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First branchial cleft anomalies are extremely rare and account for less than 8% of all branchial anomalies.

They are generally found in infancy although they arise during the embryonal period because of an incomplete closure of the first branchial cleft.

Anatomically, 3 types of first branchial cleft anomalies are identified:

i) cystic lesion, ii) fistula or iii) sinus extending towards the membranous external ear canal.

The sinus tract runs through the parotid gland in close association with the facial nerve. The danger of facial nerve injury during surgery and the failure to identify the sinus tract running to the external ear canal are the main reasons for incomplete excision. The facial nerve must be identified and preserved and the lesion completely excised. Facial nerve injury is more common in attempts to remove recurrent branchial cleft lesions.

Clinically, 3 types of presentation are noted:

(I) chronic purulent drainage from the ear, (II) periauricular swelling in the parotid area, and (III) abscess or persistent fistula in the neck located above a horizontal plane passing through the hyoid bone.

In 1972 Work classified first branchial cleft anomalies into two types:

Type I :  Ectodermal cysts, is a duplication of the membranous external auditory canal. Histologically the lesion consists of keratinizing squamous epithelium without adnexae ;

Type II : Originate in both ectodermal and endodermal components.  Duplicates external auditory canal and pinna. Histologically the lesion consists of keratinized squamous epithelium with adnexa and cartilage.

                  

Presentation of first branchial cleft anomalies: the Sheffield experience.J Laryngol Otol. 2007 May;121(5):455-9. Epub 2006 Nov 24.

Abnormalities of the first branchial cleft are rare. They may present with a cutaneous defect in the neck, parotid region, external auditory meatus or peri-auricular area, or with inflammatory or infective lesions at these sites. A retrospective case note review of the patients treated by the senior author is presented. This group consisted of 18 patients and represents the largest published UK series to date. Eleven patients (65 per cent) had undergone incomplete surgery prior to referral. Over half the patients had a clinically apparent lesion in relation to the external auditory meatus. There was a variable relationship between the tract and the facial nerve, which was identified at surgery in 15 cases. These findings are consistent with those of previously published series. Clinicians should keep this diagnosis in mind when assessing patients with infected lesions in the neck and parotid area. Surgeons should be familiar with parotid surgery, in children where appropriate, and be prepared to expose the facial nerve before embarking on the surgical management of these lesions.

First branchial cleft anomaly, a case for misdiagnosis.Wien Klin Wochenschr. 2004;116 Suppl 2:72-4.

First branchial cleft anomaly is a rare condition that is often misdiagnosed and falsely mistreated before complete and definitive surgical treatment. Its origin is uncertain and the presence of ectodermal and sometimes also mesodermal elements has led some authors to the conclusion that it represents buried nests of cells forming the first branchial cleft and the underlying mesoderm. First branchial cleft anomaly can be presented as a cystic lesion, fistula or sinus extending towards the membranous external ear canal. The sinus tract runs through the parotid gland in close association with the facial nerve. There is no imaging method capable of identifying a first branchial cleft anomaly with certainty. The danger of facial nerve injury during surgery and the failure to identify the sinus tract running to the external ear canal are the main reasons for incomplete excision. The facial nerve must be identified and preserved and the lesion completely excised. Facial nerve injury is more common in attempts to remove recurrent branchial cleft lesions.

Unusual association of congenital middle ear cholesteatoma and first branchial cleft anomaly: management and embryological concepts.
Int J Pediatr Otorhinolaryngol. 2005 Feb;69(2):279-82.

OBJECTIVE: To report two cases of an undescribed association of first branchial cleft fistula and middle ear congenital cholesteatoma and to discuss management and embryological hypothesis. DESIGN: Retrospective study and review of the literature RESULTS: Both patients were young girls free of past medical or surgical history. Surgical removal of the first cleft anomaly found in the two cases a fistula routing underneath the facial nerve. Both cholesteatomas were located in the hypotympanum, mesotympanum. In one case, an anatomical link between the two malformations was clearly identified with CT scan. DISCUSSION: The main embryological theories and classification are reviewed. A connection between Aimi's and Michaels' theories (congenital cholesteatoma) and Work classification might explain the reported clinical association.

First branchial cleft fistula presenting with external opening on earlobe.
Eur Arch Otorhinolaryngol. 2006 Jul;263(7):685-7.

