Anomalies Of First Branchial Cleft Research Articles

A Novel Classification System and Surgical Strategies of First Branchial Cleft Anomalies.

To define a novel classification of first branchial cleft anomalies (FBCAs) based on the relationship between lesions and the facial nerve in terms of radiographic imaging findings and to introduce the corresponding surgical managements. The clinical data were retrospectively reviewed. Novel classification was proposed according to the head-neck MRI findings and surgical records. FBCAs limited in the cartilaginous segment of external auditory canal (EAC) or superficial parotid gland capsule were classified as type A. Lesions close to the FN and(or) involved into the parotid gland with no scar formation and no previous parotidectomy were classified as type B. FBCAs adhered to the FN and(or) invaded the parotid gland with scar formation due to previous surgery were classified as type C. Appropriate surgery approaches was also described, which was correlated with classification. Fifty-one patients were included, and one patient suffered from bilateral lesions. Thirty-one, twelve, and nine lesions were classified as type A, type B, and type C FBCAs, respectively. One type A patient (1.92%) suffered from recurrence during follow-up. Temporary facial palsy (House-Brackmann II) was identified in 2 type C patients (3.85%) after surgery and recovered to normal within 2 months. One type B patient (1.92%) suffered from facial paralysis due to the FN injury and underwent facial nerve graft simultaneously. No patients with type C complained of hearing loss postoperatively. This novel classification clearly illustrates definitely relationship between lesion and the facial nerve and appropriate surgical strategies were proposed based on the novel classification. 4 Laryngoscope, 2024.

Appropriate imaging in the management of first branchial cleft anomalies

Background: First branchial cleft anomalies (FBCA) are rare clinical entities of the head and neck.The low incidence and varied presentation often result in misdiagnosis and inappropriate treatment.Correct diagnosis is essential for proper management, while an incorrect diagnosis will often lead toinadequate treatment. A good understanding of the regional anatomy and embryology can lead to anearly diagnosis and thereby effective management of FBCA. Purpose: To present how to diagnose andmanage FBCA. Case report: A case of a 6-year-old female who had an FBCA with a history of swellingand recurrent discharge from the fistula in the infra-auricular area. Complete excision of the tract wasperformed without facial nerve complication. Clinical question: What is the appropriate imaging fordiagnosis FBCA? Review method: Scoping review was done to identify the scientific evidence aboutimaging for diagnosis FBCA. Systemic searching in 4 databases (PubMed, Embase, Proquest, and Webof Science) using keywords “first branchial cleft”, “anomaly”, and “imaging”. Result: Three article wasfound relevant with the topic of imaging for diagnosis FBCA. Conclusion: Proper diagnosis of FBCAcan lead to proper management and good results. Imaging can provide an anatomical picture of eachbranchial arch anomaly, which can be very helpful in preoperative planning to determine a definitivesurgical approach. Early management of FBCA can reduce the recurrence rate significantly.Keywords: first branchial cleft, anomaly, children, imaging

First Brachial Cleft Anomalies in Children: An Innovative Surgical Technique Preventing External Auditory Canal Stenosis.

First branchial cleft anomalies (FBCAs) are rare congenital malformations that require complete surgical removal. A stenosis of the external auditory canal (EAC) may be the consequence of the disease and its treatment. The aim of this study is to present the details and results of an innovative surgical technique using part of the abnormality for reconstruction purposes. This study covered 28 surgically treated children with FCBA between 2014 and 2021. The analysis included the clinical manifestation form of the abnormality, presence of the EAC deformity, histopathological results, complications, and distant results. On the basis of Work's classification system, 15 pediatric patients with type II FBCA and 13 children with type I FBCA were included in the further study. One child with type II FBCA and two with type I FBCA had a normal EAC. The preoperative appearance of the EAC was classified into three main types, each potentially accompanied by a skin ostium of the sinus/fistula in the EAC. Reconstruction with our technique was performed in 14 children (1 with type I FBCA and 13 with type II FBCA). Wound healing was uncomplicated in all cases. No recurrences were observed. This innovative surgical technique of the subtotal resection of FBCAs with simultaneous reconstruction is safe and prevents postoperative EAC stenosis. Despite the deliberate use of part of the abnormality wall for reconstructive purposes, it remained free of recurrences.

The Treatment for Type II First Branchial Cleft Anomalies With Abnormalities Lateral to the Tympanic Membrane.

