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

OBJECTIVE: 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. METHODS: 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. RESULTS: 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. CONCLUSION: This novel classification clearly illustrates definitely relationship between lesion and the facial nerve and appropriate surgical strategies were proposed based on the novel classification. LEVEL OF EVIDENCE: 4 Laryngoscope, 2024.

Perplexing First Branchialcleft Anomalies-A Case Series with Review of Literature.

Incomplete obliteration of the branchial apparatus results in the formation of branchial cleft anomalies. First branchial cleft anomalies may persist anywhere in the first branchial arch, from the external auditory canal at the level of the bony cartilaginous junction to the submandibular triangle. The majority of cases present in childhood as an opening in the skin though they may present as cysts or neck masses, mostly mistaken for neck abscesses which leads to inadequate treatment and complications. Here different cases of first branchial cleft anomalies with variable presentation and treatment are illustrated. The need for proper diagnosis and adequate treatment cannot be overemphasized to avoid mismanagement and complications.

Clinical manifestations, diagnosis, and management of first branchial cleft fistula: Case series and review of the literature.

INTRODUCTION AND IMPORTANCE: The first branchial cleft (FBC) is an extremely rare occurrence, manifesting as cysts, sinuses or fistula. Among all branchial anomalies, FBC represents 8-10 % of branchial clefts. It accounts for about 17 % of all cervical masses in childhood. FBC can be caused by inadequate removal or closure of the ectoderm. The location of the fistula can be adequately determined by magnetic resonance imaging (MRI). CASE SERIES PRESENTATION: We report three cases from the first branchial cleft fistula (FBCF) in our ENT Department with a good response to surgical treatment. Patients had an average of 24 months of follow-up. The aim of our study is to study the clinical manifestations, the diagnosis and the surgical management of the FBCF. DISCUSSION: An in-depth knowledge of the embryology of the neck and face will ensure early diagnosis and complete surgical resection of FBCFs, which will minimize the risk of severe complications including facial paralysis. CONCLUSION: FBC is rare and may present as a cyst or fistula. It is managed by surgical excision, leaving the tract cyst of the fistula intact with preservation of the facial nerve.

Reworking Classification of First Branchial Cleft Anomalies.

OBJECTIVES: To evaluate the clinical features of first branchial cleft anomalies (BCAs) and their relationship to pre-operative imaging, pathologic data, and post-operative surveillance outcomes. Additional aims were to assess the validity of the Work classification and describe features of recurrent cysts. METHODS: Records for 56 children (34 females, 22 males; age at surgery of 5.6 ± 4.4 years) collected over a 12-year period (2009-2021) were reviewed. Imaging and pathologic slides were re-reviewed in a blinded fashion by experts in those respective areas. Parents were contacted via telephone to obtain extended follow-up. An alternate classification method based on the presence (type II) or absence (type I) of parotid involvement is provided. RESULTS: Only 55% of first BCAs could be successfully classified using Work's method. First BCAs within the parotid were more likely to present with recurrent infections, involve scarred tissue planes and lymphadenopathy, and demonstrate enlarged lymphoid follicles on pathology. The overall recurrence rate was 16%, and recurrence was 5.3 times more likely when external auditory canal cartilage was not resected. Preoperative imaging was useful for predicting the extent of surgery required and the presence of scarred tissue planes. CONCLUSION: First BCAs within the parotid gland involve more difficult and extensive surgical resection and the potential for morbidity related to facial nerve dissection. Appropriately aggressive surgical resection, which may include the resection of involved ear cartilage, is necessary to prevent morbidity related to recurrence. LEVEL OF EVIDENCE: 4 Laryngoscope, 134:459-465, 2024.

The Role of Ipsilateral Tonsillectomy in the Extirpation of Branchial Cleft Anomalies- A Retrospective Monocentric Analysis Over 13 Years.

Backround: Branchial cleft anomalies (BCA) can occur as sinuses, fistulas or cysts. They arise from the first, second, third or fourth pharyngeal cleft due to non-fusion or subinvolution. Mostly, located in Robbin's neck-level II, BCA clinically present as a painless compressible swelling, cutaneous draining sinus, or fistula. Aims: Surgical treatment is the gold standard to prevent recurrence in BCA, though the necessity of ipsilateral tonsillectomy is discussed and was being examined within this work. Methods: In retrospect, data was collected from patients, that were admitted with the diagnosis BCA between 2006 and 2020 in an academic tertiary care center. 160 patients met inclusion criteria, the data was further evaluated, the focus was set on the occurrence of recurrence. Results: Recurrence of BCA was observed in 2 out of 160 surgically treated patients (1,25%), one of them with simultaneous tonsillectomy, the other without. Conclusion: A statistically significant difference in the recurrence-rate between these two groups (with/without tonsillectomy) could not be shown. The performance of an ipsilateral simultaneous tonsillectomy in the surgical workup of BCA cannot be recommended at the basis of our data. Supplementary Information: The online version contains supplementary material available at 10.1007/s12070-023-03543-5.

