Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition.

Hemifacial myohyperplasia (HFMH) is a rare cause of facial asymmetry exclusively involving facial muscles. The underlying cause and the mechanism of disease progression are unknown. Here, we identified a somatic gain-of-function mutation of PIK3CA in five pediatric patients with HFMH. To understand the physiopathology of muscle hypertrophy in this context, we created a mouse model carrying specifically a PIK3CA mutation in skeletal muscles. PIK3CA gain-of-function mutation led to striated muscle cell hypertrophy, mitochondria dysfunction, and hypoglycemia with low circulating insulin levels. Alpelisib treatment, an approved PIK3CA inhibitor, was able to prevent and reduce muscle hypertrophy in the mouse model with correction of endocrine anomalies. Based on these findings, we treated the five HFMH patients. All patients demonstrated clinical, esthetical, and radiological improvement with proof of target engagement. In conclusion, we show that HFMH is due to somatic alteration of PIK3CA and is accessible to pharmacological intervention.

Injuries and child abuse increase during the pandemic over 12942 emergency admissions.

INTRODUCTION: A strict lockdown was decided from 17/03/2020 to 11/05/2020 in France in order to tackle the first wave of the COVID19 pandemic. In the Great Paris region, several areas are severely affected by overcrowding, creating difficult conditions for children and their families during a period of nearly two months. The objective was to assess the effects of the 2020 spring lockdown on injuries, child abuse and neglect. MATERIAL AND METHODS: The central medical data warehouse was screened for all pediatric admissions at emergency and critical care departments of 20 hospitals, in a cohort of 12942 children. Specific keywords were used to screen for both injuries and child abuse and neglect. RESULTS: We found head and neck trauma (1.2% in 2020 vs. 0.7% in 2019, p<0.001), burns (0.6% in 2020 vs. 0.1% in 2019, p < 0.001), lacerations (0.5% in 2020 vs. 0.3% in 2019, p<0.001), fractures (0.5% in 2020 vs. 0.3% in 2019, p<0.017), dog bites (0.1% in 2020 vs. 0.0% in 2019, p<0.001), and child abuse and neglect (18 cases during the 2020 lockdown vs. 24 cases in 2019, p=0.005) were significantly more prevalent during this period than during the same control period in 2019. CONCLUSIONS: These results indicate that specific prevention measures are crucial if strict lockdowns are to be decided in the future.

A Case of Complex Facial Reconstruction Illuminates Paul Tessier's Surgical State of Mind.

ABSTRACT: Successful head and neck reconstructions tackle both morphological and functional issues within treatment plans involving multiple coordinated steps. Nowadays, biomaterials, computer-assisted surgery, and free tissue transfers have greatly increased the potentialities of craniofacial surgeons. In the 1970s, when Paul Tessier, one of the founders of modern plastic surgery, was at the peak of his career, complex reconstructions had little technology to rely on. Here we report a case of facial reconstruction after gunshot trauma performed by Paul Tessier based on his "craniofacial autarchy" principle, that is using solely local flaps and grafts harvested in the head and neck area. This case involved 30 procedures on the mandible, maxilla, chin, lips, and nose. Based on data from the archives from the "Association Française des Chirurgiens de la Face" (Amiens, France) we provide details on Tessier's approach to surgical planning and on his global conception of treatment plans in reconstructive surgery.

Computer-Aided Design and Computer-Aided Manufacturing Versus Conventional Free Fibula Flap Reconstruction in Benign Mandibular Lesions: An Italian Cost Analysis.

PURPOSE: The cost of computer-aided design and computer-aided manufacturing (CAD-CAM) technology has created obstacles for its widespread use despite its several advantages. This study compared the cost of CAD-CAM technology with that of the conventional freehand technique in fibula reshaping for mandibular reconstruction. MATERIALS AND METHODS: A retrospective comparative study was conducted at the Maxillofacial and Dental Unit of the Fondazione Ca' Granda IRCCS Ospedale Maggiore Policlinico (Milan, Italy). The study compared 15 patients in the CAD-CAM group with 10 patients in the conventional freehand group. Only benign pathologic lesions that required at least 3 fibular segments for reconstruction were included. The consumption of resources was estimated using micro-costing analysis (activity-based costing approach). RESULTS: The CAD-CAM group included 15 patients (7 men and 8 women) with a mean age of 42.2 ± 1.5 years, and the conventional freehand group included 10 patients (4 men and 6 women) with a mean age of 40.8 ± 0.9 years. Although CAD-CAM was a statistically expensive procedure in the perioperative phase (P < .0001), no significant difference was shown in total health care costs between the 2 groups (P = .98). CONCLUSION: CAD-CAM technology had a comparable expense to the conventional freehand technique, specifically for defects requiring at least 3 fibular segments.

Oral Surgery in Patients With Glanzmann Thrombasthenia: A Case Series.

Glanzmann thrombasthenia is a severe defect of platelet function caused by an inherited deficiency or dysfunction of the glycoprotein IIb/IIIa complex, the platelet fibrinogen receptor. Patients with Glanzmann thrombasthenia experience lifelong spontaneous and post-traumatic mucocutaneous bleeding diathesis. Surgery is usually very challenging, requiring close cooperation among surgeons, hematologists, and anesthesiologists. For anatomic reasons, oral surgery is particularly difficult owing to the inherent risk of hemorrhage and the difficulty in achieving local hemostasis. In the present report, we describe 3 successful cases of oral surgery in patients with Glanzmann thrombasthenia and report the surgical and hematologic management of each case.

Resorbable Materials for Reconstruction of the Orbital Floor in Children.

The best treatment of pediatric orbital fractures is debated and different strategies are proposed in the literature. Resorbable materials, due to their features and the specific requirements of the pediatric population, seem a very suitable choice. The authors present their experience by describing 3 cases and explaining their mesh modeling technique. Two fractures were caused by accidental falls, whereas the other resulted from aggression. Clinical and radiological evaluation (computed tomography scanning) was performed before surgery. No complications occurred either immediately after surgery or in the long term (maximum follow-up of 3 y). As there has been little experience of the use of resorbable mesh in maxillofacial pediatric traumatology, the authors describe their technique, which may facilitate the use of this material in orbital fractures.