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Case Reports
. 2014 Feb 3:2014:bcr2013201541.
doi: 10.1136/bcr-2013-201541.

The elephant man syndrome

Richard Pullicino  1 , Reuben Grech
Affiliations
Case Reports

The elephant man syndrome

Richard Pullicino et al. BMJ Case Rep. .
No abstract available

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Figures

Figure 1
Figure 1
Axial CT images demonstrating osseous expansion with medullary ground glass change in the body of the left mandible (arrow—A). Radiological differential diagnosis includes polyostotic fibrous dysplasia. Hyperostosis is seen to affect the entire occipital bone, the left petrous apex (arrow—B) and the left infraorbital margin. Reconstructed images (C and D) revealing asymmetrical osseous overgrowth resulting in characteristic craniofacial abnormalities.
See this image and copyright information in PMC

References

    1. Lindhurst MJ, Sapp JC, Teer JK, et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 2011;365:611–19 - PMC - PubMed
    1. Jamis-Dow CA, Turner J, Biesecker LG, et al. Radiologic manifestations of proteus syndrome. Radiographics 2004;24:1051–68 - PubMed
    1. Biesecker L. The challenges of Proteus syndrome: diagnosis and management. Eur J Hum Genet 2006;14:1151–7 - PubMed

Publication types