Search Results (28)

Background and Clinical Significance: Juvenile ossifying fibroma (JOF) is a rare, benign, but locally aggressive fibro-osseous neoplasm that primarily affects the craniofacial skeleton of children and adolescents. Early surgical intervention is often required due to the lesion’s rapid growth and potential for significant facial deformity. Long-term functional and esthetic rehabilitation following maxillary resection in early childhood remains a clinical challenge. Case Presentation: This case reports a unique long-term follow-up of a 22-year-old female patient who underwent partial maxillary resection at the age of five due to JOF. Initial reconstructive efforts failed, necessitating a removable prosthesis to restore function and appearance. The patient experienced persistent self-consciousness and social withdrawal during adolescence, attributed to altered facial esthetics and repeated surgical disappointment. Nevertheless, prosthetic rehabilitation significantly improved mastication, phonetics, facial symmetry, and psychological well-being. Conclusions: The enduring psychosocial and functional impact of early maxillary resection for JOF and the pivotal role of prosthodontic management in long term rehabilitation are highlighted. A multidisciplinary approach that includes psychological support is suggested. This case report is among the few reports documenting long-term prosthetic outcomes for pediatric JOF patients extending into adulthood. Full article

Background: Gorlin–Goltz syndrome (GGS), also known as basal cell nevus syndrome or nevoid basal cell carcinoma syndrome, is a rare genetic disorder caused by mutations in the PTCH1, PTCH2, or SUFU genes, leading to an increased risk of neoplasms. Craniofacial anomalies are among the most common features of GGS. This paper aimed to highlight the similarities and differences in clinical presentation across different ages and to emphasize the importance of including all family members in the diagnostic process. The diagnosis can often be initiated by a dentist through routine radiographic imaging. Case Presentation: We present a 17-year longitudinal follow-up of a male patient with recurrent multiple odontogenic keratocysts and other manifestations consistent with GGS. Nearly 20 years later, the patient’s mother presented with similar clinical features suggestive of GGS. Diagnostic imaging, including contrast-enhanced computed tomography (CT), cone-beam CT, magnetic resonance imaging, and orthopantomography, was performed, and the diagnosis was confirmed through genetic testing. Interdisciplinary management included age-appropriate surgical and dermatological treatments tailored to lesion severity. Conclusions: Given the frequent involvement of the stomatognathic system in GGS, dentists play a critical role in early detection and referral. Comprehensive family-based screening is essential for timely diagnosis, improved monitoring, and effective management of this multisystem disorder. Full article

Fibrous dysplasia is an uncommon bone disorder affecting various parts of the skeleton, often affecting facial and cranial bones. In this case, a 10-year-old patient was diagnosed with fibrous dysplasia of the ethmoid sinus at an early age. The patient has experienced nasal congestion, snores, and worsening nasal patency since 2019. A CT scan revealed an expansive proliferative lesion, likely from the frontal or ethmoid bone, protruding into the nasal cavity, ethmoid sinus, and right orbit. The tumor causes bone defects in the area of the nasal bone, leading to fluid retention in the peripheral parts of the right maxillary sinus. The patient’s parents decided not to undergo surgery to remove the diseased tissue and reconstruct the area, as it would be very extensive, risky, and disfiguring. The patient is being treated conservatively with an MRI, with a contrast performed approximately every six months and infusions of bisphosphonates. Despite the lesion’s size, the patient does not experience pain characteristic of dysplasia, and functions typically. Fibrous dysplasia of bone is a rare condition that presents with the most visually apparent manifestations, often mistaken for other bone conditions. Advanced diagnostic tools, like CT and MRI, are used to identify conditions affecting the ethmoid sinus more frequently. However, diagnostic errors often occur in imaging studies, leading to confusion. The most common period for clinical manifestations and diagnosis is around 10 years of age. The preferred approach in managing fibrous dysplasia involves symptomatic treatment, which can alleviate airway obstruction, restore normal globe position and visual function, and address physical deformities. Surgical intervention is recommended only for patients with severe functional impairment, progressive deformities, or malignant transformation. Full article

