Branchial Anomalies Research Articles

Management of Congenital Third Branchial Arch Anomalies: About 2 Cases

Management of Congenital Third Branchial Arch Anomalies: About 2 Cases

Analysis of Clinical Diagnosis and Treatment Modes for Congenital Branchial Cleft Anomalies.

The objective of this study was to investigate and assess the clinical data of 123 patients diagnosed with congenital branchial cleft anomalies (CBCAs), to summarize pivotal aspects concerning their clinical diagnosis and treatment process. The authors conducted a retrospective analysis of 123 patients who underwent surgical intervention for CBCAs at our institution between August 2005 and September 2021. The clinical demographic characteristics of the patients, primary symptoms, treatment chronology, preoperative diagnostic assessments, surgical strategies, occurrences of postoperative complications, and rates of recurrence were subjected to statistical analysis. Among the enrolled patients, there were 43 cases (34.9%) of congenital first branchial cleft anomalies (CFBCA), 76 cases (61.8%) of congenital second branchial cleft anomalies (CSBCA), and 4 cases (3.3%) of congenital third branchial cleft anomalies (CTBCA), with no cases of congenital fourth branchial anomalies (CFBA). Notably, among all cases, 43 anomalies were situated in the upper one-third of the sternocleidomastoid muscle, while 80 anomalies were located in the lower one-third. Different surgical approaches were selected for patients based on the specific type of anomaly presented. Following surgery, there was recurrence in 14 cases, with factors such as patient age, clinical categorization, lesion type, and history of preoperative infection and surgical intervention identified as primary risk factors for it. CBCAs represent comparatively uncommon disorders affecting the head and cervical regions in clinical practice. Diagnostic modes such as ultrasonography and lipiodol contrast radiography can be used for accurate diagnosis, with surgical intervention serving as the primary therapeutic method.

Endoscopic diagnostic and therapeutic management of branchial cleft fistula type III & IV: a single tertiary centre experience.

To date, recurrent neck abscesses associated with branchial anomalies are treated using a variety of techniques. Management strategies may include various imaging modalities and surgical methods. Endoscopic assessment and electrocauterization are the preferred diagnostic modalities and treatment strategies that have recently gained widespread acceptance and popularity. This was a retrospective review on patients' medical record from 2016 to 2023. Seven patients underwent endoscopic cauterization at our centre, a tertiary academic institution. Five of the patients (71.5%) achieved complete remission. Two patients experienced recurrence within 6 months that necessitated re-cauterization once but subsequently recovered completely. Currently, endoscopic management is the preferred approach compared to the typical open neck excision surgery as it is significantly less invasive, resulting in lesser morbidity and similar success rates. At presentation, all of them had ultrasound neck that suggestive of neck abscess. Computed tomography or magnetic resonance imaging unable to provide adequate information about the side of internal opening of fistula where only 3 out of 7 patients demonstrated tract up to the ipsilateral region of pyriform fossa. Management outcomes of this limited case series showed the potential benefits of endoscopic cauterization as the minimally invasive therapeutic method for recurrent neck abscesses caused by third and fourth branchial cleft fistulas but also to suggest the possibility as the first diagnostic tool prior to imaging studies.

Recurrent Unexplained Neck Abscess Due to 4th Branchial Anomaly

Recurrent Unexplained Neck Abscess Due to 4th Branchial Anomaly

Endoscopic Dyeing and Plasma Coblation-Assisted Open Neck Surgery for Pyriform Fossa Branchial Apparatus Anomalies in Adults.

