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Introduction. Congenital muscular hyperplasia of the hand is a rarely described entity, characterized by the presence of aberrant or accessory muscles in the hypothenar eminence, which has been always reported as sporadic anomaly in the medical literature. The aim of this paper is to report a series of cases with a phenotype of aberrant muscle hyperplasia associated with PIK3CA mutations. Material and Methods. We describe a retrospective series of cases followed at our institution between 2008 and 2020, with a unique phenotypein the context of PIK3CA mutations. Results. A total of 6 patients were included (4 males and 2 females), who presented with an enlargement of the hypothenar eminence of the hand and peculiar wrinkling of the overlying skin, associated with ulnar deviation of the metacarpo-phalangeal joints. In all cases, variable degrees of congenital overgrowth of the ipsilateral limb were observed. Skin punch biopsy (5 mm diameter and 3-5 mm depth) was performed on 4 patients, where striated muscle hyperplasia and the presence of striated muscular fibers in the dermis and hypodermis were observed in all of them. Genetic studies revealed PIK3CA mutation in 3 of the 4 patients whose affected tissue was analyzed, in a mosaic state ranging from 3 to 8% (His1047Arg, Glu542Lys, and Cys420Arg, 1 case each). Conclusion. Aberrant muscular hyperplasia of the hand is a well-recognized entity scarcely described in association with PIK-3CA spectrum disorder in the pediatric population. The role of PIK- 3CA in muscle overgrowth is not yet well understood. [ABSTRACT FROM AUTHOR]

Background. Surgical treatment of ileo-colic intussusception (ICI) has been reported as the second cause of emergency laparotomy in children. The performance of incidental appendectomy after surgical reduction is currently controversial. The aim is to analyse the outcomes of performing incidental appendectomy after surgical ICI reduction with or without associated bowel resection. Materials and methods. A retrospective study was performed in patients with ICI episodes, who underwent surgical treatment in our institution between 2005-2019. Patients were divided in two groups according to the performance of associated appendectomy (AA group) or not (NA group). Subsequently, a stratified analysis was performed according to the need for bowel resection in both groups. Demographic variables, intraoperative findings, surgical time, hospital stay, postoperative complications and recurrences were analysed. Results. A total of 101 patients (77 AA group; 24 NA group) were included, without differences in demographics or intraoperative findings. A total of 36 bowel resections were performed (24 group AA; 10 group NA), with no differences in surgical time (55.7 min in group AA vs. 61.2 min in group NA; p = 0.587) or hospital stay (median 5 days in both groups). There were also no differences in postoperative complications or recurrences between the two groups. Stratified analysis showed that bowel resection increases operative time, hospital stay and postoperative complications, regardless of whether associated appendectomy was performed or not. Conclusions. Incidental appendectomy during surgical treatment of ICI in children is a safe procedure that does not increase operative time, hospital stay, postoperative complications or recurrence. [ABSTRACT FROM AUTHOR]