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1115 - Case study: Rehabilitative considerations for individuals with Proteus syndrome

Friday, February 28, 2025

5:00 PM - 6:30 PM MST

Presenting Author(s)

IL

Isabel Lam, DO

Resident Physician
Lakeland Regional Health
LAKELAND, Florida, United States
DK

Daniel Khokhar, DO

Resident Physician
Lakeland Regional Health
Lakeland, Florida, United States

Co-Author(s)

CT

Corey Thurman, MD

Resident Physician
Lakeland Regional Health
Lakeland, Florida, United States
AB

Anas Bizanti, MD

Attending Physician (IM Associate Program Director)
Lakeland Regional Health
Lakeland, Florida, United States

Case Diagnosis: Proteus syndrome (diagnosed as a child)

Case Description: A 28-year-old male with Proteus syndrome (manifesting as bilateral lower extremities and left hand digits overgrowth), scoliosis, DVT, and chronic lower extremity pain presented with persistent bleeding from left first toe and dorsal foot wounds. He had a history of recurrent infections and sepsis related to these wounds, requiring multiple interventions, including ICU admission. This admission, he required blood transfusions for uncontrolled bleeding despite extensive wound care. Amputation was considered, but complications such as poor healing, infection, and compartment syndrome were concerns. Interventional radiology was consulted for an arteriogram and embolization; however, due to the risk of necrosis and gangrene, the patient declined. Over the years, progressive overgrowth of his feet and contractures in his hips and knees severely limited his mobility. Aquatic therapy improved his endurance and mobility, enabling him to ambulate with a walker, though he eventually relied on a power wheelchair due to overgrowth and wound complications.

Discussions: Proteus syndrome, a rare, sporadic postnatal mosaic overgrowth disorder caused by AKT1 mutations, is characterized by asymmetric tissue overgrowth, vascular malformations, and increased DVT risk. Management is challenging due to variable manifestations. In this case, bilateral lower extremity overgrowth impaired ambulation, causing strength deficits and contractures. Aquatic therapy improved strength and range of motion, especially given the increased lower extremity weight and the patient’s inability to bear weight on his left leg due to knee pain. The progression of Proteus syndrome further limited mobility, increasing the risk of DVT and decubitus ulcers. Chronic pain is common, and pain management was essential for maintaining the patient’s daily activities and participation in physical therapy.

Conclusions: Proteus syndrome presents uniquely in each patient, requiring individualized management. In this case, aquatic therapy had positive rehabilitative effects.