Objective: Pyriform fossa (PF) branchial apparatus anomalies (PFBAA) are rare congenital third or fourth branchial apparatus anomalies (TBAA or FBAA). This article summarizes our paradigm in managing this condition by combining endoscopic procedures and open neck surgery. Methods: A retrospective review was undertaken concerning PFBAA cases treated at our tertiary medical institution between July 2020 and November 2023. Data were collected from case records. Three sequential steps were implemented: (1) direct laryngoscopy to identify internal orifice (IO), with injection of methylene blue into it; (2) open neck surgery to resect all inflammatory tissues, focusing on the ligation of the sinus tract out of PF; and (3) plasma coblation of IO mucosa. Results: In total, 7 cases (4 men and 3 women) were included (28-67 years old, median age 53). Presenting symptoms were various, with 6 lesions on the left and 1 on the right side. Preoperative (PO) fiberoptic laryngoscopy identified IO in 6 patients, while PO barium esophageal study identified outflow from PF in 4 patients. A preliminary diagnosis of PFBAA could be established in all cases (2 TBAA and 5 FBAA cases). Direct laryngoscopy after general anesthesia identified IO in all cases (2 on the base of PF and 5 on the apex of PF). All the surgical procedures were successful, with uneventful recovery in all the patients. No postoperative complications were observed. All the patients resumed oral fluid intake after confirmation of no pharyngeal fistula by barium esophageal study on the seventh postoperative day. The duration of follow-up was between 6 and 40 months (with a median duration of 27 months). No recurrence was observed. Conclusion: Open neck surgery, assisted by endoscopic dyeing of sinus tracts and plasma coblation of IO mucosa, is a suitable treatment for PFBAA in adults. This paradigm is effective and safe for senior surgeons.

A case of a giant Bailey type I lateral cervical cyst

AbstractBackgroundLateral cervical cysts are among the most frequent branchial anomalies of the neck, although they rarely become large.Case presentationThe present case involved a 32‐year‐old man with swelling of the right side of the neck. Pre‐operative CT findings showed a low CT value on the right side of the neck. Lateral cervical cyst removal was performed under general anesthesia, and the excision was 100 mm × 70 mm × 30 mm, which is the largest ever reported removal of a Bailey type I lateral cervical cyst.ConclusionThe patient had a good clinical course, with no post‐operative recurrence.

Congenital Sternoclavicular Sinus-Case Series of a Rare Lower Neck Deformity.

We encountered patients with a congenital cutaneous sinus tract in the sternoclavicular joint region, which we designate as "congenital sternoclavicular sinus (CSCS)." The aim of this investigation is to enhance recognition of this subtle yet noteworthy entity and develop standardized protocols for its management. Between 2013 and 2023, 172 patients, including 78 males and 94 females, were referred to our institution for the management of CSCS. Clinical charts were retrospectively reviewed. The majority of patients (60.5%) were young children below 3 years of age, with only six adult patients and a median age of 27.5 months. The left side was implicated in 157 cases (91.3%). In 146 cases (84.9%), a faint skin streak was noted above the orifice. Yet, no pharyngeal sinus tracts were detected, either through barium swallow studies or direct laryngoscopy. All skin lesions featured a diminutive orifice near the sternoclavicular joint, with the tract extending deeply into the subcutaneous tissue and terminating blindly, short of entering the joint, after a distance of 10 mm (ranging from 5 to 21 mm). Histopathological analysis revealed that the epithelial lining predominantly consisted of stratified squamous epithelium (87.8%), with ciliated columnar epithelium accounting for the remaining 12.2%. CSCS, though infrequent, presents with distinctive pathological and clinical features. The condition predominantly affects the left sternoclavicular joint region, with the notable "skin streak sign" aiding in diagnosis. We considered CSCS as one disease entity of branchial arch anomalies. Complete surgical excision offers a definitive cure. 4 Laryngoscope, 134:4402-4408, 2024.

A Rare Case of Bilateral Second Arch Branchial Fistulae; A Case Report.

Branchial arch anomalies are considered congenital defects that can occur during fetal development. They may present as cysts, sinuses, or fistulae. Anomalies of the second branchial arch are the most common. The existence of bilateral complete fistulae is exceptionally rare. In this case report, a 5-year-old boy presented with recurrent episodes of bilateral neck swelling and watery discharge from openings on the anterolateral sides of his neck since birth. He was diagnosed with bilateral branchial fistulae after confirmation via a contrast-enhanced CT scan. Surgery was performed to entirely excise the fistula tracts bilaterally. Additionally, a bilateral tonsillectomy was performed to help prevent recurrence.