Case Report of Complete Second Branchial Fistula.

Background: Branchial fistulas are anomalies of embryonic development of the branchial apparatus, with the most common being second branchial fistulas. However, complete fistulas are infrequent and may relapse. Furthermore, they are difficult to manage without adequate treatment. Methods: This article presents the case of a complete second branchial fistula in a 1-year-old female patient who had a sinus on the right side of the neck since birth. Excision of the fistula tract was performed without preoperative fistulography. The tract was then ligated and dissected immediately below the mucosa. Results: The postoperative course was uneventful, and there was no evidence of recurrence. Conclusions: Previous case reports have also demonstrated good outcomes without excision of the internal opening or tonsillectomy.

New classification and surgical strategy for work type I congenital first branchial cleft anomalies in children.

PURPOSE: To investigate the anatomical relationships between the structures adjacent to the cartilaginous portion of the ear canal in children with Work type I congenital branchial cleft anomalies (CFBCAs) and to develop new classifications and surgical strategies. METHODS: Retrospective analysis was performed on 50 children with Work type I CFBCAs admitted between December 2018 and December 2022. RESULTS: Among the 50 children, total parotidectomy was performed on 49 sides. In 44 cases (88%), the main body of the lesion was closely associated with the cartilage of the inferior ear canal wall. Among these cases, the lesions in 40 cases occurred within the space enclosed by the dorsal inferior wall cartilage, mastoid process, and parotid gland, while in the remaining four cases, the lesions were located between the anterior inferior wall cartilage and parotid gland. Based on the preoperative imaging observations, clinical manifestations, and intraoperative findings, the cases were classified into 6 subtypes (a to f) including 21 cases (42%) of Type Ia (inferior wall of EAC), 7 cases (14%) of Type Ib (bottom wall of EAC), 12 cases (24%) of Type Ic (posterior-inferior wall of EAC), 4 cases (8%) of Type Id (anterior-inferior wall of EAC), 4 cases (8%) of Type Ie (anterior ear wall of EAC), and 2 cases (4%) of Type If (isolated from parotid). CONCLUSION: Surgical intervention is the only treatment for first branchial cleft anomalies and a comprehensive understanding of the classifications will help with the precise localisation and excision of the lesions.

Congenital second branchial cleft anomalies in children: A report of 52 surgical cases, with emphasis on characteristic CT findings.

Objective: The objectives of this study was to review the clinical features and surgical treatment outcomes of congenital second branchial cleft anomalies (CSBCAs) and to investigate the characteristic computed tomography (CT) findings of CSBCAs. Methods: We conducted a retrospective study of 52 children who were referred to Shanghai Children's Hospital from October 2014 to December 2021 diagnosed as CSBCAs. Results: There were 36 males and 16 females. Of them, 35 patients were presented as having a skin pit at birth or discharge from the skin opening on the lateral neck, and 17 patients presented with an asymptomatic or painful mass. The typical CT features of CSBCAs included isolated and homogeneously hypodense cystic lesions surrounded by a uniformly thin, smooth wall. CSBCAs were generally located at the anteromedial border of the sternocleidomastoid muscle, posterior to the submandibular gland, and lateral to the carotid sheath. All patients were treated surgically and only one case underwent ipsilateral tonsillectomy. After a median follow-up of 30 (range 4-90) months, no recurrence or complications were observed. Conclusions: The CSBCAs show some characteristic CT findings, which can help clinicians diagnose and plan surgical strategies. High ligation of the lesions is sufficient for complete excision of CSBCAs.

Congenital first branchial cleft anomalies in children: a study of 100 surgical cases and a review of the literature.

OBJECTIVE: To investigate the clinical features and surgical outcomes of pediatric congenital first branchial cleft anomalies (CFBCAs). METHODS: We conducted a retrospective analysis of 100 children who were referred to Shanghai Children's Hospital from March 2014 to March 2022 for the treatment of CFBCAs. RESULTS: This study included 100 patients (33 males, 67 females) with an average age of 4.0 ± 2.7 years. 64 cases were type I FBCAs and 36 were type II. The main clinical manifestations included having a skin pit or discharge from it (62%), painless masses (5%), mucopurulent otorrhea (8%) and recurrent swelling with pain (90%) in the Pochet's triangle area. 92% had infection histories, 84% had incision and drainage histories, and 18% had surgical histories. 6 cases of tympanic membranous attachment were found by auricular endoscopy. Ultrasonography (US) was 55.6% (30/54) accurate and enhanced CT was 75% (75/100) accurate in diagnosing CFBCAs. We dissected the facial nerve (FN) in 46% cases. Lesions ended in the external auditory canal (EAC) wall in 86 cases. 69 exhibited close relationship with the parotid. The patients were followed up 0.25-8.2 years. 11 had postoperative temporary facial paralysis and all improved within 6 months. 3 had recurrence and they were secondarily successfully retreated. No EAC stenosis were found. CONCLUSIONS: CFBCAs often presented with repeated swelling and purulence in Pochet's triangle. CT, US and auricular endoscopy can assist in diagnosis and planning the surgical strategy. Complete excision in non-infection stage as soon as possible is the first choice for the treatment of CFBCAs.

