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Related Experiment Video

Updated: May 5, 2026

Author Spotlight: Exploring Orofacial Muscle Regeneration – Insights and Innovations
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FOP: still turning into stone.

Reza Taslimi1, Saba Jafarpour, Nahid Hassanpour

  • 1Imam Khomeini Hospital, Tehran University of Medical Sciences, Pour-Sina St., Keshavarz Blvd., Tehran, Iran.

Clinical Rheumatology
|November 21, 2013
PubMed
Summary

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder causing bone to form in soft tissues. Delayed diagnosis and iatrogenic harm can lead to severe disability, as tragically illustrated by this case.

Area of Science:

  • Genetics
  • Orthopedics
  • Rare Diseases

Background:

  • Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by heterotopic ossification.
  • It affects approximately 1 in 2 million people globally, with mutations in the ACVR1/ALK2 gene being a common cause.
  • Individuals with FOP typically present with malformed great toes at birth and develop painful soft tissue swellings (flare-ups) in early childhood.

Observation:

  • The case highlights a 39-year-old patient with undiagnosed FOP, emphasizing the high rate of misdiagnosis.
  • The patient suffered from repetitive iatrogenic harm due to a lack of clinical awareness of FOP's classic signs.
  • This lack of awareness led to progressive heterotopic ossification, severely limiting the patient's mobility.

Findings:

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  • FOP involves endochondral ossification, where soft tissues like muscles and tendons are replaced by bone.
  • This process results in joint fixation and progressive loss of motion, often leading to wheelchair confinement by the third decade of life.
  • Misdiagnosis frequently occurs because clinicians fail to recognize the combination of soft tissue swellings and characteristic great toe malformations.

    • Implications:

    • Increased clinical awareness and prompt diagnosis of FOP are crucial to prevent iatrogenic harm and improve patient outcomes.
    • Early identification allows for appropriate management strategies to mitigate the progression of heterotopic ossification.
    • Further research into FOP pathogenesis and treatment is needed to address this catastrophic genetic condition.