Clinical and dermoscopic polymorphisms in agminated Spitz nevi: Ugly presentation but benign behavior.

Agminated Spitz nevi are an uncommon entity, and their management is challenging due not only the young age of the patients but also the tumor's uncertain malignant potential and the variability in the dermoscopic and clinical presentation. We report a case of a 6-year-old boy with multiple agminated Spitz nevi on a café au lait macule with different atypical clinical patterns and dermoscopic features.

Thyroglossal duct cyst: Factors affecting cosmetic outcome and recurrence.

BACKGROUND: Thyroglossal duct cyst (TDC) is the most common congenital abnormality in the neck in children. The purpose of this study was to perform a comprehensive review of all cases of TDC surgically treated at a single institution and to evaluate the factors that influence the rate of recurrence, and the aesthetic outcome of the surgery on follow up. METHODS: All cases of TDC surgically treated at the Department of Pediatric Surgery at Meyer Hospital from January 2005 to December 2016 were selected. Charts from 248 patients were reviewed and risk factors for recurrence evaluated. A questionnaire was submitted to the patients' parents to determine if postoperative complications were present  and standardized neck pictures were requested, to evaluate the cosmetic result . Microsoft Office Excel 2007 for Windows and Graphpad Prism 6 were used for data management and statistical analysis. RESULTS: Simple cyst excision and post-inflammatory fibrosis (P < 0.05) were assessed as important risk factors for the recurrence of TDC. Recurrence rate on Sistrunk procedure was 5%. Variables such as post-inflammatory fibrosis before surgery (P < 0.001), the positioning of a drain (P < 0.01) and the development of recurrence (P < 0.001), negatively influenced the cosmetic result. No thyroglossal duct cyst carcinoma and no long-term postoperative complications were observed. CONCLUSIONS: Recurrence rates were higher in patients who underwent simple cyst excision instead of the Sistrunk procedure, as already reported in literature. Presence of post-inflammatory fibrosis and positioning of the drain at surgery were associated with higher rates of recurrence, as well as worse cosmetic outcome.

Umbilical reconstruction in children: a simplified operative technique.

UNLABELLED: The umbilicus has a paramount aesthetical function for the abdomen and when removed due to a surgical procedure, an umbilicoplasty is mandatory: indeed, its absence could contribute to the development of psychological disorders, especially in childhood. Herein, we describe a straightforward technique to obtain a seemingly natural umbilical scar. This technique, easily taught in a general pediatric surgery environment, may be amenable for any kind of umbilical reconstruction. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Primary Chest Wall Ewing Sarcoma: Treatment and Long-Term Results.

OBJECTIVE: The aim of the study is to evaluate early and long-term results of chest wall primary Ewing's sarcoma patients treated in the time period February 2000-February 2023 by a multidisciplinary approach. METHODS: We retrospectively reviewed the medical records of patients who underwent chest wall resection for a primary tumor. Treatment approach, extent of resection, 30-day mortality, overall survival (OS), local recurrence-free survival (LRFS), and metastasis-free survival (MFS) were analyzed. RESULTS: Overall, n = 15 consecutive patients were treated for chest wall primary Ewing's sarcoma. A median of n = 3 ribs was resected with a median of n = 2 ribs adjacent to the lesion. Resections were extended to the adjacent structures in n = 5 patients (33.3%). In all cases, we performed a prosthetic reconstruction, associated with muscle flap (n = 10, 66.6%) or with rigid titanium bars and muscle flap (n = 6, 40%). A radical resection was accomplished in n = 13 patients (84.6%). The median surgical time was 310 ± 120 min; median hospitalization was 7.8 ± 1.9 days. Post-operative mortality was zero. We recorded n = 4 (30.7%) post-operative complication. The median follow-up (FU) was 26 months. Moreover, 5-year overall and event-free survival were 52% and 48%, respectively. CONCLUSIONS: This case series confirms the benefit of the multidisciplinary approach for Ewing sarcomas in early and long-term results.

Differential Influence of Physical Activity on Cardiopulmonary Performance and Stroke Volume Assessed at Cardiopulmonary Exercise Test in Pectus Excavatum: A Pilot Study.

