Branchial cleft (pouch) anomalies: a review of 42 cases

A retrospective review was made of the medical records of 42 patients, who had had branchial cyst, sinus, or fistula, and who had been seen and treated at our hospitals. Three of these lesions were considered to have originated from the first branchial cleft, 36 from the second branchial cleft and/or pouch, and 3 from the fourth branchial pouch. There were no sex and side of presentation differences in the second branchial anomalies. However, the first branchial anomalies occurred predominantly in females, and the fourth branchial anomalies were predominantly left-sided. Pathological findings were of squamous epithelium and subepithelial lymphoid follicles in most branchial remnants. Skin, adenexa, and cartilage were observed in two first branchial cleft sinuses (Work's classification Type II). Columnar epithelium (respiratory type) was observed in a second branchial pouch cyst and a second branchial fistula. All the patients with first or fourth branchial anomalies had previous infections with incision and drainage procedures, whereas only two out of 36 patients with second branchial anomalies had had previous incision procedures. All patients after complete removal of branchial anomalies have no recurrence.     

External auditory canal duplication anomalies associated with congenital aural atresia

Maldevelopment of the first branchial cleft can produce a broad spectrum of anomalies in its derivative structure, the external auditory canal (EAC). Failure of the cleft to develop normally can result in either the absence of a normally patent EAC (atresia, or stenosis) or a duplication anomaly (cyst, sinus, or fistula). Despite their common origins, the coexistence of these anatomical abnormalities is quite unusual. We present four patients with both aural atresia and duplication anomalies of the EAC. Three patients had non-syndromic unilateral aural atresia and presented with periauricular lesions originating from the first branchial cleft. The other patient had a variant of Treacher Collins syndrome and presented with draining infra-auricular fistulae. The classification and management of first branchial cleft anomalies is reviewed in light of these cases. An understanding of the embryogenesis of the external ear is necessary to successfully recognize and treat this spectrum of deformities. A classification system is presented that encompasses the full spectrum of first cleft anomalies.     

Doble anomalía de la segunda hendidura branquial

Second branchial cleft anomalies are the most common of this type of neck masses. They can be classified in four types (Bailey/Proctor classification) according to their location. Type II is the most common, and related to vital neck structures such as the carotid artery and jugular vein. Cysts are the most frequent among them. Management consists of surgical excision of the cyst and tract by cervicotomy to avoid recurrence. We present an extremely rare case of a 32-year-old male who presented a sudden appearance of a right lateral neck mass that was identified by an image study as a double branchial cleft cyst. A review of simultaneous branchial cleft cyst in the literature is also made.     

First branchial cleft anomalies

Our experience with anomalies of the first branchial cleft is reviewed. This includes 38 cases, the largest series collected to date. A new classification is proposed based on the anatomic findings – whether cyst, sinus, or fistula is present. The embryology and pathology of first cleft anomalies are discussed and an approach to the diagnosis and management of these lesions is given. In addition, a patient with a branchial cleft defect involving the middle ear space is reported.     

第一鳃裂畸形的诊断与治疗进展

 第一鳃裂畸形（first branchial cleft anomalies, FBCA）是一种罕见的鳃源性疾病,大约占所有鳃裂畸形总数的1%~8%。FBCA根据其关闭不全的程度分别形成瘘管、窦道、囊肿。FBCA的罕见性和临床表现多样性导致了临床上易出现误诊和误治,其易继发感染,如果治疗不当还可造成面神经损伤等严重并发症。本文从FBCA的胚胎发生与解剖、临床表现与诊断及治疗方面的进展情况进行综述。     

Case report: a branchial cleft anomaly presenting as an oropharyngeal mass

Branchial anomalies are common cervical pathologic entities encountered in the field of otolaryngology and are typical in the pediatric and young adult populations. In most cases, these anomalies present as a cyst, sinus, or fistula in a rather stereotypical fashion. When a branchial anomaly deviates from the classic presentation, an improper diagnosis and inadequate management are more likely to occur, leading to an increased recurrence rate. We present a case of a 6-year-old girl with an incidental finding of a right posterior oropharyngeal wall mass, distinctly separate from the tonsillar fossa, which was found on pathologic analysis to be a branchial cleft anomaly. The theories regarding the pathogenesis of branchial anomalies are presented, along with other cases of atypical branchial anomalies.     

