OBJECTIVE: Balloon dilation of the cartilaginous portion of the Eustachian tube has increasingly gained acceptance among otolaryngologists in the treatment of obstructive Eustachian tube dysfunction. There is however little data on the procedure performed in children. The purpose of this study is to review the recent developments regarding balloon dilation in pediatric patients.
RESULTS: Balloon dilation of the Eustachian tube is safe in pediatric patients. The effects of the procedure are durable during long term follow-up. Diagnosing obstructive dysfunction remains challenging. There is no single test or questionnaire for diagnosing the condition; instead a series of appropriate tests should be used. The pediatric Eustachian tube is very responsive to the effects of balloon dilation. While the treatment is effective, overtreatment can have unwanted results such as patulous symptoms. Reducing the time of dilation should therefore be considered.
CONCLUSIONS: Otolaryngologists performing the procedure should be familiar with the effects of balloon dilation on the pediatric Eustachian tube and consider altering the duration of dilation accordingly. Further studies are needed especially regarding patient selection, optimal age for dilation and balloon parameters for pediatrics (e.g. dimensions, inflation duration, inflation pressure).

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.
METHODS: 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.

BACKGROUND: Red Ear Syndrome is a burning sensation and erythema of the ear, associated with a various number of disorders including migraine, trigeminal neuralgia, autoimmune disorders etc. Theories for RES pathophysiology have developed from current understandings of comorbid conditions. Characterizing the underlying mechanism of RES is crucial for defining effective treatments.
METHODS: Three caucasian patients, ages 15, 47, and 67 years, with migraine, one with erythromelalgia are reported in this manuscript. RES pathophysiology is not fully understood due to its variable clinical presentation and numerous comorbid conditions, making it difficult to identify effective treatments.
CONCLUSIONS: RES seems to be largely treatment-resistant, and most options involve treating the associated disorders and minimizing pain. Further investigation of future cases should lead to a more comprehensive understanding of the fundamental cause of RES and, hopefully, successful treatments.

暂无摘要。

BACKGROUND: Auriculocondylar syndrome (ARCND) is a rare congenital craniofacial developmental malformation syndrome of the first and second pharyngeal arches with external ear malformation at the junction between the lobe and helix, micromaxillary malformation, and mandibular condylar hypoplasia. Four subtypes of ARCND have been described so far, that is, ARCND1 (OMIM # 602483), ARCND2 (ARCND2A, OMIM # 614669; ARCND2B, OMIM # 620458), ARCND3 (OMIM # 615706), and ARCND4 (OMIM # 620457).
METHODS: This study reports a case of ARCND2 resulting from a novel pathogenic variant in the PLCB4 gene, and summarizes PLCB4 gene mutation sites and phenotypes of ARCND2.
RESULTS: The proband, a 5-day-old male neonate, was referred to our hospital for respiratory distress. Micrognathia, microstomia, distinctive question mark ears, as well as mandibular condyle hypoplasia were identified. Trio-based whole-exome sequencing identified a novel missense variant of NM_001377142.1:c.1928C>T (NP_001364071.1:p.Ser643Phe) in the PLCB4 gene, which was predicted to impair the local structural stability with a result that the protein function might be affected. From a review of the literature, only 36 patients with PLCB4 gene mutations were retrieved.
CONCLUSIONS: As with other studies examining familial cases of ARCND2, incomplete penetrance and variable expressivity were observed within different families\' heterozygous mutations in PLCB4 gene. Although, motor and intellectual development are in the normal range in the vast majority of patients with ARCND2, long-term follow-up and assessment are still required.

External Auditory Canal Cholesteatomas (EACC), is an exceptionally rare condition with a prevalence of only 0.1-0.5% among new patients1. EACC are known to possess bone eroding properties, causing a variety of complications, similar to the better-known attic cholesteatomas. We describe here the novel surgical management of a case of EACC. She is 38-year-old female who presented with otorrhea for 6 months. Clinical examination and radiological investigations suggested the diagnosis of an external auditory canal cholesteatoma. The patient underwent modified radical mastoidectomy with type 1 tympanoplasty with meatoplasty. Post-operatively, the patient showed marked clinical improvement.

