Venous malformation differential diagnosis with an odontogenic abscess on a pediatric patient. Case report and review of the literature.

Venous malformations (VMs) are aberrant venous vessel angiogenesis present at birth. However, they can become apparent later in life, debuting in early childhood. This poses a clinical quest for surgeons, dentists, and pediatricians, as they might appear as a compressible mass in the head and neck region, not uncommonly mistaking them for odontogenic abscesses or other soft tissue tumors. The differential diagnosis can be challenging and imaging techniques are often needed. Ultrasounds are extremely useful initially as other diagnostic tools can be potentially harmful in the context of a VM. MRI is key as it provides accurate extension and location information, and allows to plan invasive treatment alternatives if the patient requires it. In this article, we present the case of a 6-year-old girl who was treated by mistake for an infection upon the diagnosis of an incipient odontogenic abscess instead of a venous malformation, and a literature review on VMs. Key words:Venous malformation, odontogenic abscess, differential diagnosis.

Genetic Profile of Arteriovenous Anomalies of the Head and Neck: Implications in Progression and Therapeutic Approaches.

BACKGROUND: Arteriovenous Malformations (AVMs) are complex vascular anomalies that are usually sporadic and can have a variable clinical course. Treatment of AVMs can lead to severe sequeale and require thorough decision-making. There is a lack of standardized treatment protocols showing a growing need for pharmacological targeted therapies, specially in the most severe cases where surgery may not be feasible. Current knowledge in molecular pathways and genetic diagnosis have shed light in the pathophysiology of AVMs, opening possibilities for personalized treatment strategies. METHODS: We performed a retrospective review of patients with head and neck AVMs treated in our department between 2003 and 2021 and performed a complete physical examination and imaging with ultrasound and angio-CT or MRI. Patients underwent genetic testing on AVMs' tissue samples and/or peripheral blood samples. Patients were grouped according to the genetic variant and a correlation between phenotype and genotype was studied. RESULTS: 22 patients with head and neck AVMs were included. We found eight patients with varians in MAP2K1, four patients with pathogenic variants in KRAS, six patients with pathogenic variants in RASA1, one patient with a pathogenic variant in BRAF, one patient with a pathogenic variant in NF1, another patient with a pathogenic variant in CELSR1 and one patient with pathogenic variants in PIK3CA and GNA14. Patients with MAP2K1 variants were the biggest group, with a moderate clinical course. Patients with KRAS mutations showed the most aggressive clinical course and a high rate of recurrence and osteolysis. Patients with RASA1 variants showed a characteristic phenotype with an ipsilateral capillary malformation in the neck. CONCLUSION: We found a correlation between genotype and phenotype in this group of patients. The genetic diagnosis of AVMs is recommended in order to stablish a personalized treatment strategy. Targeted therapies are currently being investigated with promising results and may be recommended in addition to conventional surgical or embolization procedures, specially in the most complex cases. LEVEL OF EVIDENCE: Level IV.

Contribution and safety of the side-to-end hypoglossal-to-facial transfer in multidisciplinary facial reanimation.

BACKGROUND: This study evaluates facial and tongue function in patients undergoing side-to-end hypoglossal-to-facial transfer (HFT) with additional techniques. METHODS: Thirty-seven patients underwent a side-to-end HFT. Twelve had additional cross-face grafts, and 9 had an additional masseter-to-facial transfer. Facial was assessed with House-Brackmann (HB), Sunnybrook Facial Grading Scale (SFGS), and eFACE. Martins scale and the Oral-Pharyngeal Disability Index (OPDI) were used to assess tongue function. RESULTS: Ninety-four percent of cases reached HB grades III-IV. Mean total SFGS score improved from 16 ± 15 to 59 ± 11, while total eFACE score from 52 ± 13 to 80 ± 5. Dual nerve transfers were a predictor for a better eFACE total score p = 0.034, ß = 2.350 [95% CI, 0.184-4.516]), as well as for a higher SFGS total score (p = 0.036, ß = 5.412 [95% CI, 0.375-10.449]). All patients had Martin's grade I. Mean postoperative OPDI scores were 84 ± 17 (local physical), 69 ± 16 (simple and sensory motor components), 82 ± 14 (complex functions), and 73 ± 22 (psychosocial). CONCLUSIONS: The side-to-end HFT offers predictable facial function outcome and preserves tongue function in nearly all cases. Dual nerve transfers appear to improve the final outcome.

Combined Sequential Bilateral Hypoglossal-to-facial and Masseter-to-facial Transfers for Bilateral Facial Paralysis.

