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image of Combined Axial and Peripheral Melorheostosis in a Young Boy: A Unique Case

Abstract

Background

Axial melorheostosis is a rare clinical condition with only a few cases identified worldwide. The combination of axial and peripheral melorheostosis has not reported before, to the best of our knowledge.

Case Presentation

Here, we present a case of a 9-year-old boy, who was referred with pain and swelling over the medial upper right leg with slight limping of insidious onset over a 3-month period. In addition, there was discomfort and irregular patchy skin lesions over the lower back. On examination, a tender swelling with irregular borders was felt over the right upper tibia. A diagnosis of axial and peripheral melorheostosis was confirmed by radiological imaging. A single dose of intravenous zolendronic acid (0.05 mg/kg) was administered. The patient showed significant improvement of symptoms within 2 months of treatment, with complete alleviation of symptoms after 6 months.

Conclusion

Axial and peripheral melorheostosis can present together; however, peripheral lesions may adequately respond to zolendronic acid treatment.

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2025-03-10
2025-04-18
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References

  1. Ruggiero M. Conforti A. Culcasi A. Mazzanti C. Sibahi G. Rani N. Sartini S. A focus on melorheostosis disease: A literature review and case report of femoral-acetabular impingement due to melorheostosis treated with surgical hip osteoplasty. Reumatismo 2024 76 1 10.4081/reumatismo.2024.1621 38523583
    [Google Scholar]
  2. Leong A.W.S. Langdon J. Malhotra V. Mandalia U. A case of spinal melorheostosis. Cosmoderma 2022 12 8 10.25259/JCIS_202_2021 35251764
    [Google Scholar]
  3. Bayya N. Fairfax A. Dey C. Butela S. Mihlon F. Axial melorheostosis: A rare presentation. Radiol. Case Rep. 2020 15 11 2415 2417 10.1016/j.radcr.2020.09.028 32994853
    [Google Scholar]
  4. Hurley-Novatny A.C. Allbritton-King J.D. Jha S. Cowen E.W. Colbert R.A. Navid F. Bhattacharyya T. Fibroblasts from patients with melorheostosis promote angiogenesis in healthy endothelial cells through secreted factors. J. Invest. Dermatol. 2022 142 9 2406 2414.e5 10.1016/j.jid.2022.02.006 35189151
    [Google Scholar]
  5. Allbritton-King J.D. Maity J. Patel A. Colbert R.A. Navid F. Bhattacharyya T. VEGF secretion drives bone formation in classical MAP2K1+ melorheostosis. J. Bone Miner. Res. 2023 38 12 1834 1845 10.1002/jbmr.4915 37737377
    [Google Scholar]
  6. Ahrens H. Theil C. Gosheger G. Mühl S. Deventer N. Schneider K.N. Melorheostosis of the fossa intercondylaris femoris – A case report and review of the literature. J. Orthop. Case Rep. 2021 11 4 45 47 10.13107/jocr.2021.v11.i04.2146 34327164
    [Google Scholar]
  7. Farrell K. Comis L.E. Casimir M.M. Hodsdon B. Jiménez-Silva R. Dunigan T. Bhattacharyya T. Jha S. Occupational engagement, fatigue, and upper and lower extremity abilities in persons with melorheostosis. PM R 2023 15 5 587 595 10.1002/pmrj.12817 35403375
    [Google Scholar]
  8. Hurley-Novatny A. Karantanas A.H. Papadakis G.Z. Bhattacharyya T. Jha S. Cross‐sectional imaging useful in melorheostosis. JBMR Plus 2021 5 4 e10472 10.1002/jbm4.10472 33869990
    [Google Scholar]
  9. Wordsworth P. Chan M. Melorheostosis and osteopoikilosis: A review of clinical features and pathogenesis. Calcif. Tissue Int. 2019 104 5 530 543 10.1007/s00223‑019‑00543‑y 30989250
    [Google Scholar]
  10. Laliotis N.A. Konstandinidis P. Chrysanthou C.K. Papadopoulou L. Melorheostosis in an adolescent with limb length discrepancy and management with epiphysiodesis with eight plates. J. Orthop. Case Rep. 2019 9 5 7 10 10.13107/jocr.2019.v09.i05.1508 32547993