Branchial Arch Remnants in the Pediatric Patient Under Local Anesthesia

Objective: Branchial arch remnants are a well-encountered pathology in pediatric patients. In the majority of cases, these vestiges are superficial and benign, save for minor cosmetic deformity or discomfort. Although branchial arch remnants in the form of skin vestiges are commonly removed, there remains a lack of in-depth study regarding appropriate protocol and experience under local anesthesia. Design: A retrospective review of subjects undergoing first branchial arch vestige excision utilizing local anesthesia was conducted (2017-2021). Demographics were recorded, including age, sex, comorbidities, vestige location, presence of tracts, post-operative complications, and significant associations. Results: A total of 178 subjects were identified for inclusion. The mean patient age during the procedure was 18.4 ± 38.3 months. A total of 34 patients presented with a current or prior comorbidity (24.7%). The most common location of the branchial remnant was the preauricular region (79.2%). Most patients were without complication (96.1%). Secondarily developed branchial anomalies were significantly associated with complications as compared to congenital anomalies (22.2% vs 3.0%, P < .042). Additionally, patients with a past medical history were significantly more likely to develop a post-operative complication (71.4% vs 22.6%, P < .13). Conclusion: In-office branchial remnant removal is a safe procedure in the young pediatric patient. Complication rates are low; patients with a significant past medical history may be more likely to incur postoperative complications. Additionally, patients with secondary vestige development may also be more likely to develop complications. Further in-office procedures are encouraged.

A Case of Auricle Deformity With 2nd Branchial Cleft Anomaly in Patient With Branchio-Otic Syndrome

Branchio-oto-renal (BOR) Syndrome is a rare autosomal dominant genetic disorder characterized by features such as branchial arch anomalies, hearing loss, preauricular fistula, auricular malformations, and renal abnormalities. Also, BOR syndrome without renal anomalies is referred to as branchio-otic syndrome. In this report, we present a case of a 50-year-old female patient with bilateral type 2 branchial arch anomalies, both preauricular fistula, bilateral inner ear malformations, bilateral sensorineural hearing loss, and right auricular malformation. The patient underwent surgical treatment. This report is the first documentation in Korea of auricular malformation in BOR syndrome, where the patient’s family exhibited a typical autosomal dominant inheritance pattern.

Management of first branchial anomalies in children: 20 years of experience.

Branchial cleft anomalies (BCAs) are common pediatric head and neck lesions; however, only 1-4% involve the first branchial cleft. The rare occurrence of first BCAs, their presentation at a young age, and the possible facial nerve involvement make diagnosis and treatment challenging. A retrospective chart review was conducted for children diagnosed with their first BCA between 2000 and 2020. Data on demographics, presenting symptoms, physical findings, imaging features, previous surgery, and treatment outcomes were collected and analyzed. The cohort included 17 patients with a median age of 5 years at presentation. Seven (41%) had undergone previous surgical intervention before definitive surgery. Eight were classified as Work Type II anomalies, and nine as Work Type I. Sixteen patients (94%) underwent definitive surgical excision at a median age of 6.9. A parotid approach was used in 10 (62%), with dissection of the mass from the facial nerve, and a retro-auricular or end-aural approach was used in 6 (38%). Complete excision was achieved in 14/16 patients (88%). Three patients had transient facial nerve paresis postoperatively. Recurrence was noted in 3/16 patients (18%). Enhancement in imaging was positively correlated with post-operative complications (R = 0.463, P = 0.018). First, BCA poses a diagnostic and surgical challenge; thus, definitive surgical treatment is often delayed. The surgical approach should be tailored to the type of anomaly (Work type I or II) and possible facial nerve involvement. Risk factors for post-operative complications are a history of recurrent infections and previous surgical interventions. The presence of contrast enhancement in preoperative imaging should alert surgeons to perioperative challenges and the risk of post-operative complications.

