Novel GNAI3 mutation in a Chinese family with auriculocondylar syndrome and treatment of severe dentofacial deformities: a 5-year follow-up case report.

BACKGROUND: Auriculocondylar syndrome (ARCND) is an extremely rare autosomal dominant or recessive condition that typically manifests as question mark ears (QMEs), mandibular condyle hypoplasia, and micrognathia. Severe dental and maxillofacial malformations present considerable challenges in patients' lives and clinical treatment. Currently, only a few ARCND cases have been reported worldwide, but most of them are related to genetic mutations, clinical symptoms, and ear correction; there are few reports concerning the treatment of dentofacial deformities. CASE PRESENTATION: Here, we report a rare case of ARCND in a Chinese family. A novel insertional mutation in the guanine nucleotide-binding protein alpha-inhibiting activity polypeptide 3 (GNAI3) was identified in the patient and their brother using whole-exome sequencing. After a multidisciplinary consultation and examination, sequential orthodontic treatment and craniofacial surgery, including distraction osteogenesis and orthognathic surgery, were performed using three-dimensional (3D) digital technology to treat the patient's dentofacial deformity. A good prognosis was achieved at the 5-year follow-up, and the patient returned to normal life. CONCLUSIONS: ARCND is a monogenic and rare condition that can be diagnosed based on its clinical triad of core features. Molecular diagnosis plays a crucial role in the diagnosis of patients with inconspicuous clinical features. We present a novel insertion variation in GNAI3, which was identified in exon 2 of chromosome 110116384 in a Chinese family. Sequential therapy with preoperative orthodontic treatment combined with distraction osteogenesis and orthognathic surgery guided by 3D digital technology may be a practical and effective method for treating ARCND.

Patulous eustachian tube after balloon eustachian tuboplasty in a post-radiation patient.

BACKGROUND: Balloon eustachian tuboplasty (BET) is a minimally invasive surgical treatment that is effective and safe for obstructive eustachian tube dysfunction. However, BET complications include excessive widening of the eustachian tube, causing a patulous eustachian tube (PET). Herein, we report a case of PET following BET in a patient who underwent radiation therapy and reviewed the literature on considerations for reducing complications after BET. CASE PRESENTATION: A 63-year-old woman complained of bilateral ear fullness after concurrent chemoradiation therapy for nasopharyngeal lymphoma. BET was performed on the left side because the left-sided serous otitis media persisted. A left-sided PET was performed two weeks after the BET, along with eustachian tube silicone plug insertion on the left side. The patient became asymptomatic immediately after the surgery, with no recurrence reported after a 12-month follow-up period. CONCLUSIONS: To our knowledge, there has been no report of PET following BET in a post-radiation patient, and it was successfully treated via ET silicone plug insertion.

Hydroxyapatite bone cement in the reconstruction of defects of the long process of the incus: Personal experience and literature review.

OBJECTIVE: Erosion of the long process of the incus is the most common ossicular chain pathology occurring in the course of chronic middle ear disease. The aim of this study was to evaluate our experience in the reconstruction of short-length defects of the long process of the incus using hydroxyapatite bone cement over a period of 15 years. METHODS: The medical records of all patients treated with hydroxyapatite bone cement for an isolated short-length erosion of the long process of the incus or the lenticular process at an academic tertiary referral center between 2005 and 2019 were studied retrospectively. RESULTS: 48 patients made up our study sample (19 men, 29 women). The mean age at the time of surgery was 38.1 years. The mean preoperative air-bone gap (ABG) was 21.36 dB. The mean postoperative ABG was 15.89 dB within 8 weeks of surgery and 11.81 dB at least 6 months after surgery. The postoperative ABG had significantly improved compared to preoperative ABG values at both the short- and middle-term follow-up (p < 0.001 for both). An ABG ≤ 20 dB was achieved in 68% in the short term and 83% in the middle term. The mean ABG in the long term (< 12 months) was 11.1 dB. CONCLUSION: Restoration of the anatomic and functional continuity of the ossicular chain using hydroxyapatite cement in defects of the long process of the incus seems to warrant a satisfactory audiologic outcome in the majority of cases.

Use of Thermoplastic Splint for the Treatment of Auricular Hematoma.

