Background: Klippel-Trénaunay syndrome (KTS) is a complex congenital vascular disorder, typically accompanied by port-wine stains, varicose veins, and limb hypertrophy. This paper reports a rare and unusual clinical condition of periosteal reaction in a pediatric case of KTS. Although periosteal new bone formation is not rare in children, as is KTS, their dual occurrence or the presentation of the former due to KTS has not been previously documented. Our objective in this study is to highlight the potential association between periosteal new bone formation and KTS, as well as to help physicians consider this association when bone neoplasm has been ruled out. Case presentation: A 7-year old girl, initially presented with a persistent mild swelling in her left shank, with no abnormalities in the X-ray of the tibiofibular. However, after a few consults and examinations, 7 weeks later, a 17 cm-long periosteal new bone formation along the left tibia and diffused dilated vessels in the left shank were revealed by the radiological examination. Not knowing the true nature of the fast-growing lesion in a typical case of KTS was worrying. Therefore, a core needle biopsy was performed. The test demonstrated a possible parosteal hemangioma. Following further investigation through an excisional biopsy, and a pathological analysis, hyperplasia of the bone tissues with no tumor cells was revealed. Thereafter, an elastic stocking treatment was prescribed. During the first two-year follow-up, recurrence of the mass or sign of progression of KTS was not observed. Conclusions: Periosteal new bone formation is a potential manifestation of KTS. Based on the conclusive pathological results of the excisional biopsy, invasive examinations and surgeries could be avoided in future KTSsubperiosteal lesion manifestations.

Background: The restoration and reconstruction of patello-femoral large osteochondral defects caused by bone tumours are challenging because of the local recurrence rate and the joint’s mechanical complexity. Although three-dimensional (3D)-printed prostheses are commonly adopted for tumour-induced bone defect reconstruction, patello-femoral osteochondral reconstruction with 3D-printed prostheses is rarely reported.Case presentation: A 44-year-old female patient with progressive swelling and pain in the left knee for 6 months was diagnosed with Campanacci Grade II giant cell tumour (GCT). She underwent intralesional curettage combined with autografting and internal fixation, after which complications of deep infection arose. The patient then underwent internal fixation removal and cement packing. Afterwards, the pain of the affected knee persisted for 11 months, and bone cement removal plus 3D-printed modular prosthesis reconstruction was performed. At the last follow-up 27 months after surgery, she was pain free, the Musculoskeletal Tumour Society (MSTS) score improved from 15/30 to 29/30, the Visual Analogue Scale (VAS) score decreased from 7 to 0, and knee flexion increased from 50° to 130°. X-ray images 22 months after surgery showed that the prosthesis and screws were in a stable position, and callus formation was found at the prosthesis-bone interface.Conclusions: A 3D-printed modular prosthesis may be a useful treatment option for the surgical reconstruction of GCT-induced patello-femoral large osteochondral defects. The firm fixation, osseointegration, and favourable congruency of the 3D-printed prosthesis with the adjacent articular surface can achieve long-term knee function and stability.

BackgroundPrevious studies have showed that single nucleotide polymorphisms (SNPs) might be implicated in the pathogenesis of osteosarcoma (OS). Numerous studies involving SNPs with OS risk have been reported; these results, however, remain controversial and no comprehensive research synopsis has been performed till now.ObjectiveThis study seeks to clarify the relationships between SNPs and OS risk using a comprehensive meta-analysis, and assess epidemiological evidence of significant associations.MethodsThe PubMed, Web of Science, and Medline were used to screen for articles that evaluated the association between SNP and OS susceptibility in humans before 24 December 2021. Furthermore, we used Venice Criteria and a false positive report probability (FPRP) test to assess the grades of epidemiological evidence for the statistical relationships.ResultsWe extracted useful data based on 43 articles, including 10,255 cases and 13,733 controls. Our results presented that 25 SNPs in 17 genes were significantly associated with OS risk. Finally, we graded strong evidence for 17 SNPs in 14 genes with OS risk (APE1 rs1760944, BCAS1 rs3787547, CTLA4 rs231775, ERCC3 rs4150506, HOTAIR rs7958904, IL6 rs1800795, IL8 rs4073, MTAP rs7023329 and rs7027989, PRKCG rs454006, RECQL5 rs820196, TP53 rs1042522, VEGF rs3025039, rs699947 and rs2010963, VMP1 rs1295925, XRCC3 rs861539), moderate for 14 SNPs in 12 genes and weak for 14 SNPs in 11 genes.ConclusionIn summary, this study offered a comprehensive meta-analysis between SNPs and OS susceptibility, then evaluated the credibility of statistical relationships, and provided useful information to identify the appropriate candidate SNPs and design future studies to evaluate SNP factors for OS risk.

No abstract