BACKGROUND: Exercise training increases muscle VO2 by increasing O2 transport and O2 uptake while cardiac output increase might be limited by the conformation of the chest in subjects with pectus excavatum (PE). AIMS: The aim of the present study was to investigate the influence of physical activity (PA) on functional parameters of cardiopulmonary performance and stroke volume obtained at Cardiopulmonary Exercise Test (CPET) in PE. METHODS AND PROCEDURES: A cohort of adolescents (15 with PE and 15 age- and sex-matched healthy controls, HC) underwent Cardiopulmonary Exercise Test (CPET) and administration of the International Physical Activity Questionnaire - Short Form (IPAQ-SF) with estimation of weekly PA (METs h-1⋅week-1). Determinants of CPET parameters were investigated with multivariable linear regression analysis. RESULTS: As expected, when compared to HC, PE had lower VO2 max (37.2 ± 6.6 vs. 45.4 ± 6.4 mL⋅kg-1⋅min-1, p < 0.05), and VO2/HR max (O2 pulse, 12.1 ± 2.4 vs. 16.2 ± 3.6 mL⋅min-1⋅bpm-1, p < 0.05). Importantly, physical activity level was a predictor of VO2 max (adjusted for sex, body mass index, FEV1%, and presence of PE, ß = 0.085; 95% Cl 0.010 to 0.160, p = 0.029) whereas O2 pulse was independent from PA level (ß = 0.035; 95% Cl -0.004 to 0.074). CONCLUSION: Physical activity is a determinant of VO2 max (cardiopulmonary performance), whereas it appears not to affect O2 pulse (a measure of stroke volume at peak exercise) related to constrained diastolic filling in PE.

Case Report: Congenital Perineal Lipoma Associated With Additional External Genitalia Anomalies.

Perineal lipoma is an uncommon congenital benign tumor sometimes associated with genitourinary or anorectal malformations. Accessory scrotum and accessory labioscrotal fold are infrequent features, often concurrent with perineal tumors. We describe a single institution experience with three consecutive cases of perineal lipoma associated with external genital anomalies, and a literature review.

A Unique Case of Primary Cutaneous Adenoid Cystic Carcinoma Associated with Aplasia Cutis Congenita in a Four-Year-Old Female: A Case Report.

INTRODUCTION: Primary cutaneous adenoid-cystic carcinoma (PCACC) is a rare malignant tumour reported in only about 450 cases in the literature, with only two adolescent cases reported. PCACC seems to occur between the fifth and seventh decade of life, and the most frequent regions involved are head and neck (46%). Aplasia cutis congenita (ACC) has an incidence of 1:10,000, and it seems to be rarely associated with neoplastic lesions. Interestingly, the association between PCACC and ACC has, so far, never been described. METHODS: We report a case of PCACC in the scalp associated with ACC in a four-year-old patient. DISCUSSION: The patient was under follow-up at the dermatology unit, but suddenly a red lesion appeared within the ACC. This red, ulcerated area increased rapidly over six months, so it was surgically removed, and the pathological examination results were suggestive for cribriform PCACC. According to the guidelines for skin tumours, the patient underwent widening resection, and an advancement-sliding skin flap was performed to recreate the scalp. After one year of follow-up, the patient has no local or widespread recurrence of the PCACC, and the surgical scar appears to have healed well. CONCLUSIONS: This clinical case is the first known patient with PCACC associated with ACC. A skin excision biopsy should be performed with wide margins to avoid a second widening resection of skin in a similar scenario. Genetic studies may help to identify the origin of this rare association.

The Role of Computer-Aided Design Implant Insertion in Revision Pectus Surgery.

Pectus excavatum affects about 1 in 500 people. Several surgical procedures have been proposed, including correction of the chest wall through a Nuss or modified Ravitch procedure. Further corrective revision operations remain challenging, and certainly potential life-threatening complications are described with less predictable outcomes. Secondary surgical procedures with a deep customized 3-dimensional elastomer implant are an elegant, effective, and safe solution compared with further corrective revision surgery.

A novel ear elements segmentation algorithm on depth map images.