Auricular hematoma is commonly seen in ear nose and throat clinical practice and mostly caused by blunt trauma as a result of traffic accident, wrestling, boxing etc. If hematoma does not discharge, blood supply of the cartilage fails and this results with the necrosis of the auricular cartilage. Incision and drainage of the hematoma is the cornerstone of the surgical treatment and simple compression methods are limited in terms of their ability to eliminate the empty space. Various techniques have been described for the elimination of the death space such as; dental rolls, cotton bolsters, buttons, silastic sheets, etc but compression materials may be insufficient to apply this pressure because of irregular shape of auricle. Resolving these problems, the authors have used thermoplastic splint as a compressive material at 7 patients for elimination of the death space in auricular hematoma treatment.

Malignant otitis externa in a healthy non-diabetic patient.

A healthy 60-year-old male was initially treated for external otitis, and subsequently received multiple surgeries including abscess drainage, temporal bone debridement, canaloplasty of the external auditory meatus, and fistula excision and was treated with numerous antibiotics at another hospital over a 1-year period. He was seen at our hospital on February 14, 2014 with a complaint of a non-healing wound behind the left ear and drainage of purulent fluid. He had no history of diabetes mellitus or compromised immune function. Computed tomography (CT) and magnetic resonance imaging (MRI) studies at our hospital showed osteomyelitis involving the left temporal, occipital, and sphenoid bones, the mandible, and an epidural abscess. Routine blood testing and tests of immune function were normal, and no evidence of other infectious processes was found. He was diagnosed with malignant otitis externa (MOE). Bone debridement and incision and drainage of the epidural abscess were performed, and vancomycin was administered because culture results revealed Corynebacterium jeikeium, Corynebacterium xerosis, and Enterococcus faecalis. MOE should be considered in healthy patients with external otitis who fail initial treatment.

The Partnership of Medical Genetics and Oral and Maxillofacial Surgery When Evaluating Craniofacial Anomalies.

A medical geneticist who has an interest in craniofacial anomalies forms a natural partnership with an oral and maxillofacial surgeon, which facilitates patient care. Using complementary diagnostic and therapeutic skills, the search for a recognizable pattern can lead to a syndrome diagnosis. After the initial examination, there is usually genetic testing to confirm the clinical diagnosis. Once established, care coordination and genetic counseling can be provided for the parents and the patient. Enrolling the patient into a research study could be helpful to understand the diagnosis but, in some circumstances, might not have immediate clinical relevance. A multidisciplinary craniofacial team is generally necessary for long-term management. This article discusses illustrative patients evaluated from 2007 through 2011 with the senior oral and maxillofacial surgeon at the Massachusetts General Hospital (Leonard B. Kaban, DMD, MD). These include single patients with the Nablus mask-like facies syndrome and auriculo-condylar syndrome and a series of 20 patients with Gorlin syndrome followed by a multispecialty team. A successful collaboration between a medical geneticist and an oral and maxillofacial surgeon optimizes the treatment of patients with craniofacial anomalies.

Outcome of Otologic Symptoms after Temporomandibular Joint Arthrocentesis.

The objectives of this study were to determine the prevalence of otologic complaints in patients with temporomandibular joint (TMJ) closed lock (CL), and to evaluate the efficacy of arthrocentesis in temporomandibular disorder (TMD) patients with otologic symptoms. Fifty-seven patients with TMJ CL were included in this study. The pre-treatment evaluations included assessment of the maximum mouth opening (MMO); pain level in palpation of the affected TMJ; pain level with function; and otologic complaints, including otalgia, tinnitus, vertigo, and hearing loss. Arthrocentesis treatment was performed for all the patients, and post-treatment data were recorded 1 month later. Before arthrocentesis and lavage, the mean MMO was 24.67 ± 4.61 mm; the mean tenderness score was 7.02 ± 1.09; and the mean score for pain in function was 6.86 ± 1.31. Following TMJ arthrocentesis and lavage, the mean MMO was 39.81 mm ± 4.56 mm; the mean tenderness score was 2.37 ± 0.65; and the mean score for pain in function was 2.45 ± 0.69. Seventeen (29.82%) patients reported at least 1 otologic complaint, 17 (29.82%) patients reported otalgia, and 8 (14.04%) patients reported tinnitus. Vertigo was noted in 5 (8.77%) patients. Complaints of hearing loss were not noted in any of the patients. After treatment, 14 patients no longer complained of otalgia, 5 patients no longer complained of tinnitus, and 2 patients no longer complained of vertigo. This represented a significant improvement in the patients' condition, especially in patients with otalgia (P < 0.0006). As evident from the results of this study, arthrocentesis procedures reduce both TMD symptoms and otologic complaints.

