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Fibrodysplasia ossificans progressiva (FOP): watch the great toes!

European Journal of Pediatrics volume 169, pages 1417–1421 (2010)Cite this article

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder and the most disabling condition of heterotopic (extraskeletal) ossification in humans. Extraskeletal bone formation associated with inflammation preceding the osseous conversion usually begins in the first decade, predominantly in the head, neck, and shoulders. All patients have malformed great toes. Most patients have a spontaneous mutation of the ACVR1 gene. We report a 17-year-old girl with malformed great toes who had her first episode of heterotopic ossification and impaired mobility of the left hip at the age of 13 years. No inflammatory fibroproliferative masses preceded the onset of heterotopic ossification. Radiographic studies demonstrated myositis ossificans, but failure to associate the great toe malformation with heterotopic ossification led to a failure to diagnose FOP. She underwent repeated and unnecessary operative procedures to remove a recurrent lesion. FOP was finally suspected when the great toe malformation was correlated with the trauma-induced heterotopic ossification. Genetic analysis confirmed the presence of the classic FOP mutation (ACVR1 c.617G>A; R206H). This case highlights the importance of examining the great toes in anyone with heterotopic ossification. The association of malformations of the great toe with heterotopic ossification in all cases of classic FOP will lead to prompt clinical diagnosis and the prevention of iatrogenic harm.

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Author information

Affiliations

  1. Department of Pediatrics and Adolescent Medicine, University Hospital, Freiburg, Germany

    Mutlu Kartal-Kaess & Rudolf Korinthenberg

  2. Departments of Orthopaedic Surgery and Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA

    Eileen M. Shore & Meiqi Xu

  3. Departments of Orthopaedic Surgery and Traumatology, University Hospital Freiburg, Freiburg, Germany

    Ludwig Schwering

  4. Department of Radiology, St. Josefskrankenhaus, Freiburg, Germany

    Markus Uhl

  5. Departments of Orthopaedic Surgery and Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, USA

    Frederick S. Kaplan

  6. Department of Pediatric Hematology & Oncology, University Hospital, Freiburg, Germany

    Mutlu Kartal-Kaess & Charlotte Niemeyer

  7. Department of Pediatric Hematology & Oncology, University Hospital Schleswig-Holstein, Campus Luebeck, Luebeck, Germany

    Melchior Lauten

Authors
  1. Mutlu Kartal-Kaess
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  2. Eileen M. Shore
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  3. Meiqi Xu
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  4. Ludwig Schwering
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  5. Markus Uhl
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  6. Rudolf Korinthenberg
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  7. Charlotte Niemeyer
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  8. Frederick S. Kaplan
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  9. Melchior Lauten
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Correspondence to Mutlu Kartal-Kaess.

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Kartal-Kaess, M., Shore, E.M., Xu, M. et al. Fibrodysplasia ossificans progressiva (FOP): watch the great toes!. Eur J Pediatr 169, 1417–1421 (2010). https://doi.org/10.1007/s00431-010-1232-5

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  • DOI: https://doi.org/10.1007/s00431-010-1232-5

Keywords

  • Fibrodysplasia ossificans progressiva (FOP)
  • Heterotopic ossification
  • ACVR1
  • ALK2