Hemifacial microsomia is the second most common congenital anomaly of the craniofacial region. Hemifacial microsomia is characterised by unilateral hypoplasia of the ear. Treatment of this condition depends on the severity of the lesion. The treatment of hemifacial microsomia must be carried out by a multidisciplinary group of professionals familiar with this pathology, including plastic surgeons, parapsychologists, orthodontists, and paediatricians. In hemifacial microsomia, microtia is usually accompanied by alterations of the middle ear. Since the ear develops embryonically from the first and second branchial arches, the facial areas that also develop from these embryonic origins are usually affected to a greater or lesser degree, including through hypoplasia of the jaw, maxilla, zygomatic bones, and temporal bone, among others. Although jaw hypoplasia is the most evident deformity in craniofacial microsomia, microtia is the alteration that often has the greatest aesthetic impact on patients. Alterations in dentition are also common, typically presenting as a cephalad inclination of the anterior occlusal plane of the maxilla and mandible on the affected side. This study aims to review the surgical approach and evaluate the results of a paediatric case of hemifacial microsomia. Hemifacial microsomia is present at birth, and successful reconstruction is essential for the correct integration of such infantile patients into society. Multiple facial asymmetries as well as neonatal onset are a challenge for reconstructive surgery, and the importance of multidisciplinary treatment in these patients must be emphasised. Full article

Bone defects within the cranio-orbital complex present unique challenges in terms of surgical planning and reconstruction. This article presents a novel approach using PEEK material and advanced surgical technologies to address these challenges. A retrospective analysis of 15 patients who underwent craniofacial reconstruction using patient-specific polyetheretherketone (PEEK) implants between 2016 and 2021 was carried out. Comprehensive preoperative planning was performed, utilizing advanced imaging techniques and specialized software for virtual surgical planning. Patient-specific PEEK PSIs were designed and manufactured based on the preoperative plan. Intraoperative navigation was used to guide the surgical procedure, enabling precise osteotomy and optimal implant placement. This article describes the step-by-step process and the tools utilized in each phase. The etiologies were as follows: meningioma in seven cases, benign lesions in five cases, malignant tumors in two cases, and trauma sequelae in one case. In all cases, 3D-printed PEEK implants were utilized to achieve precise reconstruction. No major complications were described. In one case, an implant replacement was needed with successful outcomes. Our study demonstrates the feasibility and effectiveness of using PEEK patient-specific implants for personalized craniofacial reconstruction. The combination of advanced imaging, virtual planning, and CAD-CAM technology contributes to improved surgical outcomes in terms of oncologic margin control, functional restoration, and aesthetic results. Full article

In craniofacial research and routine dental clinical procedures, multifunctional materials with antimicrobial properties are in constant demand. Ionic liquids (ILs) are one such multifunctional intelligent material. Over the last three decades, ILs have been explored for different biomedical applications due to their unique physical and chemical properties, high task specificity, and sustainability. Their stable physical and chemical characteristics and extremely low vapor pressure make them suitable for various applications. Their unique properties, such as density, viscosity, and hydrophilicity/hydrophobicity, may provide higher performance as a potential dental material. ILs have functionalities for optimizing dental implants, infiltrate materials, oral hygiene maintenance products, and restorative materials. They also serve as sensors for dental chairside usage to detect oral cancer, periodontal lesions, breath-based sobriety, and dental hard tissue defects. With further optimization, ILs might also make vital contributions to craniofacial regeneration, oral hygiene maintenance, oral disease prevention, and antimicrobial materials. This review explores the different advantages and properties of ILs as possible dental material. Full article

