Computed Tomography Findings of Complete Branchial Cleft Fistula.

Branchial cleft anomalies are embryonic remnants of the branchial arches and are described as the second most common congenital neck mass. Depending on their extent, these anomalies are classified as a cyst, sinus, or fistula with branchial cysts being the most common. Branchial cysts deriving from the second branchial arch are by far the most common, accounting for approximately 95% of all cases. Complete second branch arch fistulas with both an internal and external opening are a rare variant of this anomaly, and even less have been well-documented on computed tomography (CT) imaging in the literature. We present here a case of a 20-year-old female with CT findings consistent with a complete second branchial arch fistula extending from the tonsillar fossa to the external lateral neck.

Branchial cyst carcinoma revisited: stem cells, dormancy and malignant transformation.

PURPOSE: Branchial cleft cysts are among the most common causes for a congenital neck mass. Branchial cleft cyst carcinoma (BCCC) is a type of cancer that arises from cells within these cysts. Despite the distinct criteria that have been reported for its diagnosis, BCCC remains a controversial entity. CLINICAL REPORT: We report a case of type I, first BCCC, on a 71-year-old white man. The diagnosis was based on the proposed criteria following lesion history and location, surgical excision, histology, and panendoscopy. DISCUSSION: We argue for the first time the hypothesis that congenital branchial cysts and BCCC tumors may result from progenitor cell rests of the embryological branchial development. After a period of dormancy, these cells could eventually awake and proliferate, thus giving rise to branchial cleft cysts. With the acquirement of mutations due to genomic instability, some clones of these cells could transform to malignant stem cells, thus clinically manifesting as BCCC. CONCLUSIONS: The wide recognition of stem cells and their role in carcinogenesis provides a new context for the etiopathogenesis of controversial and rare entities such as the BCCC.

[Congenital cysts and fistulas on the neck in adults]. / Kystes et fistules congenitaux du cou chez l'adulte.

Cervical congenital malformations are relatively common in children. They can also be found in adults. The embryological development of the cervical region is closely related to the branchial clefts. This must be a diagnosis made by elimination; a cervical tumor must evoke the diagnosis of cancer. A cutaneous fistula or a cervical tumor, chronic or recent appearance in an inflammatory context, are the clinical signs. The thyroglossal duct cysts and the second branchial clefts cysts are the most common causes of median and lateral cervical cysts, respectively. Imaging contributes greatly to the orientation and diagnostic evaluation of the extent of the lesions. Treatment is initially based on antibiotic therapy and then on complete surgical excision, away from an infectious episode, the sole guarantee for the absence of local recurrence.

Distribution of branchial anomalies in a paediatric Asian population.

INTRODUCTION: The objective of the present study was to review the distribution and incidence of branchial anomalies in an Asian paediatric population and highlight the challenges involved in the diagnosis of branchial anomalies. METHODS: This was a retrospective chart review of all paediatric patients who underwent surgery for branchial anomalies in a tertiary paediatric hospital from August 2007 to November 2012. The clinical notes were correlated with preoperative radiological investigations, intraoperative findings and histology results. Branchial anomalies were classified based on the results of the review. RESULTS: A total of 28 children underwent surgery for 30 branchial anomalies during the review period. Two children had bilateral branchial anomalies requiring excision. Of the 30 branchial anomalies, 7 (23.3%) were first branchial anomalies, 5 (16.7%) were second branchial anomalies, 3 (10.0%) were third branchial anomalies, and 4 (13.3%) were fourth branchial anomalies (one of the four patients with fourth branchial anomalies had bilateral branchial anomalies). In addition, seven children had 8 (26.7%) branchial anomalies that were thought to originate from the pyriform sinus; however, we were unable to determine if these anomalies were from the third or fourth branchial arches. There was inadequate information on the remaining 3 (10.0%) branchial anomalies for classification. CONCLUSION: The incidence of second branchial anomalies appears to be lower in our Asian paediatric population, while that of third and fourth branchial anomalies was higher. Knowledge of embryology and the related anatomy of the branchial apparatus is crucial in the identification of the type of branchial anomaly.

The branchio-oto-renal (BOR) syndrome: report of bilateral renal agenesis in three sibs.

