{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T19:00:37Z","timestamp":1768244437081,"version":"3.49.0"},"reference-count":11,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,12,22]]},"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>Fibrodysplasia ossificans progressiva (FOP), also known as Munchmeyer disease or \u2018stone man syndrome\u2019, is a rare, disabling genetic disorder caused by an ACVR1\/ALK2 mutation, resulting in progressive heterotopic ossification of muscles, tendons and ligaments. Even minor trauma can trigger flare-ups, causing joint fusion and severe disability.<\/jats:p>\n                  <jats:p>An early adolescent male presented with progressive joint stiffness, painful swellings and malnutrition. Examination revealed hallmark signs of FOP, including malformed great toes and widespread soft tissue ossification. Differential diagnoses such as progressive osseous heteroplasia and juvenile fibromatosis were excluded clinically. A biopsy was avoided due to the risk of disease exacerbation, and the diagnosis was made on clinical grounds.<\/jats:p>\n                  <jats:p>As no definitive cure exists, management was supportive with non-steroidal anti-inflammatory drugs for pain, nutritional supplementation and avoidance of surgery. Awareness and early recognition are crucial, while emerging therapies, such as palovarotene and gene-targeted approaches, hold promise for the future.<\/jats:p>","DOI":"10.1136\/bcr-2025-268538","type":"journal-article","created":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T15:30:12Z","timestamp":1768231812000},"page":"e268538","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Progressive ossification in an adolescent with fibrodysplasia ossificans progressiva"],"prefix":"10.1136","volume":"19","author":[{"given":"Shivani","family":"Sidana","sequence":"first","affiliation":[{"name":"Endocrinology, All India Institute of Medical Sciences Bathinda, Bathinda, Punjab, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sugandha","family":"Prakash","sequence":"additional","affiliation":[{"name":"Endocrinology, All India Institute of Medical Sciences Bathinda, Bathinda, Punjab, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tarun","family":"Goyal","sequence":"additional","affiliation":[{"name":"Orthopedics, All India Institute of Medical Sciences, Bathinda, Punjab, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7962-8463","authenticated-orcid":false,"given":"Harmeet","family":"Kaur","sequence":"additional","affiliation":[{"name":"Radiodiagnosis, All India Institute of Medical Sciences Bathinda, Bathinda, Punjab, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2026,1,12]]},"reference":[{"key":"2026011207300660000_19.1.e268538.1","doi-asserted-by":"crossref","first-page":"1039","DOI":"10.1007\/s12015-020-10103-9","article-title":"ActivinA Induced SMAD1\/5 Signaling in an iPSC Derived EC Model of Fibrodysplasia Ossificans Progressiva (FOP) Can Be Rescued by the Drug Candidate Saracatinib","volume":"17","author":"Hildebrandt","year":"2021","journal-title":"Stem Cell Rev and Rep"},{"key":"2026011207300660000_19.1.e268538.2","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-023-02561-8"},{"key":"2026011207300660000_19.1.e268538.3","first-page":"RD01","article-title":"Clinical and Genetic Analysis of Fibrodysplasia Ossificans Progressiva: A Case Report and Literature Review","volume":"9","author":"Lakkireddy","year":"2015","journal-title":"J Clin Diagn Res"},{"key":"2026011207300660000_19.1.e268538.4","doi-asserted-by":"crossref","DOI":"10.1093\/jbmrpl\/ziaf150","article-title":"Medical guidelines for fibrodysplasia ossificans progressiva","volume":"9","author":"Kaplan","year":"2025","journal-title":"JBMR Plus"},{"key":"2026011207300660000_19.1.e268538.5","article-title":"Fibrodysplasia Ossificans Progressiva: A Report of Four Cases","volume":"14","author":"Elamin","year":"2022","journal-title":"Cureus"},{"key":"2026011207300660000_19.1.e268538.6","doi-asserted-by":"crossref","DOI":"10.1002\/jbm4.10172","article-title":"Heterotopic Ossification: A Comprehensive Review","volume":"3","author":"Meyers","year":"2019","journal-title":"JBMR Plus"},{"key":"2026011207300660000_19.1.e268538.7","doi-asserted-by":"publisher","DOI":"10.1172\/JCI31330"},{"key":"2026011207300660000_19.1.e268538.8","doi-asserted-by":"publisher","DOI":"10.1038\/ng1358"},{"key":"2026011207300660000_19.1.e268538.9","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1007\/s13318-023-00856-2","article-title":"The Pharmacokinetic Profile of Palovarotene: An Open-Label Phase I Trial Investigating the Effect of Food and Potential for Drug-Drug Interaction in Healthy Participants","volume":"48","author":"Marino","year":"2023","journal-title":"Eur J Drug Metab Pharmacokinet"},{"key":"2026011207300660000_19.1.e268538.10","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.4762"},{"key":"2026011207300660000_19.1.e268538.11","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2017.08.023"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-268538","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T15:30:13Z","timestamp":1768231813000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-268538"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":11,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,1,12]]},"published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1136\/bcr-2025-268538"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-268538","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]}}}