The growing interest in the auricular anatomy is due to two different strands of research: 1) in the medical field it is associated with autologous ear reconstruction, a surgery adopted following trauma or congenital malformations; 2) in surveillance and law enforcement the ear is used for human detection and recognition. Alternative systems of ear analysis can be differentiated for the type of input data (two-dimensional, three-dimensional or both), for the type of acquisition tools (3D scanner, photographs, video surveillance, etc.) and finally for the adopted algorithms. Although the segmentation and recognition of the ear from the face is a widely discussed topic in literature, the detection and recognition of individual anatomical elements has not yet been studied in depth. To this end, this work lays the foundation for the identification of the auricular elements through image processing algorithms. The proposed algorithm automatically identifies the contours of the main anatomical elements by processing depth map images. The algorithm was tested qualitatively and quantitatively on a dataset composed of 150 ears. The qualitative evaluation was performed with the collaboration of medical staff and the quantitative tests were performed using manually annotated ground truth data.

G-ear: a user-friendly tool for assisted autologous ear reconstruction.

The major breakthroughs in the fields of reverse engineering and additive manufacturing have dramatically changed medical practice in recent years, pushing for a modern clinical model in which each patient is considered unique. Among the wide spectrum of medical applications, reconstructive surgery is experiencing the most benefits from this new paradigm. In this scenario, the present paper focuses on the design and development of a tool able to support the surgeon in the reconstruction of the external ear in case of malformation or total absence of the anatomy. In particular, the paper describes an appositely devised software tool, named G-ear, which enables the semi-automatic modeling of intraoperative devices to guide the physician through ear reconstruction surgery. The devised system includes 3D image segmentation, semi-automated CAD modelling and 3D printing to manufacture a set of patient-specific surgical guides for ear reconstruction. Usability tests were carried out among the surgeons of the Meyer Children's Hospital to obtain an assessment of the software by the end user. The devised system proved to be fast and efficient in retrieving the optimal 3D geometry of the surgical guides and, at the same time, to be easy to use and intuitive, thus achieving high degrees of likability.

PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib.

PIK3CA-related overgrowth spectrum (PROS) is an umbrella term referring to various clinical entities, which share the same pathogenetic mechanism. These conditions are caused by somatic gain-of-function mutations in PIK3CA, which encodes the 110-kD catalytic α subunit of PI3K (p110α). These PIK3CA mutations occur as post-zygotic events and lead to a gain of function of PI3K, with consequent constitutional activation of the downstream cascades (e.g., AKT/mTOR pathway), involved in cellular proliferation, survival and growth, as well as in vascular development in the embryonic stage. PIK3CA-related cancers and PROS share almost the same PIK3CA mutational profile, with about 80% of mutations occurring at three hotspots, E542, E545, and H1047. These hotspot mutations show the most potent effect on enzymatic activation of PI3K and consequent downstream biological responses. If present at the germinal level, these gain-of-function mutations would be lethal to the embryo, therefore we only see them in the mosaic state. The common clinical denominator of PROS disorders is that they are sporadic conditions, presenting with congenital or early childhood onset overgrowth with a typical mosaic distribution. However, the severity of PROS is highly variable, ranging from localized and apparently isolate overgrowth to progressive and extensive lipomatous overgrowth associated with life-threatening vascular malformations, as seen in CLOVES syndrome. Traditional therapeutic approaches, such as sclerotherapy and surgical debulking, are often not curative in PROS patients, leading to a recrudescence of the overgrowth in the treated area. Specific attention has been recently paid to molecules that are used and studied in the oncogenic setting and that are targeted on specific alterations of the pathway PI3K/AKT/mTOR. In June 2018, Venot et al. showed the effect of Alpelisib (BYL719), a specific inhibitor for the p110α subunit of PI3K, in patients with PROS disorders who had severe or life-threatening complications and were not sensitive to any other treatment. In these cases, dramatic anatomical and functional improvements occurred in all patients across many types of affected organ. Molecular testing in PROS patients is a crucial step in providing the conclusive diagnosis and then the opportunity for tailored therapy. The somatic nature of this group of diseases makes challenging to reach a molecular diagnosis, requiring deep sequencing methods that have to be performed on DNA extracted from affected tissue. Moreover, even analyzing the DNA extracted from affected tissue there is no guarantee to succeed in detection of the casual somatic mutation, since the affected tissue itself is highly heterogeneous and biopsy approaches can be burdened by incorrect sampling or inadequate tissue sample. We present an 8-year-old girl with CLOVES syndrome, born with a large cystic lymphangioma involving the left hemithorax and flank, multiple lipomas, and hypertrophy of the left foot and leg. She developed severe scoliosis. Many therapeutic approaches have been attempted, including Sildenafil treatment, scleroembolization, laser therapy, and multiple debulking surgeries, but none of these were of benefit to our patient's clinical status. She then started treatment with Rapamycin from May 2019, without significant improvement in both vascular malformation and leg hypertrophy. A high-coverage Whole Exome Sequencing analysis performed on DNA extracted from a skin sample showed a mosaic gain-of-function variant in the PIK3CA gene (p.H1047R, 11% of variant allele frequency). Once molecular confirmation of our clinical suspicion was obtained, after a multidisciplinary evaluation, we decided to discontinue Sirolimus and start targeted therapy with Alpelisib (50 mg/day). We noticed a decrease in fibroadipose overgrowth at the dorsal level, an improvement in in posture and excellent tolerability. The treatment is still ongoing.

