E-ISSN 1858-8360 | ISSN 0256-4408
 

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Online Published: 10 Dec 2024
 


Clinico-radiological findings in Stoneman disease

Bibek Keshari, Bhumireddy Vijaya Madhuri, Khanak Nandolia, Sonal Saran.


Abstract
Myositis ossificans progressive/fibrodysplasia ossificans progressiva (FOP) or stone man disease, is a rare autosomal dominant connective tissue disorder characterized by progressive ectopic ossification of soft tissues. This disorder affects approximately one in two million individuals, with an autosomal dominant inheritance pattern. Most cases, however, occur sporadically within families. FOP manifests as gradual ossification of connective tissues and muscles, presenting with digital anomalies and additional features such as neck muscle edema, C2-C7 facet joint fusion, and enlarged vertebrae. We present the case of a 8-year-old boy with FOP, showcasing distinctive clinical and radiological features. The patient experienced a gradually hardening swelling and progressive limitation of movement along the back over six years. Clinical examination revealed bilateral hallux valgus with short great toes, and radiographic studies confirmed characteristic findings, including elongated ectopic osseous growths in the spine and deformities in the feet.
Diagnostic imaging, including plain radiographs and CT scans, plays a crucial role in confirming FOP and assessing its extent. Characteristic findings such as deformed great toes, ectopic calcifications, and osseous bridging are evident. Early detection through bone scans or MRI is crucial for timely intervention. However, biopsies are discouraged due to the risk of exacerbating ossification and potential confusion with malignancies.
Current therapeutic interventions are primarily supportive, as surgical procedures carry risks of trauma-induced ossification. Preventive measures, including lifestyle modifications and avoiding trauma, are key. Medications like bisphosphonates and corticosteroids may be considered during acute flare-ups, but research for definitive treatment is ongoing.
FOP poses significant challenges in diagnosis, management, and treatment due to its rarity and variable clinical course. Early recognition, thorough clinical assessments, and a proactive approach to prevention are crucial for enhancing the quality of life for individuals with FOP. Ongoing research aims to uncover more effective treatments, while support groups and patient education contribute to a comprehensive approach in addressing this complex disorder.

Key words: Myositis ossificans progressiva, Fibrodysplasia ossificans progressiva, Stone man disease, Autosomal dominant disorder, Ectopic ossification, Connective tissue disorder, Digital anomalies


 
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How to Cite this Article
Pubmed Style

Keshari B, Madhuri BV, Nandolia K, Saran S. Clinico-radiological findings in Stoneman disease. Sudan J Paed. Online First: 10 Dec, 2024. doi:10.24911/SJP.106-1708405947


Web Style

Keshari B, Madhuri BV, Nandolia K, Saran S. Clinico-radiological findings in Stoneman disease. https://sudanjp.com//?mno=191561 [Access: December 10, 2024]. doi:10.24911/SJP.106-1708405947


AMA (American Medical Association) Style

Keshari B, Madhuri BV, Nandolia K, Saran S. Clinico-radiological findings in Stoneman disease. Sudan J Paed. Online First: 10 Dec, 2024. doi:10.24911/SJP.106-1708405947



Vancouver/ICMJE Style

Keshari B, Madhuri BV, Nandolia K, Saran S. Clinico-radiological findings in Stoneman disease. Sudan J Paed, [cited December 10, 2024]; Online First: 10 Dec, 2024. doi:10.24911/SJP.106-1708405947



Harvard Style

Keshari, B., Madhuri, . B. V., Nandolia, . K. & Saran, . S. (2024) Clinico-radiological findings in Stoneman disease. Sudan J Paed, Online First: 10 Dec, 2024. doi:10.24911/SJP.106-1708405947



Turabian Style

Keshari, Bibek, Bhumireddy Vijaya Madhuri, Khanak Nandolia, and Sonal Saran. 2024. Clinico-radiological findings in Stoneman disease. Sudanese Journal of Paediatrics, Online First: 10 Dec, 2024. doi:10.24911/SJP.106-1708405947



Chicago Style

Keshari, Bibek, Bhumireddy Vijaya Madhuri, Khanak Nandolia, and Sonal Saran. "Clinico-radiological findings in Stoneman disease." Sudanese Journal of Paediatrics Online First: 10 Dec, 2024. doi:10.24911/SJP.106-1708405947



MLA (The Modern Language Association) Style

Keshari, Bibek, Bhumireddy Vijaya Madhuri, Khanak Nandolia, and Sonal Saran. "Clinico-radiological findings in Stoneman disease." Sudanese Journal of Paediatrics Online First: 10 Dec, 2024. Web. 10 Dec 2024 doi:10.24911/SJP.106-1708405947



APA (American Psychological Association) Style

Keshari, B., Madhuri, . B. V., Nandolia, . K. & Saran, . S. (2024) Clinico-radiological findings in Stoneman disease. Sudanese Journal of Paediatrics, Online First: 10 Dec, 2024. doi:10.24911/SJP.106-1708405947





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