We report a man who had the branchio-oto-renal (BOR) syndrome with crossed renal ectopia. His three children were born with bilateral renal agenesis and the so-called Potter syndrome. This case illustrates the potential severity of the renal anomalies in the BOR syndrome and the inadequacy of oligohydramnios and maternal serum alpha-fetoprotein as screening methods for renal agenesis. This case also implies strongly the necessity for meticulous search for renal anomalies in individuals with the BOR syndrome and proper counseling regarding the possibility of lethal bilateral renal agenesis.

The neck.

This article describes the clinical and imaging roles of MR with respect to the following: neck masses of known or uncertain etiology; staging of cervical metastatic disease; thyroid and parathyroid; and evaluation of the thoracic inlet. Pertinent normal anatomy is highlighted when appropriate.

Periauricular cysts and sinuses.

Periauricular cysts, sinuses, and fistulas occur commonly in the pediatric population. They arise from developmental defects of the first branchial cleft and first branchial arch. In most instances the diagnosis and management of these conditions are straightforward, but exceptional presentations sometimes occur. Failure to recognize these unusual cases may result in inadequate treatment and subsequent recurrence, and even if the correct diagnosis is made, surgical management of these lesions may be complicated. A series of 15 cases of periauricular congenital lesions is reviewed, of which three cases illustrating a diagnostic or surgical challenge are presented. The embryology, presentation, and management of these anomalies are discussed. This is one of the largest series of first branchial cleft anomalies reported in the literature, and our paper uniquely discusses first branchial cleft anomalies and preauricular sinuses together, with an emphasis on the surgical management of facial nerve, external ear, and middle ear involvement.

Pharyngeal cleft sinuses and cysts, and other benign neck lesions.

Few pediatricians can expect to acquire great personal experience in dealing with many of the aforementioned lesions. Nevertheless, an appreciation of the usual presentation and natural history of most of the entities will usually permit an accurate diagnosis and guide to management in all but the most obscure conditions.

Imaging of congenital anomalies of the branchial apparatus.

One of the most challenging topics for radiologists is congenital anomalies arising from abnormal embryogenesis of the branchial apparatus. Defects of the branchial apparatus result in a spectrum of anomalies that includes fistulas, sinuses, cysts, temporal bone anomalies, craniofacial malformations, and systemic disorders. A better understanding of the various radiologic abnormalities is aided by an understanding of their embryonic origins. This article reviews the spectrum of abnormalities that are secondary to anomalous embryogenesis of the branchial arches.

Congenital lateral cervical cysts of infancy.

The etiology of lateral cervical cysts in infancy is complex. The cysts are congenital in origin and are derived from the third or fourth branchial apparatus. The authors describe two cases of congenital lateral cervical cysts with an internal opening in the pyriform sinus and possible origin in the third branchial arch. The embryology, clinical presentation, and operative management of this condition is reviewed.

Unusual patterns of congenital neck masses in children.

Congenital neck masses--thyroglossal duct cysts (TDC) and branchial cleft cysts (BCC)--are frequently encountered in any pediatric surgical practice. While their diagnosis is usually straightforward, unusual or combined presentations may occur. We report eleven cases of unusual patterns of congenital neck masses in children. Two patients underwent resection of a BCC with a sinus tract extending through the carotid bifurcation. Both patients subsequently presented with a new mass near the previous scar, which was thought to be a recurrence but was found at surgery to have TDCs with sinus tracts extending through the hyoid bone. In one patient, a lateral neck mass (presumed to be a BCC) was found at surgery to be a TDC. In all three cases the diagnoses were confirmed histologically. Eight patients presented with a solitary thyroid nodule. Six of these had intrathyroid branchial cleft remnants, and two had intrathyroid TDCs. The diagnosis became apparent at operation in six patients, while in two it was made by the pathologist after hemithyroidectomy. Ages at presentation ranged from 16 months to 14 years. The embryology of these neck structures is closely related. It should not come as a surprise that errors in their development may occur, at times paralleling the occurrence of intrathyroid location of parathyroid glands. The possibility of an embryologic rest in the neck should therefore be kept in mind with all clinically evident neck masses. TDCs and BCCs may coexist in the same patient. The histologic differentiation may be difficult in the presence of inflammation, but differences in structure are often characteristic.(ABSTRACT TRUNCATED AT 250 WORDS)

Subcutaneous bronchogenic anomalies.

Two cases of congenital anomalies, one cyst and one sinus, presenting in the suprasternal notch are reported. No communication with deeper structures was found at surgery, and histology was compatible with previous descriptions of subcutaneous bronchogenic cysts. The literature is reviewed, and the similarity between these lesions and many cases of branchial fistula is stressed.