A new technique using fibrin glue in the management of auricular hematoma.

: This study aims to describe a new technique for the management of auricular hematoma using fibrin glue. Five difficult cases of auricular hematoma were managed using this technique, including 2 recurrent and 3 delayed presentations. After skin preparation and local anesthetic, an incision was made, the hematoma was evacuated, and the cavity was washed out with saline. Fibrin glue was applied liberally; a dental roll pressure dressing was applied and secured with a prolene bead suture. The patients were given a course of oral antibiotic and reviewed after 5 days for removal of the external dressing. They were later assessed to exclude re-accumulation of the hematoma. All patients had complete resolution of the hematoma without re-accumulation; they were satisfied with the cosmetic results and experienced no complications. This case series provides evidence that fibrin glue is effective in the management of auricular hematoma. Larger studies may provide further evidence of the effectiveness of this new technique.

Partial auricular reconstruction with porous polyethylene frameworks and superficial temporoparietal fascia flap.

Untreated acquired auricular damage can be a psychological burden, especially for younger patients. The significance of auricular reconstruction in patients with microtia in terms of quality of life has already been demonstrated. In these patients the use of porous polyethylene combined with a temporoparietal fascia flap has proven to be a suitable method for achieving good cosmetic results. Here, we describe how to use porous polyethylene combined with an endoscopically harvested temporoparietal fascia flap and autologous skin grafts for the reconstruction of acquired partial auricle defects and present outcomes and patient benefit. Ten consecutive patients were asked to answer validated questionnaires [modified Glasgow Benefit Inventory (GBI)] determining the effects of partial ear reconstruction on their health-related quality of life. These patients were seen regularly in our outpatient clinic for documentation and postoperative counseling. All patients returned a valid questionnaire; 80% were satisfied with the esthetic result. In retrospect, all patients would again decide to undergo surgery. The mean total GBI score was 27.8 (median 29.2, p < 0.05) reflecting an improvement of the health-related quality of life due to the operation. Odd feeling, numbness and the formation of scar tissue were the main complaints. Partial auricular reconstruction using porous polyethylene combined with an endoscopically harvested temporoparietal fascia flap and autologous skin grafts yields good esthetic results and can significantly increase patient's health-related quality of life.

Avoiding complications of microtia and otoplasty.

Congenital ear surgery constitutes one of the most challenging reconstructive procedures in plastic surgery secondary to the complex architecture of the auricle and the multiple factors involved in the reconstructive techniques. The most common complications encountered during microtia repair and otoplasty are described. Emphasis is placed on preventing these complications.

[Bilateral bisphosphonate-associated osteonecrosis of the external ear canal : a rare case]. / Beidseitige bisphosphonatassoziierte Osteonekrose des Gehörgangs : Ein seltener Fall.

Osteonecrosis of the mandible is a well-known and dreaded complication after the administration of bisphosphonates. Only a few cases of bisphosphonate-associated osteonecrosis of the external ear canal have been described. Especially after long-lasting bisphosphonate therapy, for example in patients with multiple myeloma, an ulceration of the floor of the bony external auditory canal should be treated surgically and be distinguished from radioosteonecrosis, malignant external otitis, or carcinoma of the external ear.

[Ossiculoplasty with hydroxyapatite bone cement]. / Apport du ciment d'hydroxyapatite en ossiculoplastie.

