Dysplastic Foot with Soft-Tissue Hypertrophy: Radiographic Features Suggestive of Proteus Syndrome
DOI:
https://doi.org/10.7577/radopen.6396Emneord (Nøkkelord):
Proteus syndrome, congenital dysplastic foot, localized overgrowth, AKT1 mutationSammendrag
Introduction: Proteus syndrome is a rare, sporadic, and highly variable disorder characterized by asymmetric and disproportionate overgrowth of multiple tissues, including bone, skin, and adipose tissue. The condition results from somatic mosaic activating mutations in the AKT1 gene and may pose challenges due to its overlap in presentation with other congenital overgrowth syndromes.
Case presentation: This case report is of a 22-year-old female with a congenital, progressively enlarging deformity of the right foot and ankle. Radiographic evaluation revealed severe dysplastic changes involving metatarsals, phalanges, and tarsal bones with massive soft tissue hypertrophy but without aggressive or neoplastic features, suggesting the diagnosis of a localized overgrowth disorder consistent with Proteus syndrome.
Discussion: Asymmetrical patchy skeletal overgrowth with soft tissue hypertrophy in the absence of vascular malformations should raise the suspicion of Proteus syndrome during imaging. Among the overgrowth disorders, Proteus syndrome needs to be differentiated from Klippel-Trénaunay syndrome, neurofibromatosis type 1, and tuberous sclerosis complex. While radiographic findings are highly suggestive, they are not diagnostic, and genetic confirmation of the AKT1 mutation remains the gold standard.
Conclusion: Radiography is essential to identifying the specific features of the congenital overgrowth disorders and guiding a differential diagnosis. Recognition of characteristic imaging patterns can lead to early suspicion of Proteus syndrome and appropriate referral for genetic testing and multidisciplinary management of patients.
Referanser
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