CAD-based automatic modelling of customized cutting templates for Pectus Arcuatum surgical correction.

Pectus Arcuatum (PA) is a congenital chest wall deformity which produces a superior manubrial and sternal protrusion, particularly at the sternal angle. PA surgical correction to reduce the angle of the sternum always includes the removal of bone portion by means of horizontal sternal osteotomies, resection of deformed rib cartilage and finally stabilization of the anterior thoracic wall. Within this process an incorrect assessment of the sternotomy angle during the procedure may lead to the need for bone or cartilage grafts to fill the left voids. This problem has been addressed with a patient-specific cutting template, realized with Reverse Engineering and Additive Manufacturing techniques, which proved to be a key element to simplify the procedure and avoid the occurrence of this type of complications. In this work is presented and validated a procedure that, through common CAD operations, realizes in a completely automatic way the CAD model of the custom cutting template, so as to make non-expert users independent in the realization of the medical device.

Ear Reconstruction Simulation: From Handcrafting to 3D Printing.

Microtia is a congenital malformation affecting one in 5000 individuals and is characterized by physical deformity or absence of the outer ear. Nowadays, surgical reconstruction with autologous tissue is the most common clinical practice. The procedure requires a high level of manual and artistic techniques of a surgeon in carving and sculpting of harvested costal cartilage of the patient to recreate an auricular framework to insert within a skin pocket obtained at the malformed ear region. The aesthetic outcomes of the surgery are highly dependent on the experience of the surgeon performing the surgery. For this reason, surgeons need simulators to acquire adequate technical skills out of the surgery room without compromising the aesthetic appearance of the patient. The current paper aims to describe and analyze the different materials and methods adopted during the history of autologous ear reconstruction (AER) simulation to train surgeons by practice on geometrically and mechanically accurate physical replicas. Recent advances in 3D modelling software and manufacturing technologies to increase the effectiveness of AER simulators are particularly described to provide more recent outcomes.

Customized Cutting Template to Assist Sternotomy in Pectus Arcuatum.

PURPOSE: Pectus arcuatum is an anterior chest wall deformity that requires transverse wedge sternotomy. Determining and delivering the correct cutting angle are crucial for successful correction. This report describes the early clinical experience with a novel cutting template technology able to deliver the optimal cutting angle. DESCRIPTION: From patients' computed tomographic scans, the optimal cutting angle is obtained using computer-aided design. A template comprising slots tilted at the right cutting angle and a safety block to avoid damaging the posterior periosteum is printed through additive manufacturing. EVALUATION: The template allows surgeons to perform a precise wedge sternotomy, safely sparing the posterior periosteum in all patients, without complications. Postoperative chest roentgenograms and clinical photographs demonstrate optimal sternal realignment and cosmetic outcome. In this report, the mean operative time was 110 minutes. All patients were successfully discharged, with a mean length of stay of 4 days. CONCLUSIONS: Transverse wedge sternotomy aided by a computer-aided design-devised cutting template may reduce the technical challenge of this procedure, thereby increasing its safety and reducing operative times and hospital stay. Further research on long-term patient outcomes is necessary.

Pectus Carinatum: a non-invasive and objective measurement of severity.