Unusual presentation of a first branchial cleft

An atypical case of a first branchial cleft presenting with a cutaneous fistula and an epidermoid cyst of the external auditory canal is reported. The relevant embryology of the branchial apparatus is summarized, and variations of first branchial anomalies are discussed. The relationship with a congenital cholesteatoma is discussed.     

Diagnosis and treatment of branchial cleft anomalies in UKMMC: a 10-year retrospective study

Branchial cleft anomalies result from abnormal persistence of branchial apparatus, which is located at the lateral part of the neck. These occur due to failure of obliteration of the branchial apparatus during embryonic development. Differential diagnoses of lateral neck mass are salivary gland or neurogenic neoplasms, paragangliomas, adenopathies, cystic hygroma or cystic metastasis from squamous cell carcinoma or thyroid papillary carcinoma. Clinically, a branchial cyst is smooth, round, fluctuant and non-tender, and usually occurs over the upper part of the neck, anterior to the sternocleidomastoid muscle. Sometimes, it may present as infected cyst (or abscess), a sinus or fistula. Surgical excision is the definitive treatment for branchial anomalies. The objective of the work was to study the demographic data, clinical presentation, definite diagnostic workup and treatment of patients diagnosed with branchial anomalies. This is a retrospective study of 26 patients who were diagnosed with branchial anomalies (branchial cyst and fistula), of which only 12 patients had data available between July 1999 and June 2009 at the Otorhinolaryngology, Head and Neck Surgery, Universiti Kebangsaan Malaysia Medical Centre. Twelve cases of branchial anomalies were seen, in which 10 patients had second branchial cyst anomalies, 1 had third branchial fistula and 1 had bilateral branchial lesion. There were seven females and five males. The age of the patients varied over a wide range (4–44 years), but the majority of the patients were in their second and third decade of life. All branchial anomalies occurred at the classical site; eight patients had left-sided neck lesion. Correct clinical diagnosis was made only in five patients (41.6 %). All patients underwent surgical excision with no reported recurrence. Branchial anomalies are frequently forgotten in the differential diagnosis of lateral neck swelling. Diagnosis is usually delayed, leading to improper treatment. The diagnosis of patients who present with lateral neck cystic swelling with or without episodes of recurrent neck abscess should be considered with a high suspicion for branchial anomalies. FNA cytology is a good investigative tool in reaching toward a diagnosis of branchial lesion, with the concurrent assistance of radiological modalities. Surgical excision is the gold standard treatment of lesions of branchial anomalies.     

Cystic metastasis versus branchial cleft carcinoma: a diagnostic challenge

OBJECTIVES: There is controversy regarding the existence of branchial cleft carcinomas. The objectives are to familiarize the clinician with the presentation and treatment of cystic metastases from head and neck primary sites and differentiate these from primary branchial cleft cyst carcinomas. STUDY DESIGN: Retrospective case study and literature review. METHODS: Published reports of branchial cleft carcinomas were reviewed in conjunction with a unique case presenting at the University of Texas Medical Branch (Galveston, TX). RESULTS: Most cases of branchial cleft carcinomas are probably cystic metastases from head and neck primary sites. Cutaneous involvement with primary branchial cleft carcinomas is rare but may occur in recurrent lesions. CONCLUSIONS: The diagnosis of a primary branchial cleft cyst carcinoma requires the fulfillment of strict criteria. Cystic metastases from head and neck primaries can mimic branchial cleft carcinomas histologically. Correct diagnosis is important so that appropriate surgical and radiotherapeutic treatment can be delivered.     

