ABSTRACT
BACKGROUND: Giant cell tumors of the bone (GCTB) are rare, benign, aggressive, recurrent tumors that are most often found at the ends of long bones. They account for 5% of all primary bone tumors and 20% of all benign bone tumors. The clinical features of GCTB include local swelling, pain, and limitations in joint movement. Approximately half of GCTB arise around the knee joint, affecting either the distal femur or proximal tibia. Tissue biopsy reveals an excess of multinucleated giant cells on a stromal cell background, indicating a diagnosis. Intralesional curettage is used to treat GCTB and is associated with minimal disability; however, local recurrence may occur in many patients. Resection and endoprosthetic repair or bone graft reconstruction are often used to treat GCTB near the joint. To our knowledge, there are currently no studies on this topic in the city of Jeddah, where we conducted our study. Our aim was to evaluate the outcome of surgical resection accompanied by denosumab injection compared to that of surgery alone in treating GCTB. METHODS: All cases of GCTB at King Abdulaziz Medical City, Jeddah, between January 2008 and December 2018, that fulfilled the inclusion and exclusion criteria were included. All cases of GCTB in the pre-specified period were classified as surgical resection with denosumab injection or surgical resection alone. The outcomes of the two modalities were compared. Recurrence was investigated in patients belonging to both the groups. RESULTS: Twenty-six cases that met the inclusion criteria were included in the study and the data were analyzed. The subjects were divided into two groups: denosumab and surgery (n = 7) and surgery alone (n = 19). Patients treated with denosumab and surgery had a higher recurrence rate (57%); however, the difference was not significant (p = 0.407). CONCLUSION: Our study showed that when comparing local recurrence after curettage in patients treated with denosumab and patients who did not receive it, preoperative denosumab therapy was associated with an increased incidence of local recurrence. We recommend a systematic review that can include more studies in this field to acquire more definitive results regarding this topic.
ABSTRACT
Rhizomelic chondrodysplasia punctata (RCDP) is a devastating medical condition for patients and their families. It is a rare peroxisomal autosomal recessive disorder. It was recognized clinically with skeletal abnormalities and intellectual disabilities mainly due to plasmalogen deficiency. Here, we report a case of a 16-day-old girl who was referred to King Abdulaziz Medical City Jeddah, Saudi Arabia because of dysmorphic features. Her growth parameters were below the 3rd centile with short proximal long bones and multiple joint contractures in the extremities. The radiographs showed rhizomelic and shortening of both humeri and femurs. Moreover, punctate ossification was identified in the upper spine, humeri around the shoulders, and femurs around the knees. We observed other classical features, and the genetic testing confirmed the diagnosis of RCDP type 3. Although RCDP is a rare condition, it is a distressing burden necessitating early diagnosis and a holistic approach for management.
