39. Loạn sản sợi xương tiến triển: Báo cáo ca bệnh và đối chiếu y văn

Abstract

Progressive Fibrodysplasia Ossificans (FOP) is a rare autosomal dominant genetic disorder that gradually causes ossification of muscles, tendons, ligaments, and other fibrous tissues. The disease begins in early childhood, leading to limb and trunk deformities. Surgical interventions can trigger ossification and should be contraindicated. We report a case of a 3.5-year-old boy treate at the National Children's Hospital. The child presented with tumors in the nape and lumbar region, as well as abdominal swelling without fever or signs of significant inflammation. Both great toes were abnormally short and inwardly curved. After tumor excision, the surgical site developed fibrosis with a firm scar. Blood tests, including hematology, biochemistry, calcium, and vitamin D, were normal. X-rays revealed spinal scoliosis and abnormal bone growth. Histopathological examination showed fatty tissue, collagen bundles, fibroblasts, and multiple ossified areas. Genetic analysis identified a pathogenic heterozygous dominant variant in ACVR1: c.617G>A (p.Arg206His). FOP diagnosis is based on clinical features, particularly great toe malformations, and genetic analysis. Invasive procedures should be avoided to prevent ossification activation.