A 48-year-old man presented with a chief complaint of intermittent right ear otorrhea of several-month duration, occasional otalgia and progressive unilateral hearing impairment. He also reported frequent episodes of headache and pressure in the sinuses and maxilla. Previous systemic treatment with antibiotics failed to alleviate the symptoms. A head/neck CT showed completely normal mastoid, middle ear and external auditory canal regions without any evidence of opacification or bone erosion. Otoscopic examination of the right ear disclosed aggregates of dried, brown, fibrillar material and debris occluding the external auditory canal and obstructing the otherwise intact tympanic membrane. Dilation of the external auditory canal or thickening of the tympanic membrane were not appreciated. The canal was debrided and the fibrillar material was placed in formalin. Histopathologic examination revealed numerous branching, septated fungal hyphae organized in densely-packed clusters. In other areas, the fungal hyphae abutted or were attached to lamellated collections of orthokeratin. As highlighted by GMS staining, the fungi were morphologically compatible with Aspergillus species. The clinicopathologic findings supported a diagnosis of fungal otitis externa, while the numerous anucleate squamous cells were compatible with colonization of an underlying, probably developing, cholesteatoma. Culture of material isolated from the external auditory canal confirmed the presence of Aspergillus flavus. In this illustrative case, we present the main clinical and microscopic characteristics of Aspergillus-related otomycosis developing in the setting of a tautochronous cholesteatoma.

暂无摘要。

We report a case of primary bilateral tuberculous otitis media in a patient who underwent kidney transplantation. This case presents unusual clinical features and histopathology from those of classical tuberculous otitis media. A 75-year-old woman presented at the clinic with purulent ear discharge and hearing loss in both ears. She had undergone kidney transplantation 6 years prior and had been taking immunosuppressant medications. Otoscopic examination and imaging studies suggested acute otitis media, which was irresponsive to antibiotics. The patient underwent surgery to eradicate the disease, and histopathologic examination revealed multifocal granulomas with Langhans giant cells without caseous changes. Ziehl-Neelsen staining and polymerase chain reaction confirmed the diagnosis of tuberculous otitis media. While tuberculous otitis media is a very rare manifestation of extrapulmonary tuberculosis, this case is more noteworthy in that it occurred as a primary infection rather than as a reactivation of a prior infection. In addition, it did not show the classical triad of clinical manifestations, which occurred bilaterally, and its histopathology was different from those of classical tuberculous otitis media. This case presents a new clinical variation in tuberculous otitis media.

UNASSIGNED: Red Ear Syndrome (RES) is a condition often considered to be a localized form of erythromelalgia. It can be related to structural cervical defects or idiopathic. RES is generally very difficult to treat.
UNASSIGNED: A 57-year-old male presented to the dermatology clinic complaining of a 4-month history of intermittent redness and severe burning of bilateral ears. On examination, the patient exhibited edematous erythema and tenderness to palpation affecting the right and left ear and right malar cheek. A skin biopsy revealed mild superficial perivascular lymphocytic infiltrate with hypertrophy of endothelial cells. The patient was found to have a normal lab work-up including complete blood count, metabolic panel, erythrocyte sedimentation rate, anti-nuclear antibody and type II collagen antibody. A diagnosis of Red Ear Syndrome was made. After failing multiple medications over several months, the patient was started on aspirin and paroxetine which was gradually titrated until he was completely asymptomatic. To date, there is only one other case presentation illustrating the effectiveness of this treatment regimen.
UNASSIGNED: There are a limited number of cases describing idiopathic RES with inconsistent results in treatment. With a relatively small number of cases reported, further research is needed into the pathophysiology of RES along with the dual therapy of aspirin and paroxetine in patients that suffer from both primary and secondary RES.