First branchial cleft fistula is a rare congenital malformation of the head and neck with an incidence of less than 10% of all branchial cleft defects. We herein report a 15-year-old girl who had a cystic mass in the postauricular region with an external opening on the posterior face of the earlobe. Surgical exploration revealed that a second sinus tract was passing through the conchal cartilage without going beyond the skin of the external acoustic meatus. The mass and the tract were excised along with the opening on the earlobe as well as the skin island surrounding the opening. The case was treated surgically with success .The significance of our case was the location of external opening on the earlobe.

First branchial cleft sinus presenting with cholesteatoma and external auditory canal atresia.Int J Pediatr Otorhinolaryngol. 2003 Jul;67(7):811-4.

First branchial cleft abnormalities are rare. They may involve the external auditory canal and middle ear. We describe a 6-year-old girl with congenital external auditory canal atresia, microtia, and cholesteatoma of mastoid and middle ear in addition to the first branchial cleft abnormalities. Clinical features of the patient are briefly described and the embryological relationship between first branchial cleft anomaly and external auditory canal atresia is discussed. The surgical management of these lesions may be performed, both the complete excision of the sinus and reconstructive otologic surgery.

Updating concepts of first branchial cleft defects: a literature reviewInt J Pediate Otorhinolaryngol.2002 Feb 1;62(2):103-9.

OBJECTIVE: The Sinuses and fistulae of first branchial cleft origin have been widely reported in the literature and their variable relationship to the facial nerve has been described. Most published series however are too small to allow a detailed analysis of the relative frequency of various relationships of these lesions to the facial nerve and therefore enabling the determination of risks to the nerve at surgery. The aim of this study was to perform a comprehensive review of literature in an attempt to identify those patients with a deep tract (lying deep to the main trunk of the facial nerve and/or its branches, and/or between the branches) and to recognize the incidence of the complications of surgical management. METHODS: Available English, French and German literature between 1923 and 2000 was reviewed and variables including patient's age, sex, side and type of anomaly, opening of the lesion and the relationship of the tract are analyzed in relation to the position of the facial nerve. The complications due to their surgical excision are also reported. RESULTS: Of the total number of cases with fistulae and sinuses identified (n=158) fistulous tracts were more likely to lie deep to the facial nerve compared with sinus tracts (P=0.01). Lesions with openings in the external auditory meatus are associated with a tract superficial to the facial nerve (P=0.05). Patients presenting at a younger age were more likely to have a deep tract with consequent increased risk of facial nerve damage. CONCLUSION: Identification of the facial nerve trunk at an early stage of dissection is critical. Extra care and caution should be exercised in younger patients (<6 months), those with fistulous tracts and in patients with a tract opening elsewhere other than the external auditory canal.

Malformations of the first branchial cleft: a case report. Acta otorhinolaryngol Ital.2000 Jun;20(3):192-5.

First branchial cleft anomalies are extremely rare and account for less than 8% of all branchial anomalies. They are generally found in infancy although they arise during the embryonal period because of an incomplete closure of the first branchial cleft. In 1972 Work classified first branchial cleft anomalies into two types: Type I, ectodermal cysts, is a duplication of the external auditory duct; Type II, originate in both ectodermal and endodermal components and contain cartilage. The present case report describes a Type II branchial malformation. G.M., a 2-year-old male, presented painful tumefaction in the left parotid area with cutaneous fistulization between the sternocleidomastoid muscle and the mandibular angle. Cranial CT permitted diagnosis and made it possible to stage surgery. The difficulties encountered in recognizing and diagnosing first branchial cleft anomalies are often responsible for application of the wrong surgical approach and the resulting frequency in recurrences.

First branchial cleft anomalies: a study of 39 cases and a review of the literature. Arch Otolaryngol Head Neck Surg.1998 Mar;124(3):291-5.

OBJECTIVES: To identify the clinical and anatomical presentations and to discuss the guidelines for surgical management of anomalies of the first branchial cleft. DESIGN: Retrospective study. SETTING: Three tertiary care centers. PATIENTS: Thirty-nine patients with first branchial cleft anomalies operated on between 1980 and 1996. INTERVENTION: All patients were treated surgically. Complete removal of the lesion required superficial parotidectomy with facial nerve dissection in 36 cases. The relationship of the facial nerve and anomalies is discussed. RESULTS: Anatomically, 3 types of first branchial cleft anomalies are identified: fistulas (n=11), sinuses (n=20), and cysts (n=8). Clinically, 3 types of presentation are noted: chronic purulent drainage from the ear (n=12), periauricular swelling in the parotid area (n=18), and abscess or persistent fistula in the neck located above a horizontal plane passing through the hyoid bone (n=21). A membranous attachment between the floor of the external auditory canal and the tympanic membrane was observed in 10% of cases. The facial nerve was located lateral to the anomaly in 39% of cases. CONCLUSIONS: Before definitive surgery, many patients (n=17) underwent incision and drainage for infection owing to the difficulties in diagnosing this anomaly. Wide exposure is necessary in most cases, and a standard parotidectomy incision allows adequate exposure of the anomaly and preservation of the facial nerve. Complete removal without complications depends on a good understanding of regional embryogenesis, a knowledge of the circumstances surrounding discovery, an awareness of the different anatomical presentations, and a readiness to identify and protect the facial nerve during resection.