Bilateral facial paralysis is a challenging situation requiring complex management. Surgical treatment can include nerve transfers, mainly masseter-to-facial, or muscle transfers, gracilis free flap, or temporalis transposition. Deciding on the surgical option depends on the duration of the paralysis and the feasibility of facial muscles. We present the case of a 10-year-old child with permanent bilateral facial paralysis after brainstem tumor surgery. The patient was treated with bilateral simultaneous hypoglossal-to-facial transfer followed by bilateral simultaneous masseter-to-facial 12 months later. After 23 months of follow-up and specific physical therapy, she has good and symmetric resting tone, complete eye closure, moderate bilateral smile excursion, mild lip pucker movement, and good oral competence. The combination of these two nerve transfers, when possible, gives the opportunity of restoring movement taking the best of each technique, with acceptable results and no significant clinical deficits in the donor sites.

Fibrovascular Tumor-Like Lesions of the Facial Nerve.

BACKGROUND: Facial nerve tumors (FNTs) are relatively rare benign lesions that arise from any segment of the facial nerve (FN). About half of all patients present with FN dysfunction, mainly long-standing or progressive facial paralysis. Diagnosis of an FNT is usually based on radiological imaging and confirmed by histological study. Most reported cases of FNTs are schwannomas and hemangiomas. OBJECTIVES: The aim of this study was to review 4 cases of lesions with clinical, radiological, and surgical findings that suggested an FNT, the pathology revealing a fibrovascular proliferation with no clear signs of a specific tumor. METHOD: Medical records of patients who had surgery due to an FN lesion were reviewed. Cases with known tumoral lesions were excluded. Four patients with tumor-like lesions were identified. Their imaging studies were re-evaluated. The pathological study included hematoxylin-eosin, Masson's trichrome, and immunohistochemistry for S100 protein, neurofilaments, CD31, Wilms' tumor 1 (WT1), and D240. RESULTS: The 4 cases revealed tumor-like fibrovascular lesions that could not be classified as typical pathological entities. All cases had a complete facial palsy preoperatively. Computed tomography and magnetic resonance imaging (MRI) suggested schwannoma or hemangioma. A complete excision was achieved, and a facial reconstruction was performed immediately after interruption. Postoperative FN function was improved in all cases. The histological study showed nervous tracts of normal morphology, with fibrous and vascular tissue interspersed in variable proportions. All cases showed areas of fibrosis with Masson's stain. In all cases, nervous tissue and Schwann cells tested positively for neurofilaments and S100, respectively. In vascular areas, endothelial cells stained positively for CD31, and negatively for D240 and WT1. CONCLUSIONS: Fibrovascular lesions of the FN may mimic primary FNTs, especially schwannomas and hemangiomas. Surgical excision with grafting or nerve transfer is the procedure of choice if a complete facial paralysis is found. This unusual condition should be considered when counseling patients with FN lesions. The lack of hyperintensity on MRI T2-weighted images may suggest the presence of fibrous tissue.

The Experience of a Facial Nerve Unit in the Treatment of Patients With Facial Paralysis Following Skull Base Surgery.

: The management of facial paralysis following skull base surgery is complex and requires multidisciplinary intervention. This review shows the experience of a facial nerve (FN) unit in a tertiary university referral center. A multidisciplinary approach has led to the breaking of some old treatment paradigms. An overview of five FN scenarios is presented. For each setting a contemporary approach is proposed in contrast to the established approach. 1) For patients with an anatomically preserved FN with no electrical response at the end of surgery for vestibular schwannoma, watchful waiting is usually advocated. In these cases, reinforcement with an interposed nerve graft is recommended. 2) In cases of epineural FN repair, with or without grafting, and a poor expected prognosis, an additional masseter-to-facial transfer is recommended. 3) FN transfer, mainly hypoglossal-to-facial and masseter-to facial, are usually chosen based on the surgeons' preference. The choice should be based on clinical factors. A combination of techniques improves the outcome in selected patients. 4) FN reconstruction following malignant tumors requires a combination of parotid and temporal bone surgery, involving different specialists. This collaboration is not always consistent. Exposure of the mastoid FN is recommended for lesions involving the stylomastoid foramen, as well as intraoperative FN reconstruction. 5) In patients with incomplete facial paralysis and a skull base tumor requiring additional surgery, consider an alternative reinnervation procedure, "take the FN out of the equation" before tumor resection. In summary, to achieve the best results in complex cases of facial paralysis, a multidisciplinary approach is recommended.

