Background: Proteus syndrome (PS) is a complex genetic disorder, characterized by the sporadic appearance of hamartomatous lesions that follow a mosaic pattern and have a progressive evolution. It affects most of the mesodermal origin tissues, including the bones. Scoliosis is a common manifestation, with great variability and specific peculiarities, but little about it has been published.
Case description: Presentation of 2 clinical cases of patients with PS that underwent scoliosis surgery and literature review. Two patients aged 17 years, a girl (patient 1) and a boy (patient 2), both diagnosed with PS, were being followed-up for scoliosis. Patient 1 had a right thoracic curve with a Cobb angle of 69.1°, whereas patient 2 also had a right thoracic curve of 106.8°. In both patients a posterior fusion was performed, associating rib and ponte osteotomies at the level of the apex in patient 2. A minimum 2-year follow-up was done. Both patients had a satisfactory evolution without neurologic or other complications, with a high degree of correction of their curves (Cobb angle 29.2° and 55.6°, respectively). Their total SRS-22 (Scoliosis Research Society Outcomes Questionnaire) score at the last visit was 4.77 and 4.64, respectively.
Conclusions: Both PS and scoliosis are conditions associated with deformities and physical limitations that decrease the health-related quality of life of these patients. Because of the severity of the spinal deformities and their risk of progression, early diagnosis and prompt treatment is recommended. Despite being highly complex, scoliosis surgery allows a satisfactory deformity correction and consequently improves the health-related quality of life of patients with PS.
Keywords: Proteus syndrome; Scoliosis; Spinal fusion; Spine/surgery.
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