    [Google Scholar]
  11. Salaria A.K. Singh G. Dogra E. Kumar N. Sodavarapu P. Neradi D. A highly unusual clinical presentation and imaging appearance of a rare diseases: Melorheostosis. J. Orthop. Case Rep. 2020 10 6 72 75 10.13107/jocr.2020.v10.i06.1882 33489974
    [Google Scholar]
  12. Kim J. Cho S.B. Cho S. Bang D. Unilateral nevoid telangiectasia associated with ipsilateral melorheostosis. Ann. Dermatol. 2012 24 2 206 208 10.5021/ad.2012.24.2.206 22577274
    [Google Scholar]
  13. Saxena A. Neelakantan A. Jampana R. Sangra M. Melorheostosis causing lumbar radiculopathy: a case report and a review of the literature. Spine J. 2013 13 8 e27 e29 10.1016/j.spinee.2013.02.039 23541445
    [Google Scholar]
  14. Chai T. Shroff G.S. Poster 442 intractable pelvic pain due to melorheostosis managed with spinal cord stimulation: A case report. PM R 2016 8 9S S305 10.1016/j.pmrj.2016.07.366 27673191
    [Google Scholar]
  15. Renjith K.R. Shetty A.P. Kanna P R.M. Rajasekaran S. Spinal melorheostosis: A rare cause for thoracic radiculopathy. Int. J. Spine Surg. 2020 14 2 209 212 10.14444/7027 32355627
    [Google Scholar]
  16. Dhanokar K.V. Pushpa B.T. Shetty A.P. Rajasekaran S. Spinal melorheostosis associated with intradural fibrous band and extensive lipomatosis causing thoracic cord tethering and myelomalacia: A unique case highlighting importance of MRI in management. Ind. J. Radiol. Imag. 2022 32 3 411 415 10.1055/s‑0042‑1748883 36177288
    [Google Scholar]
  17. McDermott M. Branstetter B.F. IV Seethala R.R. Craniofacial melorheostosis. J. Comput. Assist. Tomogr. 2008 32 5 825 827 10.1097/RCT.0b013e3181572998 18830120
    [Google Scholar]
  18. Touraine S. Parlier-Cuau C. Bousson V. Sverzut J.M. Genah I. Petrover D. Laredo J.D. Tibial hyperostosis: A diagnostic approach. Eur. J. Radiol. 2013 82 12 2286 2295 10.1016/j.ejrad.2013.08.015 24041433
    [Google Scholar]
  19. Al Kaissi A. Skoumal M. Roetzer K. Grill F. Klaushofer K. A patient with Melorheostosis manifesting with features similar to tricho-dento-osseous syndrome: A case report. J. Med. Case Rep. 2008 2 1 51 10.1186/1752‑1947‑2‑51 18284671
    [Google Scholar]
  20. Iordache S. Cursaru A. Serban B. Costache M. Spiridonica R. Cretu B. Cirstoiu C. Melorheostosis: A review of the literature and a case report. Medicina (Kaunas) 2023 59 5 869 10.3390/medicina59050869 37241101
    [Google Scholar]
  21. Hollick R.J. Black A. Reid D. Melorheostosis and its treatment with intravenous zoledronic acid. BMJ. Case Rep. 2010 2010 1757 10.1136/bcr.04.2009.1757 22479293
    [Google Scholar]
  22. Slimani S. Nezzar A. Makhloufi H. Successful treatment of pain in melorheostosis with zoledronate, with improvement on bone scintigraphy. BMJ Case Rep. 2013 2013 bcr2013009820 10.1136/bcr‑2013‑009820 23813581
    [Google Scholar]
  23. Kumar S. Jain V.K. Prabhakar R. Melorheostosis of upper limb: A report of four rare cases. J. Clin. Orthop. Trauma 2020 11 2 321 323 10.1016/j.jcot.2019.06.009 32099304
    [Google Scholar]
  24. Sathish M. Girinivasan C. Srinivasacholan C. Gowtham P. Bisphosphonate therapy in the management of symptomatic melorheostosis of Tibia. J. Orthop. Case Rep. 2021 11 9 103 106 10.13107/jocr.2021.v11.i09.2436 35415166
    [Google Scholar]
  25. Lokesh M. Lokesh M. Suriya Kumar S. Gadde S. Dripping wax bone disease – melorheostosis – a rare case scenario. J. Orthop. Case Rep. 2020 10 9 94 97 10.13107/jocr.2020.v10.i09.1918 34169026
    [Google Scholar]
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  • Article Type:
    Case Report
Keywords: hyperostosis ; zolendronic acid ; Melorheostosis
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