di Rocco, M. Fibrodysplasia Ossificans Progressiva: A Challenging Diagnosis. Genes, 2021, 12(8), 1187. https://doi.org/10.3390/genes12081187
Eekhoff, E. M. W., de Ruiter, R. D., Smilde, B. J., Schoenmaker, T., de Vries, T. J., Netelenbos, C., Hsiao, E. C., Scott, C., Haga, N., Grunwald, Z., De Cunto, C. L., di Rocco, M., Delai, P. L. R., Diecidue, R. J., Madhuri, V., Cho, T. J., Morhart, R., Friedman, C. S., Zasloff, M., Pals, G., Micha, D., et. al. Gene Therapy for Fibrodysplasia Ossificans Progressiva: Feasibility and Obstacles. Human gene therapy, 2022, 33(15-16), 782–788. https://doi.org/10.1089/hum.2022.023
Elamin, M., Almutasim Ibrahim, A., & Omer, A. Fibrodisplasia Osificante Progresiva: Reporte De Cuatro Casos. Cureus, 2022, 14 (3), e23392. https://doi.org/10.7759/cureus.23392
Kaplan, FS, Chakkalakal, SA & Shore, EM. Fibrodisplasia osificante progresiva: mecanismos y modelos de metamorfosis esquelética. Modelos y mecanismos de enfermedad, 2012, 5 (6), 756–762. https://doi.org/10.1242/dmm.010280
Kaplan, F. S., Al Mukaddam, M., & Pignolo, R. J. Longitudinal patient-reported mobility assessment in fibrodysplasia ossificans progressiva (FOP). Bone, 2018, 109, 158–161. https://doi.org/10.1016/j.bone.2017.06.005
Pignolo, R. J., Shore, E. M., & Kaplan, F. S. Fibrodysplasia ossificans progressiva: clinical and genetic aspects. Orphanet journal of rare diseases, 2011, 6, 80. https://doi.org/10.1186/1750-1172-6-80
Pignolo, R. J., Baujat, G., Brown, M. A., De Cunto, C., Di Rocco, M., Hsiao, E. C., Keen, R., Al Mukaddam, M., Sang, K. L. Q., Wilson, A., White, B., Grogan, D. R., & Kaplan, F. S. Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes. Orphanet journal of rare diseases, 2019, 14(1), 98. https://doi.org/10.1186/s13023-019-1068-7
Smilde, B. J., Botman, E., de Ruiter, R. D., Smit, J. M., Teunissen, B. P., Lubbers, W. D., Schwarte, L. A., Schober, P., & Eekhoff, E. M. W. Monitoring and Management of Fibrodysplasia Ossificans Progressiva: Current Perspectives. Orthopedic research and reviews, 2022, 14, 113–120. https://doi.org/10.2147/ORR.S337491
Towler, OW & Shore, EM Señalización de BMP y desarrollo esquelético en fibrodisplasia osificante progresiva (FOP). Dinámica del desarrollo: una publicación oficial de la Asociación Estadounidense de Anatomistas, 2022, 251 (1), 164–177. https://doi.org/10.1002/dvdy.387
Valer, Sánchez-de-Diego, Pimenta-Lopes, Rosa & Ventura. Función ACVR1 en Salud y Enfermedad. Cells, 2019, 8 (11), 1366. MDPI AG. http://dx.doi.org/10.3390/cells8111366
Yang, Y. S., Kim, J. M., Xie, J., Chaugule, S., Lin, C., Ma, H., Hsiao, E., Hong, J., Chun, H., Shore, E. M., Kaplan, F. S., Gao, G., & Shim, J. H. Suppression of heterotopic ossification in fibrodysplasia ossificans progressiva using AAV gene delivery. Nature communications, 2022, 13(1), 6175. https://doi.org/10.1038/s41467-022-33956-9
Meyers, C., Lisiecki, J., Miller, S., Levin, A., Fayad, L., Ding, C., Sono, T., McCarthy, E., Levi, B., & James, A. W. Heterotopic Ossification: A Comprehensive Review. JBMR plus, 2019, 3(4), e10172. https://doi.org/10.1002/jbm4.10172
Copyright
License
Copyright (c) 2023 Marcela Elizabeth Orozco Orozco, Anna Yurrita Pocasangre, María Antonieta Sandoval Vargas y Julio Rafael Cabrera Valverde
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
Authors who publish in this journal agree to the following terms:
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution-NonCommercial-ShareAlike License 4.0 (CC BY-NC_SA 4.0) that indicates: a) It is allowed that others share the work, with an acknowledgement of the work's authorship and initial publication in this journal, b) The work may not be used for commercial purposes, c) If it's remixed, transformed, or built upon the material, one must distribute the contributions under the same license as the original
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository, website or publish it in a book), with an acknowledgement of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.