OBJECTIVE: To analyze the results obtained with hydroxyapatite bone cement (HABC). PATIENTS: A total of 73 ossiculoplasties with HABC were evaluated. Ears were divided into 4 groups: Group 1: Reinforcement of the incudo-stapedial joint with HABC; Group 2: Reconstruction of an incus long process defect with HABC; Group 3: Partial ossicular reconstruction between stapes and malleus handle with HABC; Group 4: Reconstruction of stapes with mobile or fixed footplate with moderate or extensive incus long process erosion using a titanium piston glued to the incus remnant using HABC. RESULTS: The mean follow-up was 21 months. The percentage of postoperative average air-bone gap (ABG) < or = 20 dB for groups 1, 2, 3 and 4 were 100%, 95%, 83% and 91% respectively; for ABG < or = 10 dB: 90%, 71%, 50% and 50%. No complications related to HABC and extrusion occurred. CONCLUSION: Today, the use of HABC seems to help us improve our functional results and also to avoid extrusion. In our experience, ossiculoplastie with HABC seems to provide better and more stable functional results. HABC is safe and easy to use. The use of cement with or without biocompatible ossicular prostheses allows us to repair different types of ossicular defects whilst trying to conserve an anatomical and physiological ossicular chain. Reconstruction of the incus long process or incudo-stapedial joint defect with cement is preferable rather than using partial ossicular reconstruction with HABC.

Ear magnetic discs to prevent cauliflower ear: a case gone wrong.

We present a case of pinna pressure necrosis secondary to the use of ear magnetic discs, used in the management of auricular haematoma. A man in his 20s sustained a left auricular haematoma while wrestling. His coach aspirated the haematoma and advised the use of commercially available compression magnets on either side of the pinna to prevent haematoma reaccumulation. 5 days later, he presented to accident and emergency with left ear pain and swelling. Perichondritis was evident on examination and the compression magnets were removed to reveal significant pressure necrosis of the pinna. The skin underlying the placement of magnets (both anteriorly and posteriorly) was black and necrosed, with erosion of the underlying cartilage. In addition to this, the haematoma had reaccumulated in the surrounding pinna. The haematoma was drained via an incision, and pressure dressing applied with dental rolls. The patient was given a course of oral antibiotics to manage the perichondritis. He was reviewed regularly in the ear, nose and throat emergency clinic to monitor wound healing. 3 months later, he was reviewed in the otology clinic; there was persistent helical rim deformity, and delayed cartilage augmentation was advised.This case highlights the importance of prompt and effective management of auricular haematoma, to prevent long-term deformity. Commercially available pinna magnets for auricular haematoma should be used with caution, and patients should be counselled as such.

Sacrifice of the chorda tympani nerve during middle-ear surgery can lead to resolution of dysgeusia.

BACKGROUND: Cholesteatoma often presents with persistent otorrhoea, conductive hearing loss or vestibular dysfunction. Rarely, cholesteatoma can cause dysgeusia if the lesion invades into the chorda tympani nerve. This paper presents an individual with cholesteatoma whose dysgeusia resolved following a mastoidectomy in which the chorda tympani was sacrificed. The current literature was reviewed for explanations behind this phenomenon. CASE REPORT: A previously fit 57-year-old man presented with a 3-month history of persistent otorrhoea and the complaint of a metallic taste in the mouth, and was diagnosed with cholesteatoma. The patient underwent radical mastoidectomy and the chorda tympani nerve was sacrificed. On post-operative review, he reported complete resolution of dysgeusia. CONCLUSION: The sense of taste is mediated by a complex neural network. It is possible that once the diseased chorda tympani is transected, compensation arises from other parts of the network. Sectioning of the chorda tympani could lead to a beneficial outcome in selected patients.

First Clinical Experience of Tungsten Rubber Electron Adaptive Therapy With Real-time Variable-shape Tungsten Rubber.

BACKGROUND/AIM: We investigated the dosimetric characteristics of electron radiotherapy for auricular keloid using real-time variable-shape tungsten rubber (STR). PATIENTS AND METHODS: For the first evaluation, STR was shaped into a rectangular irradiation field (3.0×5.0 cm2). In the next step, the STR was reshaped to fit the target (3.5×6.5 cm2) for the second evaluation. Percentage depth doses (PDDs) and lateral dose profiles were obtained with 6-MeV electron beams and compared with those of low-melting-point lead (LML). RESULTS: Compared to the LML on electron applicator, PDD differences were within 0.4 mm, while the penumbras as width of 20-80% dose levels were smaller (maximum reductions: 75.8% and 82.9% at first and second evaluations, respectively). The treatment process of shaping the STR, decision on output, and irradiation was completed within 45 min. CONCLUSION: Electron radiotherapy using STR for keloid can be performed with excellent dose distribution in a short time. First clinical experience found the STR is suitable for use in individualized and immediate electron radiotherapy.

