Background Costello syndrome (CS) and cardio-facio-cutaneous syndrome (CFCS) belong to the RASopathies, a group of neurodevelopmental disorders with skeletal anomalies. Due to their rarity, the characterization of the musculo-skeletal phenotype in both disorders has been poorly characterized. Patients and methods Herein we reported data on orthopedic findings and functional status of a large sample of CS and CFCS patients. Thirty-four patients (CS = 17 and CFCS = 17) were recruited. Functional and disability evaluations were performed by assessing the 6-min walking test (6MWT) and Pediatric Outcomes Data Collection Instrument (PODCI). Genotype/phenotype correlation was also provided. Results Orthopedic manifestations are highly prevalent in CS and CFCS and overlap in the two disorders. Overall, patients with CS harboring the recurrent HRAS Gly12Ser substitution show a more severe skeletal phenotype compared to patients carrying the Gly12Ala and Gly13Cys variants. Among CFCS patients, those with the MAP2K1/2 variant show different skeletal characteristics compared to BRAF variants, with a higher prevalence of orthopedic abnormalities. Functional assessment showed that patients with CS and CFCS reached lower values compared to the general population, with CFCS patients displaying the lowest scores. Conclusions Orthopedic manifestations appear universal features of CS and CFCS and they can evolve across patients’ life. Longitudinal assessment of disability status by using 6MWT and PODCI could be useful to evaluate the functional impact of orthopedic manifestations on patients’ outcome and help planning a tailored treatment of these comorbidities.

BackgroundCostello syndrome (CS) and cardio-facio-cutaneous syndrome (CFCS) belong to the RASopathies, a group of neurodevelopmental disorders with skeletal anomalies. Due to their rarity, the characterization of the musculo-skeletal phenotype in both disorders has been poorly characterized.Patients and methodsHerein we reported data on orthopedic findings and functional status of a large sample of CS and CFCS patients. Thirty-four patients (CS=17 and CFCS=17) were recruited. Functional and disability evaluations were performed by assessing the 6-minute walking test (6MWT) and Pediatric Outcomes Data Collection Instrument (PODCI). Genotype/phenotype correlation was also provided.ResultsOrthopedic manifestations are highly prevalent in CS and CFCS and overlap in the two disorders. Overall, patients with CS harboring the recurrent HRAS Gly12Ser substitution show a more severe skeletal phenotype compared to patients carrying the Gly12Ala and Gly13Cys variants. Among CFCS patients, those with the MAP2K1/2 variant show different skeletal characteristics compared to BRAF variants, with a higher prevalence of orthopedic abnormalities. Functional assessment showed that patients with CS and CFCS reached lower values compared to the general population, with CFCS patients displaying the lowest scores.ConclusionsOrthopedic manifestations appear universal features of CS and CFCS and they can evolve across patients’ life. Longitudinal assessment of disability status by using 6MWT and PODCI could be useful to evaluate the functional impact of orthopedic manifestations on patients’ outcome and help planning a tailored treatment of these comorbidities.

Summary: Total nasal reconstruction always represents a challenge for the plastic surgeon, who must deal both with the reconstructive procedure and compliance of the patient. This kind of reconstruction often requires more than one step. Therefore, more prolonged and emphasized scarring than normal can occur, thus resulting in a higher risk of nostril stenosis. Although several nasal retainers have been described, traditional premade retainers could be poorly tolerated by patients and need to be adequately customized to improve patient compliance. Herein, the authors propose a new, cheap, and reliable method to prepare customized nasal retainers which can be used after every step of nasal reconstruction.

Background: The real benefit of using drains for reducing the risk of complications in sentinel lymph node biopsy (SLNB) has not been investigated yet. We aimed to evaluate the role of drain after SLNB and to determine if a correlation exists between drains and early complications. Methods: This is a retrospective study of patients who underwent SLNB for melanoma from 2016 to 2021. Patients were dichotomized into two groups according to the use of drain. The between-group comparison (drainage group versus no drainage group) was performed by using Mann-Whitney U test and chi-square test. A regression analysis was conducted to identify predictors of complications. Results: Of 218 individuals analyzed, 18 (8.4%) had postoperative complications. The most common complications were seroma (5.1%) and wound dehiscence (1.4%). The between-group analysis showed no significant differences in complication rate, whereas the operative time was significantly higher in the drainage group (P = 0.007), as well as the hospital stay (P ≤ 0.0001) and the duration of postoperative antibiotic therapy (P = 0.02). The regression analysis found body mass index and multiple basins of SLNB (axilla with groin) to be significant predictors of having a complication (P = 0.03 and P = 0.05, respectively). The operative time was found to be a predictor of seroma (P = 0.04). Conclusions: Drainage use in SLNB prolonged hospital stays and duration of postoperative antibiotic therapy, thus resulting in higher costs. The preemptive use of drainage is suggested in selected settings of patients.