Fourth branchial cyst presenting with neonatal respiratory distress.

Fourth branchial cysts are quite rare. A neonate with a left lateral neck mass and respiratory distress was found to have a fourth branchial cyst, which was diagnosed with computed tomography and endoscopy. The characteristic computed tomography findings included an air-containing neck cyst, which was located at the anteromedial site of the common carotid artery with mediastinal extension. Endoscopic examination revealed an internal opening at the apex of the pyriform sinus, communicating with the cyst. Total excision of the cyst was performed, and the specimen, which showed ciliated columnar epithelium with a subepithelial lymphoid infiltrate, thyroid follicles, and thymic tissue, histologically confirmed the diagnosis.

The lateral cyst of the neck: congenital or acquired?

An outer rim of lymphoid tissue and an inner epithelial lining of squamous composition form the lateral (branchial) cyst of the neck. According to the particular pattern of keratin polypeptides, branchial mass inner lining is shown to be homologous to upper digestive tract (UDT) squamous epithelia. Furthermore, immunostaining of tissue sections with a polyclonal antibody highly specific for the major acidic UDT keratin 13 demonstrates that the epithelium in question is composed of both basal and normally differentiated, i.e. non-keratinizing suprabasal (spinous) cells. 'Import' into a neck lymph node, and rapid growth of oropharyngeal crypt epithelial cells is suggested to initiate a sequence of events leading to an acquired lymphoepithelial mass that may actually present as a 'branchial cyst'.

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.

Per-oral excision of a branchial cyst.

The treatment of branchial cysts is by surgical excision. We describe a case where the cyst was medial to the pharyngeal constrictors, making a per-oral approach the safest, and easiest method of removal. The position of the cyst supports the theory that branchial cysts are congenital in origin.

The neck mass. 1. General concepts and congenital causes.

A carefully taken history and thorough physical examination are the first steps in establishing the cause of a neck mass. Location, size, consistency, and mobility of the mass provide clues and are useful for comparison during follow-up. Further studies are ordered on the basis of the impressions gathered from this evaluation. Congenital neck masses can be found in patients of any age. Thyroglossal duct and branchial cleft cysts and fistulas are formed by incomplete obliteration of the thyroglossal duct and branchial clefts during embryonic development. Other congenital causes include lymphangiomas, cystic hygromas, dermoid cysts, and hemangiomas. Laryngoceles are acquired cysts that arise from an anatomic remnant, the laryngeal ventricle. Treatment for these neck masses is nearly always surgical removal.

[Congenital neck masses. Embryonic origin and diagnosis. Report of the CIREOL]. / Pathologie cervicale congénitale. Origine embryologique et diagnostic. Rapport du CIREOL.

Various congenital cervical anomalies are found in the neck region including defects of the branchial apparatus (branchial, thymic and parathyroid anomalies) and vascular anomalies. They manifest as cystic masses, sinuses, fistulas and as ectopic glands. This multicentric retrospective imaging study done in 5 different radiological centers (4 adult radiological departments and 1 pediatric radiological department) shows the result in understanding the congenital cervical anomalies and include 63 patients. The age of the patients varied between 24 days-81 years with a mean age of 23 years. This study included 27 patients having congenital branchial pouch anomalies (4 cases of anomalies of obliteration of the 4 th arch), 14 cases of cervical cystic hygromas, 11 thyroglossal tract cyst cases, 1 congenital laryngocele case, 1 case of jugular ectasia, 3 cases of capillary haemangioma. The embryologic basis of these different malformations were reviewed. Their characteristic findings and sites were illustrated together with their typical et atypical appearances. The frequency of occurrence of each branchial anomaly were plotted, the second branchial cleft cyst being by far the most common congenital cystic neck mass (70%). The study revealed the role of different imaging modalities in the diagnosis of various congenital cervical anomalies, especially in some particular complicated cases of congenital neck masses presenting in adult. Imaging study helps the clinician to anticipate any difficulties in unforeseen circumstances that may arise including infection haemorrhage, or parapharyngeal extension. Understanding the various radiologic appearances of these anomalies is greatly aided by familiarity with their embryologic origin. Moreover, considering the anatomic location and radiologic appearance, the precise embryologic origin can be accurately predicted.