Therapeutic hotline: An alternative adjuvant treatment after ear keloid excision using a custom-made methyl methacrylate stent.

The efficacy of most pressure devices developed for treatment of ear keloids is limited by the insufficient control of the applied pressure, sometimes causing pain and repeated bleeding with a subsequently increased risk of infections and cosmetic problems. The present study aims to describe the efficacy of the custom-made methyl methacrylate stent in patients that were surgically treated for ear keloids and afterward underwent pressure therapy. The recurrence rate of the ear keloids was evaluated after at least 12 months. Adjuvant treatment with the methyl methacrylate stent resulted in an 83% success rate in our experience with 23 patients that completed the intended therapeutic duration of 18 months. No cases of severe complications were seen during or after the treatment. Furthermore, all the items of the Patient and Observer Scar Assessment Scale resulted in a statistically significant improvement of the scar (p < 0.05). Postoperative pressure therapy with the custom-made methyl methacrylate stent seems efficacious, safe, and is usable for keloids of both the helix and the earlobe.

Ear reconstruction using a porous polyethylene framework and temporoparietal fascia flap.

Ear reconstruction is a difficult procedure requiring a framework and soft tissue covering. The traditional method uses a rib cartilage framework placed beneath scalp skin. This method has been used for 50 years despite inherent problems with both harvesting rib cartilage and using scalp for coverage. The authors describe a method using a porous polyethylene (PPE) framework covered by a large temporoparietal fascia (TFP) flap raised with the underlying subgaleal fascia (SGF). The entire implant is covered by the two-layered flap, which can be raised without any scalp incision. The skin grafts applied to the covered implant lie on the SGF. The trilaminar structure of the SGF allows the skin to move independently over the implant, resisting shear forces and reducing the probability of implant exposure. Ear reconstruction using the PPE framework was performed on 786 ears over an 18-year period. Initial complications were common. With improved implant design and complete coverage of the implant with both the TPF and SGF, exposure rate dropped to 7% with a 12-year follow-up. Implant fractures decreased to less than 3%. The PPE/TPF method allows earlier ear reconstruction in children with minimal scarring and discomfort. The reconstructed ear can closely mimic the shape and projection of the natural contralateral ear in fewer stages and with a shorter learning curve.

Prosthodontic management of maxillofacial cases: a case series.

Maxillofacial prosthetics is an important and recognized sub-discipline of prosthodontics that forms a key component of postgraduate training programmes. General dentists have a role to play in the management of maxillofacial defect patients even though treatment usually requires a multidisciplinary approach in an institutional environment. Maxillofacial prosthetic cases frequently present with complex histories but simple patient goals. The conservatively managed implant-retained auricular prosthesis, speech aid prosthesis and orbital prosthesis cases described in this report were completed in a postgraduate clinical residency program and highlight the intrinsic complexities, challenges and ultimately satisfaction related to cases of this nature.

Histological evaluation of novel ossicular chain replacement prostheses: an animal study in rabbits.

CONCLUSION: The improved biocompatibility of Bioverit II coated with a nanostructured surface shows promising qualities for use in human reconstructive middle ear surgery. In the case of chitosan-hydroxyapatite composite prostheses, further investigations regarding composition of the material, degree of purity and design are necessary before clinical application. OBJECTIVE: The selection of optimal materials for reconstructive middle ear surgery continues to be a problem. In the present study novel materials were tested as total ossicular replacement prostheses (TORPs) in an animal model. MATERIALS AND METHODS: Bioverit II coated with a nanostructured surface and chitosan-hydroxyapatite composites were placed in the middle ear of 40 rabbits. Uncoated Bioverit II was used as control. After an implantation period of 28, 84 or 300 days petrous bones were extracted, embedded in epoxy resin and examined by light microscopy. RESULTS: Uncoated and coated Bioverit prostheses revealed a mucosal coverage and a little osseogenic response after 28 days. The results of the coated Bioverit prostheses slightly surpassed those of the plain prostheses. Chitosan-hydroxyapatite composite prostheses were mostly found to be dislocated after 28 days. Formations of granulation tissue and fibrotic capsules were observed around these implants. This reaction could be caused by the instability of the composite material or may be due to impurities present in the chitosan.