The present study aimed to introduce the surgical method for addressing type II first branchial cleft anomalies (FBCAs) in patients with visible abnormalities lateral to the tympanic membrane. Retrospective analysis. Beijing Children's Hospital of Capital Medical University from January 2016 to January 2020. We performed a retrospective analysis of data from patients with type II FBCAs with visible abnormalities lateral to the tympanic membrane. All patients underwent magnetic resonance imaging, (MRI), computed tomography (CT), and otoscopy examinations before surgery. Data regarding the patient's age, location of the opening, side affected, MRI/CT results, otoscopy findings, the relationship between the lesion and the external auditory canal (EAC), complications, and surgical procedure were recorded. 15 patients with type II FBCAs (Work's classification) were included in our study. There were 3 different types of visible abnormalities lateral to the tympanic membrane: white masses (Type A), a fibrous band between the tympanic membrane and the EAC floor (Type B), and defects in the inferior wall of the EAC (Type C). Types A and C demonstrated internal fistulas of the FBCA. The roots of the FBCA in all 3 types were deep. Endoscopy was required for complete exposure of the fistula, especially for Types A and C. Some type II FBCAs patients had visible abnormalities lateral to the tympanic membrane. Otoscope was recommended for routine examination. For these kinds of patients, combined endoscopy during surgery was helpful for reducing the recurrence rate. Level 3.

Analysis of the Clinical Features and Surgical Outcomes of First Branchial Cleft Anomalies.

To analyze the clinical features and otologic manifestations of first branchial cleft anomalies (FBCAs) and the disparity between Work's classification, and to explore the relationships between postoperative facial paralysis and features of FBCAs. Retrospective clinical study. A retrospective analysis of 109 patients with FBCAs was conducted, including clinical characteristics and otologic features. Pearson chi-square tests and Fisher's exact tests were used to compare disparity between Work's classification, and the impact factors of postoperative facial paralysis among 86 patients who were explored in follow-up. Patients with FBCAs presented with otologic symptoms, including cysts or fistula in the external auditory canal (EAC) and periauricular (43.2%), microtia (3.7%), EAC web (1.8%), otitis media (1.8%), and otorrhea (4.6%). Eighty-five cases (78.0%) were type I FBCAs and 24 (22.0%) were type II. Compared to type I FBCAs, type II (58.3%) was more likely to be located deep to the facial nerve (FN) and to have superficial parotidectomy on them (79.2%). This difference was statistically significant (P < .001). FBCAs deep to the FN had a higher incidence of postoperative facial paralysis (P < .05). The majority of patients (55.0%) had otologic symptoms. The FBCAs of Work type II was commonly deep to the FN and superficial parotidectomy was frequently performed. Postoperative facial paralysis was associated with FBCAs located deep to the FN, but not with Work's type. 4 Laryngoscope, 132:1008-1014, 2022.

Identification of potential pathogenic mutations in Chinese children with first branchial cleft anomalies detected by whole-exome sequencing.

ABSTRACTImportanceFirst branchial cleft anomalies (FBCAs) are rare congenital malformations, accounting for < 8% of all branchial cleft anomalies. However, little is currently known about the cause of FBCAs at the molecular level.ObjectiveTo identify genomic alterations related to the genetic etiology of FBCAs in Chinese children.MethodsWe performed whole‐exome sequencing of samples from 10 pediatric patients with FBCAs. Data analysis was carried out using the Burrow‐Wheeler Alignment software package, and the dbSNP database for comparisons. Rare variants were further validated by Sanger sequencing. Insertion/deletions (indels) were examined using the Genome Analysis Toolkit.ResultsWe identified 14 non‐synonymous mutations in seven potential FBCA‐susceptibility genes (TRAPPC12, NRP2, NPNT, SH3RF2, RHPN1, TENM4, and ARMCX4). We also detected 133 shared small indels in 125 genes. Gene Ontology analysis indicated that most of the identified genes played critical roles in development and differentiation pathways involved in regulating organ development.InterpretationWe characterized the mutational landscape in pathways involved in development and differentiation in Chinese children with FBCA. The results identified potential pathogenic genes and mutations related to FBCA, and provide molecular‐level support for the branchial theory of FBCA pathogenesis.

Clinical Analysis of Type II First Branchial Cleft Anomalies in Children

We aimed to analyze the clinical characteristics and introduce a new subclassification system for type II first branchial cleft anomalies (FBCAs) based on magnetic resonance imaging (MRI) findings. Retrospective cases study. We conducted an analysis of data from patients with type II FBCAs. MRI findings were used to categorize FBCAs into three subtypes. FBCAs located between the subcutaneous tissue and parotid were classified as type IIa. FBCAs located between the deep and superficial lobes of the parotid were classified as type IIb. FBCAs located between the parotid and the carotid sheath were classified as type IIc. Patients with type II FBCAs were classified as type IIa, IIb, and IIc in 14, 14, and seven cases, respectively. Type IIa lesions exhibited a close relationship with the facial nerve in 42.9% of cases. In these cases, the main trunk of the facial nerve adhered to the lesion and was located superficially to the FBCA. In all patients with type IIb lesions, the main trunk and marginal mandibular branch of the facial nerve adhered to the lesion. The main trunk of the facial nerve adhered to the lesion in one patient with a type IIc. There was no relationship between the lesion and the facial nerve in the remaining type IIc cases. MRI can be used to identify the locations of FBCA and the parotid, which can aid surgeons in predicting the relationship between the lesion and the facial nerve. It is feasible to classify type II FBCAs into three subtypes based on MRI. 4 Laryngoscope, 131:916-920, 2021.