Background: Patients with dysplastic bone diseases, including fibrous dysplasia (FD), represent a particular challenge for placement of dental implants. This is due to structural bony changes that may compromise the bone blood supply and plasticity, thus potentially affecting the process of osseointegration. This case report describes a novel approach for dental-implant-based rehabilitation of the posterior maxilla affected by craniofacial fibrous dysplasia (CFD), with 7 years of treatment follow-up. Case presentation: A 35-year-old female patient was referred due to a suspected unidentified bone lesion affecting the left side of the maxilla. A clinical and radiographic diagnosis of fibrous dysplasia was confirmed through a wedge bone biopsy. Particulate bone substitute was packed into a box-shaped ostectomy area of the lesion in the affected maxillary alveolar ridge. This was followed by the placement of four implants 6 months post operation. The implants were successfully integrated, as confirmed by clinical examination over 7 years of follow up. Conclusion: this treatment approach may be considered as a predictable and efficient treatment modality for dental implant rehabilitation in patients with a variety of fibro-osseous lesions, including fibrous dysplasia, which affect the alveolar bone. Full article

Background: The outcomes of orbital exenteration (OE) in patients with craniofacial lesions (CFLs) remain unclear. The present review summarizes the available literature on the clinical outcomes of OE, including surgical outcomes and overall survival (OS). Methods: Relevant articles were retrieved from Medline, Scopus, and Cochrane according to PRISMA guidelines. A systematic review and meta-analysis were conducted on the clinical characteristics, management, and outcomes. Results: A total of 33 articles containing 957 patients who underwent OE for CFLs were included (weighted mean age: 64.3 years [95% CI: 59.9–68.7]; 58.3% were male). The most common lesion was squamous cell carcinoma (31.8%), and the most common symptom was disturbed vision/reduced visual acuity (22.5%). Of the patients, 302 (31.6%) had total OE, 248 (26.0%) had extended OE, and 87 (9.0%) had subtotal OE. Free flaps (33.3%), endosseous implants (22.8%), and split-thickness skin grafts (17.2%) were the most used reconstructive methods. Sino-orbital or sino-nasal fistula (22.6%), flap or graft failure (16.9%), and hyperostosis (13%) were the most reported complications. Regarding tumor recurrences, 38.6% were local, 32.3% were distant, and 6.7% were regional. The perineural invasion rate was 17.4%, while the lymphovascular invasion rate was 5.0%. Over a weighted mean follow-up period of 23.6 months (95% CI: 13.8–33.4), a weighted overall mortality rate of 39% (95% CI: 28–50%) was observed. The 5-year OS rate was 50% (median: 61 months [95% CI: 46–83]). The OS multivariable analysis did not show any significant findings. Conclusions: Although OE is a disfiguring procedure with devastating outcomes, it is a viable option for carefully selected patients with advanced CFLs. A patient-tailored approach based on tumor pathology, extension, and overall patient condition is warranted. Full article

Rhabdomyosarcoma frequently affects the craniofacial region with a rapid growing pattern that usually results in swelling of the interested area. The present paper describes a peculiar occurrence of rhabdomyosarcoma in a 12-year-old boy and the importance of a careful evaluation of clinical history to choose the correct diagnostic strategy. The patient was evaluated in the orthodontics section of the Dental School of the University of Bologna by an orofacial pain specialist, with a compliance of excruciating pain around the right ear that occurred 4 months earlier after a sports trauma. The patient had been previously evaluated by a pediatrician and an ENT specialist who requested a computerized tomography that did not show pathological conditions in the head/neck district. The drug therapy for pain control was not effective. The clinical examination showed a severe limitation of mouth opening, periauricular paresthesia and mandibular hyperalgesia on the right side. The patient reported intermittent, very intense stabs of pain occurring every 5 min, with a continuous dull pain in the temporal area. A nuclear magnetic resonance was requested and showed the presence of a solid expansive lesion in the right pterygoid area that eroded the cranial base and the medial portion of the mandibular condyle. An incisional biopsy led to the diagnosis of embryonal rhabdomyosarcoma. This case report emphasizes the importance of not underestimating the presence of pain in young subjects, suggesting a proper approach to apparently simple clinical cases. Full article

