Abnormalities in pharyngeal arch-derived structures in SATB2-associated syndrome.

SATB2-associated syndrome (SAS, glass syndrome, OMIM#612313) is a neurodevelopmental autosomal dominant disorder with frequent craniofacial abnormalities including palatal and dental anomalies. To assess the role of Satb2 in craniofacial development, we analyzed mutant mice at different stages of development. Here, we show that Satb2 is broadly expressed in early embryonic mouse development including the mesenchyme of the second and third arches. Satb2-/- mutant mice exhibit microglossia, a shortened lower jaw, smaller trigeminal ganglia, and larger thyroids. We correlate these findings with the detailed clinical phenotype of four individuals with SAS and remarkable craniofacial phenotypes with one requiring mandibular distraction in childhood. We conclude that the mouse and patient data presented support less well-described phenotypic aspects of SAS including mandibular morphology and thyroid anatomical/functional issues.

Congenital midline cervical cleft: Management of a case series and literature review.

Congenital midline cervical cleft is a rare anomaly classified as a malformation of the branchial arches and represents less than 2% of congenital cervical malformations. Its clinical presentation involves cervical midline deformities: cephalic nodular lesion, linear groove with atrophic surface, and/or caudal sinus. Other midline alterations of variable complexity may also be present. Early treatment allows for avoiding long-term complications. Based on our experience in four clinical cases, a performed literature search on the topic in the last twenty years, and subsequent discussion of the employed surgical approaches, we included 150 reported cases in our review. Correct diagnosis and early treatment with complete removal of the fibrous midline band is paramount to avoid patient complaints until adolescence or adulthood.

The congenital sternoclavicular sinus in children: Our experience of 56 cases.

OBJECTIVES: The objective of this study is to explore the clinical diagnosis and treatment of the congenital sternoclavicular sinus in the region of sternoclavicular joint, providing valuable insights for clinical practice in children. METHODOLOGY: A retrospective review of case notes was conducted for all patients treated for congenital sternoclavicular sinus at a tertiary care pediatric otolaryngology practice from January 2022 to September 2023.This review analyzed the clinical presentations, imaging examination, pathological examination, and treatment. RESULTS: A total of 56 patients with congenital sternoclavicular sinus were included in the study, with a mean age of 4.10 ± 2.57 years old. Among these patients, the sinuses were located on the left side in 43 cases,on the right side in 12 cases,and bilaterally in one case.While two patients never experienced inflammation, 54 patients did, and 45 of them underwent incision and drainage before excision. Imaging examination, including ultrasonography and computerized tomography (CT) scans, revealed characteristics such as thickening of subcutaneous tissue,subcutaneous tubular structures or tubercles in front of the clavicle,and irregularly shaped lesions with clear borders and uneven internal low echo, Pathological examination confirmed that the sinuses were lined by squamous epithelium in all patients. CONCLUSIONS: The congenital sternoclavicular sinus may be a remnant of the fourth branchial cleft on the skin side.Complete resection of the sinus during the quiescent phase of inflammation is the recommended curative treatment to prevent recurrent infection.

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

OBJECTIVE: 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. METHODS: A retrospective analysis was conducted on 17 patients with branchial cleft cyst anomalies, including 11 males and 6 females, aged 12-53 years, with an average age of 33 ± 2 years, 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. RESULTS: 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. CONCLUSION: 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.

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.

Age-related outcomes after pediatric branchial cleft cyst excision via NSQIP-P.

OBJECTIVE: Branchial cleft cysts present at varying ages; sometimes excision is delayed because of concern about operating in small children. Our goal was to determine if outcomes and complications differed among pediatric age groups. STUDY DESIGN: Retrospective, cross-sectional. SETTING: American College of Surgeons' National Surgical Quality Improvement Pediatric database. METHODS: Patients who underwent a branchial cleft cyst excision between 2016 and 2020 were identified in the American College of Surgeons National Surgical Quality Improvement Program (ACS NSQIP) Pediatric database. Patients with CPT code 42,815: 'excision branchial cleft cyst, vestige, or fistula, extending beneath subcutaneous tissues and/or into the pharynx' as their primary procedure were included. Variables of interest included patient demographics, comorbidities, pre-operative risk factors and complications. RESULTS: 2267 patients with median age of 3.9 (IQR: 7.4, range: 0.04-17.9) years were included. The most common pre-operative risk factors were 149 (7 %) patients with prematurity, 136 (6 %) with developmental delay, 135 (6 %) with congenital malformation, and 128 (6 %) with open wound or wound infection. 68 (3 %) patients experienced at least one post-operative complication, with 73 post-operative complications documented in total. Surgical site infections were the most common complications with 49 (67.1 %) superficial infections, 11 (15.1 %) deep infections, and 4 (5.5 %) organ/space infections. Surgical site infections were the most common reason for related readmission. Duration of anesthesia and operative time increased significantly as patient age increased (p < .001 for both). There was no significant correlation between age and complication incidence. CONCLUSION: Branchial cleft cyst excision is a relatively safe operation with a low complication rate, even in young pediatric populations.