Morphology and Clinical Presentation of Duplicate External Auditory Canal-Literature Review

First branchial cleft anomalies (FBCA) such as duplication of the external auditory canal are due to failure to obliterate the ventral portion of the 1st cleft while external auditory canal stenosis and atresia are abnormalities of the dorsal portion.The annual incidence is 1:1000,000 and it’s been found to be commoner among females 69% than males 31% with the left ear most affected.FBCA can present as fistula, sinus or cysts located around/along the EAC, periauricular region and the neck above the hyoid bone. Keywords : Duplicate External auditory canal,First branchial anomaly,auditory canal stenosis DOI : 10.7176/JHMN/64-04 Publication date :July 31 st 2019

First branchial cleft anomalies in children: Experience with 30 cases.

First branchial cleft anomalies (FBCA) are rare in the clinical setting, as they account for 1 to 8% of all branchial abnormalities. The purpose of this study is to explore the relationship between the fistula tract and facial nerve and the surgical method of FBCA. This retrospective study included 30 cases of FBCA in children managed from 2009 to 2016. All patients underwent surgery to remove the tract of the FBCA. We reviewed the clinical data of the patients to obtain their demographics and management. Thirty patients (11 male and 19 female) with anomalies of FBCA were diagnosed. The ages ranged from 1 to 13 years (median, 3 years). Twenty cases had a close relationship with the parotid gland. The facial nerve was identified in 20 of the 30 patients. The tract ran deep to the facial nerve in 3 cases, superficial to it in 21 cases, and passed between the branches of the nerve in 6 cases. The facial nerve was not identified in ten patients, as the tract was superficial to it. There were 2 cases of postoperative temporary facial paralysis (2/30, 6.7%). The symptoms gradually improved after one month, 1 case had permanent facial paralysis (1/30, 3.3%), and 1 case had postoperative recurrence. Complete excision of the tract is the only way to manage FBCA, and the course of the tracts vary and have different relationships with the facial nerve. There are 3 types: Superficial, deep to the facial nerve, and between the branches of the nerve. Therefore, surgical approaches differ among the various types, and careful preoperative planning and protecting the facial nerve during resection of the tract are essential.

First Branchial Cleft Anomaly: Clinical Insight into its Relevance in Otolaryngology with Pediatric Considerations

First branchial cleft anomalies (FBCA) represent a small subset of congenital malformations in neck. Prime objective of this study is to share our experience with FBCA, emphasize its relevance in otolaryngology and deal with its pediatric perspective. Embryology, pathologic anatomy and varied spectra of clinical presentations of FBCA are discussed. Along with this we have illustrated three different cases; all of them were of pediatric age group and were misdiagnosed by their treating specialists elsewhere. In this article we have also laid special emphasis on its pediatric considerations. FBCA are mostly misdiagnosed due to their unfamiliar clinical signs and symptoms. Swellings may masquerade as other neck masses. Majority of patients give a history of previous incision and drainage. While dealing with pediatric patients the important factors to be kept in mind are the age of child, superficial course of facial nerve, any associated agenesis of parotid gland. Alteration in surgical technique may be required in children. A thorough medical examination with high index of clinical suspicion should be kept in mind while dealing with such anomalies. Owing to their complex presentation and close relation with facial nerve they are challenging lesions for surgeons.

第１し裂由来と思われるし嚢胞の１例 成因ならびに文献的考察

Anomalies of first branchial cleft are rare lesions that were classified as two types by Work. Type I incorporates ectodermal elements from the first branchial cleft only. Type if incorporates ectodermal elements from the first branchial cleft and mesodermal elements from the first and second branchial arches.We experienced a Type II anomaly of first branchial cleft occurring in an 8-month-old infant. The sinus was located anterior to the right sternocleidomastoid muscle and opened at the right submandibular region through a fistulous tract. Histopathologically the sinus and tract wall was lined by keratinized squamous epithelium with adenexal skin structures and cartilage components. However, we also observed peudostratified ciliated epithelium with lymphoid tissue in part of sinus and tract wall. This finding suggested that this anomaly originated from not only first branchial cleft but second branchial cleft.