Mechanisms of pathogenicity and the quest for genetic modifiers of kidney disease in branchiootorenal syndrome.

Branchiootorenal (BOR) syndrome is an autosomal dominant disorder caused by pathogenic EYA1 variants and clinically characterized by auricular malformations with hearing loss, branchial arch anomalies, and congenital anomalies of the kidney and urinary tract. BOR phenotypes are highly variable and heterogenous. While random monoallelic expression is assumed to explain this phenotypic heterogeneity, the potential role of modifier genes has not yet been explored. Through thorough phenotyping and exome sequencing, we studied one family with disease presentation in at least four generations in both clinical and genetic terms. Functional investigation of the single associated EYA1 variant c.1698+1G>A included splice site analysis and assessment of EYA1 distribution in patient-derived fibroblasts. The candidate modifier gene CYP51A1 was evaluated by histopathological analysis of murine Cyp51+/- and Cyp51-/- kidneys. As the gene encodes the enzyme lanosterol 14α-demethylase, we assessed sterol intermediates in patient blood samples as well. The EYA1 variant c.1698+1G>A resulted in functional deletion of the EYA domain by exon skipping. The EYA domain mediates protein-protein interactions between EYA1 and co-regulators of transcription. EYA1 abundance was reduced in the nuclear compartment of patient-derived fibroblasts, suggesting impaired nuclear translocation of these protein complexes. Within the affected family, renal phenotypes spanned from normal kidney function in adulthood to chronic kidney failure in infancy. By analyzing exome sequencing data for variants that potentially play roles as genetic modifiers, we identified a canonical splice site alteration in CYP51A1 as the strongest candidate variant. In this study, we demonstrate pathogenicity of EYA1 c.1698+1G>A, propose a mechanism for dysfunction of mutant EYA1, and conjecture CYP51A1 as a potential genetic modifier of renal involvement in BOR syndrome.

Ultrasound diagnosis and treatment of branchial cleft cyst and preoperative management.

The ultrasonic diagnosis of cervical and facial cystic masses, as well as cases of missed diagnosis and misdiagnosis, was examined, to improve the diagnosis of branchial cleft anomalies. A retrospective analysis was conducted on 17 patients with branchial cleft cyst anomalies, including 11 males and 6 females, aged 12-53years, with an average age of 33 ± 2years, were unilateral single. All patients who underwent an ultrasound examination and image storage for retrospective analysis, and both longitudinal and transverse sections were scanned to observe the shape, size, boundary, peripheral relationship, and blood flow signal of the masses. All cases were examined with an enhanced CT scan, and pathological reports were generated. Among the 17 cases of branchial cleft anomalies, 15 cases were branchial cleft cysts, while one case involved fistula formation and one case involved sinus tract formation. Based on the type of branchial cleft, the first, second, and third cysts were classified in 4, 12, and 1 case, respectively. The sensitivity rate and specificity of ultrasonic diagnosis were 14/17 (82.4%) and 4/6 (66.7%), respectively. Ultrasonic characteristic analysis for the masses can be found in simple cystic masses or hypoechoic masses, most of them are of a regular shape and have a distinct boundary, and almost no blood flow signal. All patients who were misdiagnosed exhibited blood flow signals, including 1 patient with an abundant blood flow signal, 1 patient suspected of having ectopic thyroid with an abnormal function due to the rat-tail sign, 2 patients misdiagnosed as local inflammatory focus, and 1 patient misdiagnosed with tuberculous lymphadenitis. Ultrasound has a detection rate of up to 100% for cervical and facial masses, providing a fundamental determination of lesion characteristics and specific guidance for preoperative diagnosis. If the blood flow signals can be identified and carefully considered their peripheral relationship, the diagnostic rate can be improved.