Sonographic Findings of Cervical Chondrocutaneous Branchial Remnants-A Comparison With Dermal Lesions/Cysts and a Literature Review: A Pilot Study.

OBJECTIVES: Cervical chondrocutaneous branchial remnants (CCBRs) and dermal lesions, such as epidermoid cysts or brachial anomalies, including lateral cervical cysts/sinuses or dermal sinuses of anterior chest lesions, are usually located at the lower neck at the anterior or posterior border of the sternocleidomastoid muscle (SCM). We aimed to demonstrate the usefulness of ultrasonography in the differential diagnosis and evaluation of CCBRs. METHODS: We evaluated 22 lesions of 20 pediatric patients, classified into CCBR and dermal lesion groups. We used Fisher's exact test to evaluate differences between these groups in terms of lesion shape (low-echoic mass- or tubular-like), whether the lesion was adjacent to/in contact with the SCM or not, and the presence or absence of a concave SCM caused by the lesion. RESULTS: Of the 22 lesions, 8 were CCBRs, and 14 were dermal lesions. We found a significant difference in the presence/absence of adjacency to or contact with the SCM (presence/absence of adjacency to or contact with the SCM in CCBRs vs that in dermal lesions: 6/2 vs 1/13, P = .002) and presence/absence of lesion-induced concavity of the SCM (presence/absence of lesion-induced concavity of the SCM in CCBRs vs that in dermal lesions: 3/5 vs 0/14, P = .036). The lesion shape (low-echoic mass-like/tubular-like lesions) did not significantly differ between the two study groups (low-echoic mass-like/tubular-like lesions in CCBRs vs that in dermal lesions: 5/3 vs 11/6, P = .624). CONCLUSIONS: CCBRs have a strong association with the SCM. These sonographic findings may be useful in the differential diagnosis of dermal cervical lesions.

Congenital Neck Masses.

There are many possible causes of congenital neck masses, with the most common ones being thyroglossal duct cysts, branchial cleft anomalies, and vascular malformations. Most congenital neck masses are asymptomatic in the neonatal period, but depending on the location and the size, they can cause airway obstruction and serious complications at birth. Proper diagnosis is important for optimal treatment planning, and if the airway is compromised, multidisciplinary teamwork is critical for proper airway management. This review summarizes the clinical features, etiology, diagnosis, management, and prognosis of different types of congenital neck masses.

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.

Collaural fistula: Our experience.

Branchial cleft anomalies are congenital, arising from the first to the fourth pharyngeal clefts. The most common is a second arch anomaly. As it is congenital, it presents at birth though may become symptomatic later. The spectrum of anomalies includes sinus, cyst, or fistula formation or a combination of these. Here we present a case series based on first cleft anomalies. The principles of management include early diagnosis, excision of any fistulous tract, and prevention of injury to the facial nerve.

Pharyngeal Arches, Chapter 1: Normal Development and Derivatives.

The pharyngeal arches form the cornerstone of the complex anatomy of the face and neck. These embryologic structures are the foundation of face and neck development, and anomalous growth can result in craniofacial abnormalities. Surgeons who manage head and neck pathology and pathoanatomy will invariably encounter conditions associated with aberrant pharyngeal arch anatomy, and a thorough understanding of the normal and pathological development of these important structures is paramount to accurate diagnosis and treatment. This manuscript is the first of a three-part educational series that addressed the pharyngeal/branchial arch embryology, development, nomenclature, and normal anatomy (Part I), pathologic anomalies of ear and neck derived from abnormal development of the arches (Part II), and different types of orofacial clefts, including Tessier clefts (Part III).