Facial paralysis: Clinical practice guideline of the Spanish Society of Otolaryngology. / Parálisis facial: guía de práctica clínica de la Sociedad Española de ORL.

Bell's palsy is the most common diagnosis associated with facial nerve weakness or paralysis. However, not all patients with facial paresis/paralysis have Bell's palsy. Other common causes include treatment of vestibular schwannoma, head and neck tumours, iatrogenic injuries, Herpes zoster, or trauma. The approach to each of these conditions varies widely. The purpose of this guideline is to provide clinicians with guidance on the treatment and monitoring of patients with different causes of facial paralysis. We intend to draft a practical guideline, focusing on operationalised recommendations deemed to be useful in the daily management of patients. This guideline was promoted by the Spanish Society of Otolaryngology and developed by a group of physicians with an interest in facial nerve disorders, including at least one physician from each Autonomous Community. In a question and answer format, it includes 56 relevant topics related to the facial nerve.

Facial nerve repair: the impact of technical variations on the final outcome.

OBJECTIVES: To analyze the outcome of facial nerve (FN) reconstruction, the impact of technical variations in different conditions and locations, and the importance of additional techniques in case of suboptimal results. STUDY DESIGN: Retrospective study. SETTING: University-based tertiary referral center. PATIENTS: Between 2001 and 2017, reconstruction of the FN was performed on 36 patients with varying underlying diseases. INTERVENTIONS: FN repair was performed by direct coaptation (n = 3) or graft interposition (n = 33). Microsurgical sutures were used in 17 patients (47%) and fibrin glue was used in all cases. Additional reinnervation techniques (hypoglossal-facial or masseter-facial transfers) were performed in five patients with poor results after initial reconstruction. MAIN OUTCOME MEASURES: FN function was evaluated using the House-Brackmann (HB) and the electronic clinician-graded facial function (eFACE) grading systems. Minimum follow-up was 12 months. RESULTS: FN reconstruction yielded improvement in 83% of patients, 21 patients (58.3%) achieving a HB grade III. The eFACE median composite, static, dynamic and synkinesis scores were 69.1, 78, 53.2, and 88.2 respectively. A tendency towards better outcome with the use of sutures was found, the difference not being significant. All patients undergoing an additional reinnervation procedure achieved a HB grade III, eFACE score being 74.8. CONCLUSIONS: FN reconstruction offers acceptable functional results in most cases. No significant differences are expected with technical variations, different locations or conditions. In patients with poor initial results, additional reinnervation techniques should be always considered. The eFACE adds substantial information to the most used HB scale.

An International Collaborative Standardizing Patient-Centered Outcome Measures in Pediatric Facial Palsy.

IMPORTANCE: Standardization of outcome measurement using a patient-centered approach in pediatric facial palsy may help aid the advancement of clinical care in this population. OBJECTIVE: To develop a standardized outcome measurement set for pediatric patients with facial palsy through an international multidisciplinary group of health care professionals, researchers, and patients and patient representatives. DESIGN, SETTING, AND PARTICIPANTS: A working group of health care experts and patient representatives (n = 21), along with external reviewers, participated in the study. Seven teleconferences were conducted over a 9-month period between December 3, 2016, and September 23, 2017, under the guidance of the International Consortium for Health Outcomes Measurement, each followed with a 2-round Delphi process to develop consensus. This process defined the scope, outcome domains, measurement tools, time points for measurements, and case-mix variables deemed essential to a standardized outcome measurement set. Each teleconference was informed by a comprehensive review of literature and through communication with patient advisory groups. Literature review of PubMed was conducted for research published between January 1, 1981, and November 30, 2016. MAIN OUTCOMES AND MEASURES: The study aim was to develop the outcomes and measures relevant to children with facial palsy as opposed to studying the effect of a particular intervention. RESULTS: The 21 members of the working group included pediatric facial palsy experts from 9 countries. The literature review identified 1628 papers, of which 395 (24.3%) were screened and 83 (5.1%) were included for qualitative evaluation. A standard set of outcome measurements was designed by the working group to allow the recording of outcomes after all forms of surgical and nonsurgical facial palsy treatments among pediatric patients of all ages. Unilateral or bilateral, congenital or acquired, permanent or temporary, and single-territory or multiterritory facial palsy can be evaluated using this standard set. Functional, appearance, psychosocial, and administrative outcomes were selected for inclusion. Clinimetric and psychometric outcome measurement tools (clinician-, patient-, and patient proxy-reported) and time points for measuring patient outcomes were established. Eighty-six independent reviews of the standard set were completed, and 34 (85%) of the 40 patients and patient representatives and 44 (96%) of the 46 health care professionals who participated in the reviews agreed that the standard set would capture the outcomes that matter most to children with facial palsy. CONCLUSIONS AND RELEVANCE: This international collaborative study produced a free standardized set of outcome measures for evaluating the quality of care provided to pediatric patients with facial palsy, allowing benchmarking of clinicians, comparison of treatment pathways, and introduction of value-based reimbursement strategies in the field of pediatric facial palsy. LEVEL OF EVIDENCE: NA.