This study aimed to provide a complex analysis of the modifications in craniofacial skeleton development that may arise following the diagnosis of pediatric benign jaw tumors. A prospective study was undertaken involving 53 patients younger than 18 years of age, who presented for treatment at the Department of Maxillo-Facial Surgery, University of Medicine and Pharmacy, Cluj-Napoca, with a primary benign jaw lesion between 2012 and 2022. A total of 28 odontogenic cysts (OCs), 14 odontogenic tumors (OTs), and 11 non-OTs were identified. At follow-up, dental anomalies were identified in 26 patients, and overjet changes were found in 33 children; lateral crossbite, midline shift, and edge-to-edge bite were found in 49 cases; deep or open bite were found in 23 patients. Temporomandibular disorders (TMDs) were found in 51 children, with unilateral TMJ changes identified in 7 cases and bilateral modifications found in 44 patients. Degenerative changes in the TMJ were also diagnosed in 22 pediatric patients. Although benign lesions could be associated with dental malocclusions, a direct etiological factor could be not identified. The presence of jaw tumors or their surgical treatment could, however, be linked to a change of the occlusal relationships or the onset of a TMD. Full article

Tissue engineering in the orofacial region with bioactive components by the activation of immune complexes or other proteins is the current focus of biomaterials research. Consequently, natural ground materials and tissue components are being created. Bioactive glass is one of the most promising biomaterials and has bioactive properties making it suited for a range of different clinical dental applications, including the regeneration of hard tissues in the craniofacial region. This narrative review provides a summary of the favorable properties and recent applications of bioactive glass materials for the management of periodontal lesions. Bioactive glass mimics natural calcified tissues in terms of composition and has a bioactive role in bone regeneration. The present review concluded that bioactive glass materials have a promising potential for various periodontal applications including the repair of infrabony defects, gingival recession, furcation defects, and guided tissue regeneration. However, further in vivo studies and clinical trials are warranted to advance and validate the potential of bioactive glass for periodontal applications and translate its usage in dental clinics for periodontology. Full article

Surgical treatment of craniofacial region diseases associated with soft tissue and bone loss is always a challenge for medical specialists. The paper reports a case of a 70-year-old patient who presented with a defect in the forehead area that had been dermatologically treated. Following clinical, laboratory and imaging diagnostics, the lesion was classified as skin sinus fistula. The case study analyzes overgrowth of the nasofrontal duct associated with the laryngological endoscopic procedure (restoring the patency of the frontal sinus was performed as the initial part of the treatment.) Maxillofacial surgeons made an attempt to create an acrylic “space maintainer” which can be used either temporarily or as the ultimate option. The manuscript also describes a method of multi-specialized surgical treatment and subsequent esthetic management with the use of an individualized epithesis for soft tissue replacement. Full article

Fibrous dysplasia (FD) is a rare, non-inherited bone disease occurring following a somatic gain-of-function R201 missense mutation of the guanine-nucleotide binding protein alpha subunit stimulating activity polypeptide 1 (GNAS) gene. The spectrum of the disease ranges from a single FD lesion to a combination with extraskeletal features; an amalgamation with café-au-lait skin hyperpigmentation, precocious puberty, and other endocrinopathies defines McCune–Albright Syndrome (MAS). Pain in FD/MAS represents one of the most prominent aspects of the disease and one of the most challenging to treat—an outcome driven by (i) the heterogeneous nature of FD/MAS, (ii) the variable presentation of pain phenotypes (i.e., craniofacial vs. musculoskeletal pain), (iii) a lack of studies probing pain mechanisms, and (iv) a lack of rigorously validated analgesic strategies in FD/MAS. At present, a range of pharmacotherapies are prescribed to patients with FD/MAS to mitigate skeletal disease activity, as well as pain. We analyze evidence guiding the current use of bisphosphonates, denosumab, and other therapies in FD/MAS, and also discuss the potential underlying pharmacological mechanisms by which pain relief may be achieved. Furthermore, we highlight the range of presentation of pain in individual cases of FD/MAS to further describe the difficulties associated with employing effective pain treatment in FD/MAS. Potential next steps toward identifying and validating effective pain treatments in FD/MAS are discussed, such as employing randomized control trials and probing new pain pathways in this rare bone disease. Full article