功能性颈清扫术在复发性鳃裂畸形治疗中的应用

目的:探讨功能性颈清扫术在复发性鳃裂畸形治疗中的应用。方法:回顾性分析我科采用功能性颈清扫术治疗复发性鳃裂畸形(瘘管和囊肿)患者15例的资料。结果:13例切口一期愈合,2例二期愈合,1例术后饮水呛咳,1个月后自行恢复,1例术后遗留Horner综合征。随访2个月～6年,除2例失访外,无一例复发。结论:功能性颈清扫术对于多次复发的第二、第三鳃裂畸形(瘘管和囊肿)是一种安全有效的治疗手段。     

First branchial cleft cysts: clinical update

First branchial cleft cysts develop as a result of incomplete fusion of the cleft between the first and second branchial arches and give rise to two distinct anomalies, termed type I and type II anomalies. Type I anomalies are purely ectodermal while type II anomalies exhibit ectodermal and mesodermal elements. The type II anomaly incorporates some portion of the first and second arch as well as the cleft. Type I lesions are extremely rare. They appear histologically as cysts lined by squamous epithelium. Clinically, they present as a cystic mass or fistula posterior to the pinna and concha. The cyst is usually superior to the main trunk of the facial nerve and ends in a cul-de-sac on or near a bony plate at the level of the mesotympanum. Type II lesions are more numerous and represent a duplication of both membranous and cartilaginous portions of the external auditory canal. They contain skin as well as adnexal structures and cartilage and may be associated with the parotid gland. Most frequently they are associated with fistulae in the concha or external auditory canal as well as fistulous openings in the neck.     

Thymic cyst: A fourth branchial cleft anomaly

We report a unique case of a fourth branchial cleft cyst found within the thymus of an adult patient. In the literature to date, there have been no reports of such a finding in the adult population. These anomalies can often cause recurrent acute suppurative thyroiditis or recurrent deep neck abscesses. Delay in recognizing the underlying etiology can lead to significant complications. Laryngoscope, 2010     

Recurrence of a deep neck infection: a clinical indication of an underlying congenital lesion

OBJECTIVE: To discuss the computed tomographic (CT) and clinical findings of those entities that may present as recurrent deep neck infections. PATIENTS AND METHODS: Twelve patients with recurrent deep neck infections and CT scans were retrospectively identified since 1990. Their CT scans and medical histories were reviewed. The diagnosis was pathologically confirmed in all cases. RESULTS: The CT scans revealed an abscess or a localized infected cyst in the deep soft tissues of the neck, with varying degrees of associated inflammatory change in the adjacent soft tissues. The diagnoses in these cases included 1 first branchial cleft cyst, 3 second branchial cleft cysts, 1 third branchial cleft cyst, 2 fourth branchial cleft cysts, 2 infected lymphangiomas, 2 thyroglossal duct cysts, and 1 cervical thymic cyst. CONCLUSIONS: Most deep neck infections are the result of suppurative adenitis. The location of the primary focus is usually from the mucosa of the upper aerodigestive tract or from an odontogenic source. Less common causes are perforations due to a foreign body, thrombophlebitis of the internal jugular vein, or osteomyelitis of the spine. Recurrences in these situations are unusual. Less commonly, congenital lesions can present as deep neck infections, and recurrences are common. Our cases suggest that the recurrence of a deep neck infection should alert the physician to the possibility of an underlying congenital lesion and that CT is helpful in the early recognition of these lesions.     

复发性先天性颈侧瘘管及囊肿治疗方式的回顾性分析

目的:总结39例复发性先天性颈侧瘘管及囊肿患者的治疗经验,以期提高颈侧瘘管及囊肿的治愈率。方法:回顾性分析39例手术切除后复发的颈侧瘘管及囊肿患者的诊治过程。其中第一鳃裂来源12例,第二鳃裂来源6例,第三鳃裂来源21例。结果:所有患者经历瘘管或囊肿切除手术2～5次。最后1次术后随访9个月～17年,6例失访;6例复发(第一鳃裂瘘管1例,第二鳃裂瘘管3例,第三鳃裂瘘管1例、囊肿1例);1例第一鳃裂瘘管患者第3次术后发生癌变,第4次术后1年死亡。2例第三鳃裂瘘管穿过甲状腺,术中切除瘘管穿行的甲状腺组织。所有术中找到明确内口并进行有效结扎的颈侧瘘管患者术后在随访期间均未见复发。结论:提高对颈侧鳃裂畸形的认识,合理选择手术时机,制定有效的手术方案是复发性颈侧瘘管治愈的关键。     