A rare case of second branchial fistula with two external openings

Branchial apparatus was first described by Von Baer, but Von Ascheron was the one who described the anomalies in its development. The branchial cyst, sinus and fistula are anomalies of the branchial apparatus which consists of five mesodermal arches separated by invagination of ectoderm (clefts) and endoderm (pouch). Here we present a case of bilobulated second branchial fistula which had both openings over the skin of right anterolateral aspect of the neck. A seven years old girl, presented to ENT OPD, complaining of swelling on right side of the neck associated with discharge from an opening over the swelling since birth. The swelling was painless, progressively increasing in size. Her mother revealed that she had occasionally had a clear discharge from the openings since birth. On examination, dumbbell shaped cystic swelling approx. 5×2 cm in size with two pinhead openings on both the ends, noticed along the anterior border of SCM over the middle third of the neck. Radiological and histopathological investigations confirmed the diagnosis of second branchial fistula. Patient was managed with complete surgical excision. Second branchial anomalies present along the anterior border of sternocleidomastoid. Fistulous tract commonly extends into the pharynx, most commonly in the region of tonsillar fossa. This case report describes a congenital anomaly for which the definitive treatment was surgery. Unlike, other complete second branchial fistula it had two external openings and it was a bilobulated tract, which makes this case a rare variety of branchial fistula

Clinical Pearls of Branchial Cleft Cyst Management in an Adult

INTRODUCTION: Second branchial cleft anomalies most commonly present as cysts followed by sinuses and fistulae. They have been classified into four different sub-types by Bailey. Type II is most common type where the branchial cleft cyst (BCC) lies anterior to the sternocleidomastoid muscle, posterior to the submandibular gland, adjacent and lateral to the carotid sheath. In this article, a case of type II second branchial cleft anomaly is presented. CASE REPORT: This article aims to portray how to evaluate a patient with second branchial cleft cyst focussing, focusing on how its diagnosed and its appropriate management. A young woman who had chief complaint of swelling of left side of the neck visited our outpatient department. She underwent complete excision of the lesion. There was no recurrence at 1year follow-up visit. DISCUSSION: Most branchial anomalies arise from the second branchial apparatus. Most second BCCs are located in the submandibular space. Patients with BCCs are usually older children or young adults. MR imaging provide the surgeon adequate preoperative information. Treatment for these lesions is complete surgical excision.

A rare cause of dysphagia due to retropharyngeal foregut duplication cyst: case report and review of the literature

BackgroundThe retropharyngeal space is a deep compartment of the head and neck region which extends from the base of the skull to the mediastinum, between the posterior pharyngeal wall and vertebral muscles, delimited laterally by carotid sheaths. Pathological processes of the retropharyngeal space are rarely encountered, generally are isolated and painless masses often cystic, and they usually originate from branchial arch anomalies, but only in rare cases, they turn out to be foregut duplication cysts. Foregut duplication cyst is rare congenital malformations arising along primitively derived alimentary tract during the first trimester in the developing embryo, mostly seen in the thorax and abdomen, with just few cases reported in the head and neck region. We report an extremely rare case of a foregut duplication cyst lined with respiratory epithelium located in the retropharyngeal space, at the level of the oropharynx, of an adult patient with dysphagia surgically treated, and we also made an analysis of the published literature about this very uncommon condition.Case presentationA 63-year-old male patient with chronic dysphagia was diagnosed with a retropharyngeal cystic lesion, which was surgically treated. Final pathologic evaluation confirmed the diagnosis of a rare foregut duplication cyst lined with respiratory epithelium. A review of the pertaining published literature about the head and neck foregut duplication cysts was made, with a particular emphasis on retropharyngeal ones.ConclusionsRetropharyngeal foregut duplication cysts are a very rare congenital cyst of the head and neck. Clinical symptoms such as dysphagia and dyspnea should be evaluated with fibrolaryngoscopy, and CT and MRI scans are of great significance for definitive diagnosis, which should include the possibility of a foregut duplication cyst in the differential diagnosis. Surgical excision is the elective treatment for this lesion, in order to prevent complications including infection and compression symptoms or eventually malignant transformation.