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

OBJECTIVE: 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. DESIGN: Retrospective analysis. SETTING: Beijing Children's Hospital of Capital Medical University from January 2016 to January 2020. METHOD: 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. RESULTS: 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. CONCLUSION: 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 OF EVIDENCE: Level 3.

Coexistence of thyroglossal duct cyst and second branchial cleft cyst in a young woman: A case report and literature review.

INTRODUCTION: Thyroglossal cysts represent 70% of congenital neck anomalies, and second branchial cleft anomalies are the most common anomalies (90%) of the branchial apparatus. However, their coexistence, especially in adults, is very rare. PRESENTATION OF CASE: A 23-year-old woman presented with a 1-year history of lateral left neck swelling and midline swelling. Imaging and histopathological examination confirmed the diagnosis of a thyroglossal duct cyst and a second branchial cleft cyst. The Sistrunk procedure was performed for surgical excision of the masses. DISCUSSION: Only three cases of a coexisting thyroglossal duct cyst and branchial cleft have been reported. CONCLUSION: When encountering patients, even adults, with neck lesions, clinicians must keep in mind the possibility of a coexistence of a thyroglossal duct and a branchial cleft cyst.

[The role of triangular space of ear canal-parotid-mastoid in the surgery for first branchial cleft anomalies].

Objective:To explore the role of triangular space of ear canal-parotid-mastoid in the operation of the first branchial cleft deformity. Methods:The clinical features and intraoperative characteristics of 25 cases with first branchial cleft anomalies who underwent surgery from September 2011 to September 2019 were analyzed, and the role of the triangular space of ear canal-parotid-mastoid in the surgery was explored. Results:Following dissecting and lesions removel of the triangular space of ear canal-parotid-mastoid, all the lesions were resected completely. Eighteen cases had fistula in the floor wall of ear canal, seven cases had duplicated of external auditory canal in the inferior of the floor wall. The recurrent cases were all attributable to the residual lesions in the triangular space. There was no recurrence, salivary leakage or stenosis of external canal. One case suffered from HB2 level facial paralysis. Conclusion:Surgery is the optimal treatment for first branchial cleft anomalies. Following the active dissection of the ear canal-parotid gland-mastoid space and depending on the microscopic operation, the deep lesions would be exposed clearly and the facial nerve could be marked and protected. Cleaning this triangle space can lead to completely lesion removal, avoid facial paralysis, salivation and recurrence.

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

OBJECTIVES: 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. STUDY DESIGN: Retrospective clinical study. METHODS: 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. RESULTS: 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). CONCLUSION: 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. LEVEL OF EVIDENCE: 4 Laryngoscope, 132:1008-1014, 2022.

An Unusual Presentation of type-IV Second Branchial Cyst: A Case Report.

Second branchial cleft cysts are a cystic dilatation of the remnant of the second branchial cleft that account for 95-percent of all branchial cleft malformations, along with second branchial fistulae and sinuses. Among them, the type-IV second branchial cyst is present against the pharyngeal wall in the parapharyngeal space and is rarest of all. Herein we report a rare presentation of type-IV second branchial cyst where MRI played a critical role for accurate preoperative diagnosis. The transcervical approach is a safe and effective technique for proper exposure and hence total surgical excision in such cases.

An extremely rare case of adult with first branchial cleft fistula: Case report.

INTRODUCTION: Anomalies of the first branchial cleft are rare and represent 10% of lateral cervical malformations. Very few cases have been described in literature. In our research, we didn't find cases of adults with first branchial cleft fistulas. First branchial cleft fistulas in adults are difficult to diagnosticate, and the surgery of the parotid gland to extract the fistula requires to be precautious. CASE PRESENTATION: The aim of this work is to present an extremely rare case of a 65 years-old patient with first branchial cleft fistula. Fistula excision surgery completed with superficial parotidectomy were performed. No sign of recurrency were found after 6 months surveillance. DISCUSSION: First branchial cleft fistula is hard to diagnosticate, especially with adults. Very few cases of adult male are described in the literature. It is often misdiagnosed with parotid tumours or as otitis with ear drainage.The treatment of First branchial cleft fistula is surgical. A complete resection of the tract is necessary to prevent recurrency. It usually requires a superficial parotidectomy and the fistula tract passes under the parotid gland. CONCLUSION: First branchial cleft fistulas are rare, and forms with adults are extremely rare to encounter. Imagery can't always help to diagnosis. Surgery is indicated in the management of this pathology, with preservation of the facial nerve.

