A Rare Case of Disproportionate Overgrowth – Proteus Syndrome

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BSTRACT

Proteus syndrome is an exceptionally rare congenital disorder characterized by progressive, asymmetric overgrowth of bones, skin, and other tissues, resulting from a somatic mosaic mutation in the AKT1 gene, and manifests with a spectrum of clinical features, including limb and skull overgrowth, skin lesions, and vascular malformations. This case report details the management of a 6-year-old female with Proteus syndrome, presenting with significant overgrowth of the right foot’s toes, leading to functional impairments such as difficulty walking and weight-bearing. Initial evaluations, including physical examination and X-ray imaging, confirmed asymmetric toe overgrowth and thickened cortical bone, with no malignancy detected. The management plan involved a multidisciplinary approach with surgical intervention, including amputation of the affected toes and debulking of surrounding soft tissue. Postoperative care focused on improving mobility through physical therapy and the use of a custom prosthetic device. The patient demonstrated significant improvement in walking ability and quality of life at 2-month follow-up. This case underscores the complexities of managing Proteus syndrome due to its rare and variable presentation. Surgical intervention, while addressing immediate functional limitations, must be complemented by ongoing palliative care and vigilant monitoring for potential complications such as deep venous thrombosis and tumor development. As understanding of Proteus syndrome evolves, targeted therapies may offer future treatment options, but current management remains focused on a combination of surgical and supportive care.