Surgical management strategies and clinical outcomes of cutaneous skeletal hypophosphatemia syndrome: a case series

Objective: To evaluate the surgical treatment strategies and clinical efficacy in patients with cutaneous skeletal hypophosphatemia syndrome (CSHS). Methods: A retrospective analysis was conducted on three cases of CSHS treated at our institution. Clinical data included medical history, physical examination, laboratory tests (hypophosphatemia-related biomarkers and genetic testing), and imaging studies (x-ray and CT). Pre- and postoperative limb deformity correction and functional recovery were assessed. Results: All three patients presented with multiple skeletal deformities and cutaneous melanocytic nevi. Laboratory tests confirmed persistent hypophosphatemia, while imaging revealed widespread osseous abnormalities and long-bone bowing deformities. Following corrective osteotomy with internal fixation, significant improvement in mechanical alignment was achieved. Conclusions: Surgical intervention can effectively correct limb deformities, restore biomechanical alignment, and improve function in patients with CSHS. Hence, it represents a critical component of multidisciplinary management.