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Bone malformations in Proteus syndrome: an analysis of bone structural changes and their evolution during growth

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Abstract

The radiographic follow-up of a patient with Proteus syndrome is presented. Review of radiographs obtained at 3 years 10 months, 10 years, and 17 years 8 months indicated that the rate of growth in length of the oversized tubular bones of the hands was similar to that of the normal bones of the same hand. This observation supports the view that the primary lesion occurs in the early embryonic period, when the limb bud mesenchyme cells condense and cartilage differentiates producing oversized cartilage anlages, rather than being a defect of bone cell-mediated apposition and modelling processes of bone. Additional radiographs of the pelvis and spine were obtained at age 4 years 10 months and head CT at 8 years 10 months. This pathogenetic mechanism fits well with the hypothesis of somatic mosaicism, which is at present the most credible explanation for the aetiology of Proteus syndrome. Other skeletal malformations recognized as typical of the syndrome can be interpreted as secondary adaptations to the altered mechanical conditions induced by overgrowth of bones.

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Acknowledgement

The authors are grateful to Prof. Roberto Burgio for making available the clinical files of the case he published in 1983 and for his useful suggestions during preparation of this paper.

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Authors and Affiliations

  1. Orthopaedic Clinic, University of Brescia Spedali Civili di Brescia, 25123, Brescia, Italy

    Ugo E. Pazzaglia, Giovanni Bonaspetti & Federico Ranchetti

  2. Pediatric Radiology Department, Fondazione I.R.C.C.S. Policlinico San Matteo, Pavia, Italy

    Giampiero Beluffi

Authors
  1. Ugo E. Pazzaglia
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  2. Giampiero Beluffi
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  3. Giovanni Bonaspetti
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  4. Federico Ranchetti
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Corresponding author

Correspondence to Giovanni Bonaspetti.

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Pazzaglia, U.E., Beluffi, G., Bonaspetti, G. et al. Bone malformations in Proteus syndrome: an analysis of bone structural changes and their evolution during growth. Pediatr Radiol 37, 829–835 (2007). https://doi.org/10.1007/s00247-007-0486-1

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  • DOI: https://doi.org/10.1007/s00247-007-0486-1

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