Heterotopic Ossification in Fibrodysplasia Ossificans Progressiva

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7-year-old girl presented with hard, painful lumps over her neck, back, and thighs, which had gradually developed and progressively worsened over the past few years. There was no significant history of trauma. Physical examination revealed smooth, mobile, bony-hard masses, which did not arise from the skeleton. She also had significant neck stiffness, clinodactyly, and hallux valgus (Figure, A). Radiographs revealed prominent ossification of the ligamentum nuchae, fusion of the posterior elements of

cervical spine (Figure, B), and a band-like angular area of heterotopic ossification (HO) over the left lower hemithorax and thoracic spine, consistent with the site of the lesions on neck and back (Figure, C). Biochemical evaluations of bone mineral metabolism were normal. These pathognomonic lesions suggested the diagnosis of fibrodysplasia ossificans progressiva (FOP), which was later confirmed by genetic analysis. FOP is a rare genetic connective tissue disease characterized by congenital malformations of the great toes and progressive HO of muscle and connective tissue.1 The disease causing mutation is highly specific and localized to the ACVR1 gene.2 HO in FOP usually begins in the first decade of life and is often precipitated by soft tissue injury, intramuscular injections, muscular stretching, or viral infections, and results in debilitating pain and permanent disability. No definite treatment for FOP exists; however, high dose steroids during acute exacerbations may be helpful.1 Despite the distinct constellation of classic clinical features, almost 90% of FOP patients are misdiagnosed as malignancy.3 About two-thirds of them undergo diagnostic procedures like biopsies, which lead to posttraumatic ossification and permanent loss of mobility.3 Pediatricians need to be vigilant in any child presenting with soft tissue swellings who has malformed great toes, so that correct diagnosis may be made promptly and iatrogenic harm avoided. n Akshay Sharma, MBBS Miriam Behar, MD Department of Pediatrics University of Kentucky College of Medicine Lexington, Kentucky

References

Figure. A, Images and radiographs of hands and feet showing clinodactyly and hallux valgus deformities. B, Neck radiograph. Arrows mark the ossification of ligamentum nuchae and fusion of posterior elements of cervical spine. C, Abdominal radiograph showing heterotopic ossification over left hemithorax and thoracic spine.

J Pediatr 2015;166:204. 0022-3476/$ - see front matter. Copyright ª 2015 Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.jpeds.2014.09.046

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1. Kaplan FS, Xu M, Glaser DL, Collins F, Connor M, Kitterman J, et al. Early diagnosis of fibrodysplasia ossificans progressiva. Pediatrics 2008;121: e1295-300. 2. Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho TJ, Choi IH, et al. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet 2006;38:525-7. 3. Kitterman JA, Kantanie S, Rocke DM, Kaplan FS. Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva. Pediatrics 2005;116:e654-61.

Heterotopic ossification in fibrodysplasia ossificans progressiva.

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