Orthopaedic manifestations of Proteus syndrome in a child with literature update

• We presented the musculoskeletal manifestations of Proteus syndrome (PS) in a child.
• The rarity of PS and the variability of signs make the diagnosis challenging.
• There tends to be a characteristic pattern of skeletal abnormalities in patients with PS.
• The clinical utility of reported cases is dependent on valid diagnostic criteria.
• Inadequate clinical data in reported cases are likely to lead to misdiagnosis

BackgroundProteus syndrome is a rare developmental disorder of unknown aetiology. It is a disorder characterized by postnatal overgrowth affecting multiple tissues. Proteus syndrome is most frequently manifested in skeletal changes. As manifestations of Proteus syndrome are highly variable, and many are found in other overgrowth syndromes, and due to inconsistent application of diagnostic criteria, the literature has more reports of patients misdiagnosed than correctly diagnosed. The purpose of this study is to report the clinical and radiographic patterns of affection of the musculoskeletal system in Proteus syndrome in the light of the proposed diagnostic criteria and cases reported in the literature.MethodsThe clinical and radiographic musculoskeletal characteristics of a child with Proteus syndrome are illustrated along with a literature update. The orthopaedic manifestations in our patient are correlated to cases and proposed diagnostic criteria reported in the literature.ResultsThe study of the presented case and review of available literature show that there tends to be a highly characteristic pattern of skeletal abnormalities in Proteus syndrome.ConclusionThe rarity of Proteus syndrome and the variability of signs make the diagnosis challenging. Clinical and radiographic examinations are important contributors to the diagnosis. The clinical utility of the reported cases is significantly dependent on consistent application of diagnostic criteria that augment diagnostic accuracy.The present case reinforces the need for supplementary musculoskeletal imaging modalities to be implemented in the diagnosis of Proteus syndrome.

Figure optionsDownload as PowerPoint slide