Duplication of the auditory canal. A vestige of the 1st branchial cleft. Laryngo rhinootologie1989 Dec;68(12):694-7.

Anomalies of the first branchial cleft appear as duplicated auditory canals; they are rare clinical entities. Patients will present with a history of recurrent fistulas of the neck or parotid gland close to the angle of the mandible. There are two distinct malformations associated with the first cleft: A simple sinus which is lined with squamous epithelium and runs parallel to the auditory canal (Type I); the Type II anomaly, on the other hand, has a close, though variable relationship to the facial nerve and contains cartilage, a mesodermal derivate, within the wall. Embryologically it appears that the point of time at which the disorder developed dictates whether the malformation is of Type I or II. The authors present six cases of first branchial cleft anomalies, two patients with Type I and four with Type II lesions. The sex distribution was striking: all the patients were female. In case of a Type II defect, three variations of the facial nerve with split main trunks were found. Recurrent operations and infections lead to scar tissue and subsequent surgery is more difficult, with serious hazard to the facial nerve. Where positive identification of the facial nerve is a major problem it is advisable to identify the nerve in the mastoid cavity and trace it to the stylomastoid foramen and parotid gland.

First branchial cleft cysts: clinical update. Laryngoscope.1987 Feb;97(2):136-40.

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.


November 2007

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Case Index

Infectious Disease Online; INDEX: A-D ; INDEX: E-L ; INDEX: M-P INDEX: Q-Z ; FUNGAL DISEASE ; VIRAL DISEASE.

Angiolymphoid Hyperplasia with Eosinophilia of the External Ear ;

Neoplasms of the External Ear ;

Squamous Cell Carcinoma of the External Ear ;

Verrucous Carcinoma of the External Ear

Basal cell carcinoma of the External Ear ;

Ceruminous Adenoma of the External Ear ;

Pleomorphic Adenoma of the External Ear ;

Syringocystadenoma Papilliferum of the External Ear ;

Cylindroma of the External Ear ;

Ceruminous Adenocarcinoma of the External Ear ;

Adenoid Cystic Carcinoma of the External Ear ;

Melanocytic Tumours of the External Ear ;

Benign Fibro-Osseous Lesion of the External Ear;

Exostosis of the External Ear;

Langerhans Cell Histiocytosis 

Primary Lymphoma

Vestibular Schwannoma

Middle Ear Adenoma

Meningioma 

Jugulotympanic Paraganglioma

Conjunctival Pathology

Conjunctival Dermoid Tumour

Pinguecula

Pterygium

Sarcoidosis of Conjunctiva

Ligneous Conjunctivitis

Trachoma

Chlamydial Conjunctivitis

Anomalies of the first branchial cleft. ArchOtolaryngol.1976 Dec;102(12):737-40.

Eleven cases of first branchial cleft duplication anomalies are classified into types I and II. Type I defects are associated with the first cleft and are duplication anomalies of the membranous external auditory canal. Type II defects are associated with the first cleft and first and second arches, and, as such, are associated with defects of the membranous external auditory canal and cartilaginous elements. Microscopical examination of tissue in type I anomalies shows a cyst lined by skin without adnexal structures and without cartilage. Type II anomalies usually contain all elements. Misdiagnosis, infection, and recurrences are common with these lesions. Clinically, they may drain through the neck and external auditory canal. Surgical excision must be complete or there will be recurrence. The facial nerve must be identified and protected during the excision.

Congenital malformations of the external auditory canal.Otolaryngol Clin North Am. 1996 Oct;29(5):741-60.

Abnormal development of the first and second branchial arches and the intervening branchial cleft and pharyngeal pouch can result in a variety of deformities affecting the external auditory canal and the middle ear. This article reviews several of these deformities, including external auditory canal stenosis and atresia (minor and major congenital ear malformations) and external auditory canal duplication anomalies (type I and type II branchial cleft cysts).