Recurrent Neck Abscess in a Child: Is Fourth Branchial Arch Anomaly More Common than We Think?

Branchial arch anomalies are the second most common cause of congenital lesions of the head and neck in children. We discuss a case of recurrent neck abscess in a young child, which eventually led to a third/fourth branchial cleft anomaly diagnosis. We aim to share our experience in the management of this patient along with a review of literature focusing on the presentation, diagnostic workup and treatment of third/fourth branchial arch anomaly.

Early presentation of complete branchial fistula with review of literature

Branchial anomalies are rarely seen in clinical practice. They arise as a result of aberrations of the branchial apparatus during fetal development. Though present since birth, they are usually diagnosed in the first or second decade of life. Second arch anomalies are by far the most common and present as a neck mass or discharging sinus that may be complicated by infection. Clinical examination often reveals the lesion to be related to the junction of the upper two thirds and the lower one third of the sternocleidomastoid muscle. Branchial fistulas often present as a discharging sinus in the neck. The fistulous tract may extend for a variable distance within the neck. However complete branchial fistula of the second cleft with an internal opening in the tonsillar area and an external opening in the skin is rare. Surgical excision using the step ladder approach was used. No recurrence was seen at one year follow up. The incidence of such lesions presenting within first two years of age is extremely rare. Surgical excision is the treatment of choice for branchial anomalies. We present the case of a two-year-old female patient with complete branchial fistula and discuss the clinical presentation and surgical management of such lesions, while reviewing the relevant literature.

Complete Second Branchial Fistula: A Rare Entity.

Second branchial anomalies like branchial cyst, sinus or fistula are common lateral neck masses in pediatric age group but it is rare to encounter complete branchial fistula with external as well as internal openings. We present a case of 16 yrs old female patient with complete Branchial fistula which was diagnosed with the help of CT fistulogram and thereafter taken up for surgical excision of fistula under general anaesthesia. Histopathology confirmed the diagnosis of branchial fistula. In case of lateral neck mass with external opening in pediatric age group strong possibility of diagnosis of branchial fistula should be kept, timely management of the case improves the quality of life.

C-cell differentiation in the wall of an aberrant ultimobranchial sinus in the thyroid gland of an old rat.

In mammals, the thyroid gland possesses two types of endocrine cells, follicular cells and C cells, which have different functions but share a similar endodermal origin (although from different regions of the primitive pharynx). Specifically, follicular cells derive from the ventral pharyngeal floor, while C cells derive from the fourth pair of pharyngeal pouches through the ultimobranchial bodies (UBBs). Disruptions to human midline thyroid morphogenesis are relatively frequent and known as thyroid dysgenesis, which is the leading cause of congenital hypothyroidism. In contrast, fourth branchial apparatus anomalies are very rare clinical entities. The aim of this study was to analyze the morphological features and the immunohistochemical pattern of an aberrant ultimobranchial remnant, align with its persistent contribution to the formation of new C cells. The thyroid gland of an old rat was serially sectioned and immunostained for the following markers: calcitonin, thyroglobulin, cytokeratins, PCNA, P63, E-cadherin, beta-tubulin and CD3. We detected a spontaneous congenital defect in the organogenesis of the UBB in an old rat, giving rise to an 'ultimobranchial sinus', which was accompanied by thymic tissue and an abscess. The epithelium contained basal/stem cells and contributed to the formation of abundant C cells and scarce follicular cells. The ultimobranchial sinus is an exceptional finding for representing the first spontaneous abnormality in the development of UBB reported in rats, and the opportunity to observe sustained C-cell differentiation from stem cells in an old rat. These findings are consistent with a common origin of both C cells and follicular cells from UBB.