Fourth branchial cleft cyst with no identifiable tract: case report and treatment approach

We describe a rare case of a fourth branchial cleft cyst that had no identifiable tract. The patient was a 23-year-old man who presented with recurring neck abscesses. After six similar episodes, computed tomography finally demonstrated that the most recent abscess had extended into the thyroid gland, a finding that led to the correct diagnosis. Extensive surgical extirpation of the cyst with an adjacent neck dissection was performed, and the patient remained symptom-free at 25 months of follow-up. The occurrence of a fourth branchial cleft cyst with no clear tract presents a surgical dilemma, as complete dissection cannot be guaranteed. Consequently, such patients are predisposed to recurrence. We propose that definitive management of a fourth branchial cleft cyst with no identifiable tract focus on eliminating the likely embryologically based path of bacterial seeding. This includes a hemithyroidectomy in conjunction with a selective neck dissection to cover all areas where a fourth branchial tract may lie within the neck.     

先天性耳颈瘘管的手术治疗

目的：进一步认识先天性耳颈瘘管的解剖异常特征和临床表现,并探讨该病的外科治疗方法.方法：回顾性分析21例先天性耳颈瘘管患者的临床资料,均采用手术治疗.结果：21例患者疗效满意,无腮腺瘘、面瘫及外耳道狭窄等并发症发生.结论：对该病的充分认识有利于早期诊断,完整地切除是治愈该病的惟一选择.腮腺的充分暴露及面神经的解剖与保护是完整切除瘘管及避免并发症发生的关键因素.     

A variation of first branchial cleft anomalies

First branchial cleft anomalies are considered to be duplications of the external auditory meatus (EAM) and pinna with a sinus that runs parallel to the EAM (Type 1) or with a sinus that runs from an opening in the neck and ends blindly near the cartilaginous EAM (Type 2). In this paper we discuss a young patient that presented with an infected sinus that did not resemble either of the two known types of first branchial cleft anomalies.     

Branchial anomalies in children

Background

Branchial cleft anomalies are the second most common head and neck congenital lesions seen in children. Amongst the branchial cleft malformations, second cleft lesions account for 95% of the branchial anomalies. This article analyzes all the cases of branchial cleft anomalies operated on at Great Ormond Street Hospital over the past 10 years.

Methods

All children who underwent surgery for branchial cleft sinus or fistula from January 2000 to December 2010 were included in this study.

Results

In this series, we had 80 patients (38 female and 42 male). The age at the time of operation varied from 1 year to 14 years. Amongst this group, 15 patients had first branchial cleft anomaly, 62 had second branchial cleft anomaly and 3 had fourth branchial pouch anomaly. All the first cleft cases were operated on by a superficial parotidectomy approach with facial nerve identification. Complete excision was achieved in all these first cleft cases. In this series of first cleft anomalies, we had one complication (temporary marginal mandibular nerve weakness. In the 62 children with second branchial cleft anomalies, 50 were unilateral and 12 were bilateral. In the vast majority, the tract extended through the carotid bifurcation and extended up to pharyngeal constrictor muscles. Majority of these cases were operated on through an elliptical incision around the external opening. Complete excision was achieved in all second cleft cases except one who required a repeat excision. In this subgroup, we had two complications one patient developed a seroma and one had incomplete excision. The three patients with fourth pouch anomaly were treated with endoscopic assisted monopolar diathermy to the sinus opening with good outcome.

Conclusion

Branchial anomalies are relatively common in children. There are three distinct types, first cleft, second cleft and fourth pouch anomaly. Correct diagnosis is essential to avoid inadequate surgery and multiple procedures. The surgical approach needs to be tailored to the type of anomaly of origin of the anomaly. Complete excision is essential for good outcomes.