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

IMPORTANCE: First 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. OBJECTIVE: To identify genomic alterations related to the genetic etiology of FBCAs in Chinese children. METHODS: We 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. RESULTS: We 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. INTERPRETATION: We 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.

Unusual presentation of a first branchial arch fistula with maxillofacial infection: a case report.

BACKGROUND: First branchial cleft anomaly (FBCA) is a rare congenital defect that arises due to incomplete closure of the ventral portion of the first and second branchial arches. There are variable complex clinical manifestations for patients with FBCA, which are prone to misdiagnosis and inadequate treatment. FBCAs usually involve the facial nerve with a consequent increased risk of facial nerve damage. Here, we present an unusual case of FBCA presenting with two preauricular pits in association with an abnormal maxillofacial cyst. CASE PRESENTATION: A 10-month-old girl presented to our department due to recurrent maxillofacial infections accompanied by swelling or abscess of the left cheek and purulent discharge from the preauricular pit for 4 months. A 3D-computed tomography (CT) fistulogram and magnetic resonance imaging (MRI) revealed two conjunctive tract lesions: one tract arose from the skin surface anteroinferior to the external auditory canal (EAC), through the deep lobe of the left parotid, and anteriorly extended to the left masseter; the other extended from the superficial lobe of the left parotid to the intertragic notch. After the maxillofacial infection was controlled by intravenous antibiotic administration, surgery was performed. Intraoperative tools, such as facial nerve monitors, microscopes, and methylene blue dyes, were used to facilitate the complete dissection and protection of the facial nerve. On follow-up over one year, the patient recovered well without facial palsy or recurrence. CONCLUSION: FBCA with maxillofacial cysts is rare and prone to misdiagnosis. Physicians should pay attention to this anatomic variant of FBCA with the fistula track located deep inside the facial nerve and projected medially to the masseter.

Branchial cleft anomalies: hybrid "Branchial Inclusion" theory.

PURPOSE: Branchial cleft anomalies (BCAs) are developmental malformations of the head and neck region. Their histogenesis has been the subject of controversy and is not fully understood. This study aimed to test all present developmental theories ("branchial apparatus," "precervical sinus," "thymopharyngeal," and "inclusion" theories) on a sample of 48 BCAs from a single institution. METHODS: We performed a retrospective analysis of clinical-epidemiological and anatomical-pathological characteristics of BCAs treated over a 12-year period in our hospital. RESULTS: Overall, 46 patients (24 [52.17%] women and 22 men [47.83%]) underwent surgical excision of 48 BCAs. The mean patient age at presentation was 31.65 ± 19.40 years. Branchial cleft cysts were found in 42 (87.50%) cases, and branchial cleft sinuses were found in six (12.50%) cases. Eight (16.67%) BCAs were distributed in the preauricular region, 34 (70.83%) at the anterior border of the sternocleidomastoid muscle (SCM), three (6.25%) at the posterior border of the SCM, two (4.17%) in the suprasternal notch, and one (2.08%) in the retrosternal space. Histopathologically, 39 (81.25%) BCAs had a lymphoepithelial structure and nine (18.75%) BCAs had solitary epithelial cells. Inflammation and infection were observed in 24 (50%) and 12 (25%) cases, respectively. CONCLUSION: None of the hypothesized developmental theories fully explain the embryonic origin of BCA in our study sample. A possible explanation of BCA histogenesis is through the hybrid "branchial inclusion" theory.

Atypical first branchial cleft fistula: A case report.

INTRODUCTION: First branchial cleft anomalies (FBCA) are rare. They have an estimated incidence of 1 in 100,000. Type I are those that embryologically duplicate the membrane (cutaneous) external auditory canal. The aim of this case is to describe an unusual path of a type II first branchial cleft fistula tract in a 3 years old child and its surgical management in the academic hospital of Casablanca. CASE PRESENTATION: This case is about a 3 year old girl who presented to the Ear Nose Throat (ENT) consultation for recurrent right lateral cervical infection. Clinical examination found an unsightly scar attached to an orifice giving pus located near the right mandibular angle suggesting type II first branchial cleft anomaly. Surgical excision was performed under general anesthesia by the superficial parotidectomy approach, the facial nerve was identified and preserved. The fistula cord was dissected and followed, it went under the facial nerve and the parorid gland to end under the digastric muscle where we tied it up. The postoperative check-up did not show any complications. The follow-up period was 12 months; the clinical examination did not find any sign of recurrence. CONCLUSION: First branchial cleft fistula are rare and can be in form of cyst or fistula. Its management is surgical excision keeping the tract cyst of the fistula intact with facial nerve preservation.