Vascular-disrupting agents (VDAs) have shown a preliminary anti-cancer effect in extracranial tumors; however, the therapeutic potential of VDAs in intracranial metastatic lesions remains unclear. Simultaneous intracranial and extracranial tumors were induced by the implantation of rhabdomyosarcoma in 15 WAG/Rij rats. Pre-treatment characterizations were performed at a 3.0 T clinical magnet including a T2 relaxation map, T1 relaxation map, diffusion-weighted imaging (DWI), and perfusion-weighted imaging (PWI). Shortly afterward, a VDA was intravenously given and MRI scans at 1 h, 8 h, and 24 h after treatment were performed. In vivo findings were further confirmed by postmortem angiography and histopathology staining with H&E, Ki67, and CD31. Before VDA treatment, better perfusion (AUC30: 0.067 vs. 0.058, p < 0.05) and AUC300 value (0.193 vs. 0.063, p < 0.001) were observed in extracranial lesions, compared with intracranial lesions. After VDA treatment, more significant and persistent perfusion deficiency measured by PWI (AUC30: 0.067 vs. 0.008, p < 0.0001) and a T1 map (T1 ratio: 0.429 vs. 0.587, p < 0.05) were observed in extracranial tumors, in contrast to the intracranial tumor (AUC30: 0.058 vs. 0.049, p > 0.05, T1 ratio: 0.497 vs. 0.625, p < 0.05). Additionally, significant changes in the T2 value and apparent diffusion coefficient (ADC) value were observed in extracranial lesions, instead of intracranial lesions. Postmortem angiography and pathology showed a significantly larger H&E-stained area of necrosis (86.2% vs. 18.3%, p < 0.0001), lower CD31 level (42.7% vs. 54.3%, p < 0.05), and lower Ki67 level (12.2% vs. 32.3%, p < 0.01) in extracranial tumors, compared with intracranial lesions. The BBB functioned as a barrier against the delivery of VDA into intracranial tumors and multiparametric MRI may predict the efficacy of VDAs on craniofacial tumors. Full article

Musculocontractural Ehlers–Danlos syndrome (mcEDS) is a subtype of EDS caused by defective dermatan sulfate biosynthesis, characterized by multiple malformations (craniofacial features, ocular and visceral malformations) and progressive cutaneous, skeletal, vascular, and visceral fragility-related manifestations. Repeated dislocations and deformities of the joints due to joint relaxation are observed, causing serious damage to the musculoskeletal system of the whole body; however, the motor function of the upper limbs and the morphology of the bone joints have not been systematically investigated. In this study, we present a detailed and comprehensive report on upper limb lesions of 13 patients with a mean age at the first visit of 21 years. Twelve patients (92.3%) had a history of dislocation. Eleven patients (84.6%) had shoulder dislocations, and two patients (15.4%) had elbow dislocations. Four patients (30.8%) had elbow osteoarthritis, and three patients (23.1%) had distal radioulnar joint (DRUJ) osteoarthritis. The phalanges and metacarpals are thin, and the ratio of medullary cavity of the metacarpal bone decreases with age. As bone and joint deformity progresses, patients with mcEDS should be recommended to receive regular follow-up, including radiology. The present findings suggest an important role for dermatan sulfate in the maintenance of the skeletal system. Full article