To date, standard methods for assessing the severity of chest wall deformities are mostly linked to X-ray and CT scans. However, the use of radiations limits their use when there is a need to monitor the development of the pathology over time. This is particularly important when dealing with patients suffering from Pectus Carinatum, whose treatment mainly requires the use of corrective braces and a systematic supervision. In recent years, the assessment of severity of chest deformities by means of radiation-free devices became increasingly popular but not yet adopted as standard clinical practice. The present study aims to define an objective measure by defining a severity index (named External Pectus Carinatum Index) used to monitor the course of the disease during treatment. Computed on the optical acquisition of the patients' chest by means of an appositely devised, fast and easy-to-use, body scanner, the proposed index has been validated on a sample composed of a control group and a group of Pectus Carinatum patients. The index proved to be reliable and accurate in the characterization of the pathology, enabling the definition of a threshold that allows to distinguish the cases of patients with PC from those of healthy subjects. Graphical abstract.

A Novel Objective Approach to the External Measurement of Pectus Excavatum Severity by Means of an Optical Device.

BACKGROUND: Current approaches to quantifying the severity of pectus excavatum require internal measurements based on cross-sectional imaging. The aim of this study is to exploit a novel index evaluated on the external surface of the chest with a three-dimensional (3D) optical scanner. METHODS: Fifty-one children (41 male, 10 female) between 2 and 17 years of age were evaluated with a 3D optical scanner. Pectus excavatum severity was calculated by using an ad hoc instant 3D scanner and defining an automatic procedure to generate an optical 3D correction index (CI3D). For the latter, an ideal threshold was derived from a statistical analysis, and five blind surveys were collected from pediatric specialists on chest wall deformities. The CI3D was then correlated with blind clinical assessments of PE severity. RESULTS: The cutoff thresholds were determined to optimally discriminate between six degrees of severity of PE patients by a correlation analysis. The correlation coefficient obtained by matching the CI3D with the average subjective severity shows that the proposed method outperforms traditional approaches. CONCLUSIONS: The optical 3D index has a good match with the average subjective assessment in distinguishing patients with mild to severe PE. This innovative approach offers several advantages over existing indices, as it is repeatable and does not require cross-sectional imaging. The index might be particularly suitable for monitoring the efficacy of nonoperative treatment and, in the future, for designing an optimal personalized usage of therapeutic devices.

Regenerative Surgery in the Treatment of Cosmetic Defect Following Nuss Procedure.

BACKGROUND: In the past decade, the minimally invasive repair of pectus excavatum (MIRPE) has become the treatment of choice for severe pectus excavatum (PE), proving acceptable to excellent cosmetic results. Recently, autologous fat grafting (FG) has been identified in aesthetic and reconstructive surgery to ideally handle volume and contour defects. We report our experience about FG in the treatment of residual minor defects after MIRPE and a proposal for a new indication of this largely adopted technique. MATERIALS AND METHODS: From April 2012 to April 2015, 127 patients underwent bar removal. At outpatient check, a questionnaire was adopted to investigate aesthetic outcome prior and after surgery (3 months postoperation); scoring options varied from 4 to 0 [4, excellent; 3, very good; 2, good; 1, acceptable; and 0, unacceptable]. In patients scoring less than "good," we proposed FG at the same operating session of bar removal. The donor areas were the abdomen, trochanteric region, and inner thigh. The tissue was gently collected through a thin cannula, filtrated, and then promptly injected into the defect. RESULTS: Eleven patients (8.8%) have been selected for FG. No complications have been detected during the follow-up period (range 1-36 months). In three cases, we performed further FG procedure to achieve an optimal result. Questionnaire reported an increased mean score from 1.8 to 2.7. CONCLUSION: In our early experience, FG has provided satisfactory cosmetic results. With the present report we advocate FG as a minimally invasive "tool" to achieve better defect correction after MIRPE. These preliminary results suggest that FG could be a worthwhile resource in treating chest wall malformations.

Sternal Cleft and Pectus Excavatum: A Combined Approach for the Correction of a Complex Anterior Chest Wall Malformation in a Teenager.

Congenital sternal cleft is a rare chest wall malformation. Because of the flexibility of the chest in infants, surgical repair should be performed by primary closure in the neonatal period. In adolescents and adults, different techniques have been suggested to overcome the lack of sternal bone tissue. We describe a very rare case of an 18-year-old woman with a complete bifid sternum associated with pectus excavatum for whom a satisfactory cosmetic and functional result was obtained by adequate surgical planning, which entailed a combination of two standardized surgical techniques.