Evolution of Patients With Immediate Complete Facial Paralysis Secondary to Acoustic Neuroma Surgery.

OBJECTIVE: To study the evolution of patients with immediate complete facial paralysis after acoustic neuroma surgery in different scenarios and assess different facial reanimations techniques. METHODS: This study included 50 patients with complete facial paralysis immediately after acoustic neuroma surgery. Data were analyzed into 4 groups according to the need and type of reconstruction of the facial nerve, either none, immediate, or on a deferred basis. All patients had intraoperative facial nerve monitoring, and facial nerve function was evaluated according the House-Brackmann (HB) scale. RESULTS: Of all patients with immediate total paralysis, no patients achieved totally normal facial function (grade I), and only 5 (10%) recovered to a grade II. For all groups included, the majority of patients (82%) achieved an acceptable final facial function (grade III HB). In this series, only 2 patients remained with a grade VI facial function. CONCLUSIONS: The possibility of recovering near normal facial function after a grade VI facial paralysis is very low. Procedures like the immediate repair of the facial nerve with an interposed donor graft may provide better facial function in patients with partially injured facial nerve. Even in cases of total section, there are other procedures that can improve the results.

Parotid gland solitary fibrous tumor with mandibular bone destruction and aggressive behavior.

INTRODUCTION: Solitary fibrous tumor is associated with serosal surfaces. Location in the salivary glands is extremely unusual. Extrathoracic tumors have an excellent prognosis associated with their benign clinical behavior. We report an aggressive and recurrent case of this tumor. We review the clinical presentation, inmunohistochemical profiles and therapeutic approaches. CASE REPORT: A 73-years-old woman presented a mass in her right parotid gland. She had a past history of right superficial parotidectomy due to a neurilemoma. FNAB and magnetic resonance were non-specific. After a tumor resection, microscopic findings were spindled tumor cells with reactivity to CD34, bcl-2 and CD99 and the tumor was diagnosed as Solitary Fibrous Tumor. The patient suffered two recurrences and the tumor had a histological aggressive behavior and a destruction of the cortical bone of the mandible adjacent to the mass. A marginal mandibulectomy with an alveolar inferior nerve lateralization was performed. CONCLUSIONS: Solitary fibrous tumor is a very rare tumor. Usually, they are benign, but occasionally they can be aggressive. Complete resection is the most important prognostic factor and no evidence supports the efficacy of any therapy different to surgery. Due to the unknown prognosis and to the small number of cases reported, a long-term follow-up is guaranteed. Key words:Solitary fibrous tumor, parotid mass, parotid gland, salivary gland, rare tumors.

Long term results of reconstruction plates in lateral mandibular defects. Revision of nine cases.

OBJECTIVE: Although microsurgical bone transplant is still the gold standard, mandibular reconstruction plates (MRP) were for several years considered a fast and safe way to restore mandibular continuity without using a bone graft. New plate designs with locking screws have been recently introduced, and these may overcome some of the complications related to previous designs. We review the results of mandibular reconstruction plates in our institution from 1991 to 1995. METHODS: The records of nine cancer patients who underwent lateral mandibular resections (with preservation of both condyle and symphysis) followed by reconstruction with a mandibular reconstruction plate, were retrospectively reviewed. Patients were treated between 1991 and 1995 with regular Synthes and Leibinger plates (without locking screws). Immediately after tumour resection, the bone defect was reconstructed with an MRP without bone grafting. Three cases required soft tissue coverage: two flaps and one buccal fat pad flap. RESULTS: There was immediate orocervical fistula in six cases, one of which required surgical closure; and late complications were common. One patient died due to distant metastasis 13 months after surgery without symptoms related to the plate. The remaining eight patients had their plates removed at between 9 and 52 months after reconstruction, due to screw loosening (four cases), plate exposure (one case), or both (three cases). CONCLUSION: Lateral mandibular reconstruction with non-locking screws and regular profile plates is no longer recommended. New plates with improved designs are currently available. Their low profile and locking screws are the usual characteristics of these new plates. More clinical experience is necessary before plate reconstruction can be recommended over microvascular bone transfer.