[The managements of cervical chondrocutaneous branchial remnants].

Objective:To investigate the embryologic origin and diagnosis and management of cutaneous cartilage remains of gill origin in the neck. Methods:A total of 15 patients with cervical chondrocutaneous branchial remnants treated in Guangdong Provincial People's Hospital from January 2005 to December 2021 were retrospectively analyzed. They had a common feature showing a tumor in the lower third of the front of sternocleidomastoid muscle. The tumor looked like accessory auricle, never appeared pain or other symptoms of infection, and had no skin orifice. All patients underwent ultrasound examination, which showed an anechoic area under subcutaneous tissue of the neck or face. MRI examination in 6 cases showed subcutaneous irregular nodules the location of the lesion. Surgical resection of cervical chondrocutaneous branchial remnants was performed in all cases. Results:Postoperative pathological examination showed elastic cartilage. No complications were noticed. Recurrence was not observed in the cases by following-up of 8 months to 52 months（median: 41 months）. Conclusion:Cervical chondrocutaneous branchial remnants are relatively rare, which may originate from the second branchial arch and may be associated with other congenital malformations. The curative treatment is a complete excision preschool.

First Branchial Cleft Anomalies: Rare Work Type I and Type II Entities.

First branchial cleft anomalies (FBCAs) are the most infrequent malformations that occur during the development of the branchial apparatus, appearing in less than 8% of all branchial anomalies. Traditionally, they are classified into Work type I and II, depending on their origin. We present a pair of rare FBCAs: a case of a preauricular Work type I cyst with twin fistulae coursing toward the parotid gland and a Work type II cyst of significant dimensions.

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.

Isolated First Branchial Cleft Anomalies of the External Auditory Canal.

BACKGROUND Branchial cleft anomalies are congenital aberrations of the first to fourth pharyngeal pouches. First branchial cleft anomalies are classified into 2 subtypes according to anatomical and histological features. Their diagnosis can be difficult and depends on radiological and histological findings. In contrast, the required treatment is surgical removal, owing to the high risk of infection or malignancy. This case report introduces a first branchial cleft anomaly in an older woman with exclusive involvement of the external auditory canal (EAC). CASE REPORT This case report introduces a first branchial cleft anomaly in an 82-year-old woman with exclusive involvement of the EAC. She reported a history of mixed moderate hypoacusis and recurrent otitis media in the last year, without facial nerve involvement. Computed tomography and magnetic resonance imaging were performed to plan surgical treatment, which consisted of canaloplasty and Thiersch grafting. The histopathological examination on operative findings revealed a cystic lesion that was lined by cylindrical epithelium adjacent to the squamous cells, compatible with a diagnosis of first branchial arch malformative residues. CONCLUSIONS This is the unique case of first branchial cleft anomalies reported in an adult patient that exclusively involved the EAC. The onset of the disease was atypical, and surgery with the total removal of the lesion was the only possible treatment. Histopathology results revealed cylindric epithelium not represented in the EAC, compatible with first branchial arch malformative residues. This rare condition is a potential diagnostic option that should be considered in the differential diagnosis of cysts of the EAC.

[A case report of the first and second branchial arch syndrome with torticollis].

A 54-month-old female patient presented to the department of ophthalmology with abnormal head posture and facial asymmetry for two years. The patient's facial development was asymmetrical, with the middle 1/3 of the left side shorter than the right side. The left ear is less malformed than the right. There was no obvious abnormality in corneal light reflex and eye movement. Head tilt test ( -). So, paralysis of the superior oblique muscle was excluded. In consultation with the department of maxillofacial surgery, the patient was confirmed as the first and second branchial arch syndrome and torticollis.

Horn-shaped Symmetric Nodules on the Earlobes: An Unusual Presentation of First Branchial Cleft Anomaly.

First branchial cleft anomaly (BCA) is a rare congenital malformation of the head and neck, <10% of all BCA. it occurs between the first and second branchial arches. The diagnosis of first BCA is often delayed because of its atypical shape and rarity. A 30-year-old male presented to our clinic with bilateral earlobes nodules, he first noticed ~20 years prior. The lesions had gradually increased in size, and he stated no other specific symptoms. Bilaterally, a 1-cm-sized, sharp, horn-shaped, dark-colored, keratinized mass was palpated hardly, and no infectious signs were observed. Bilateral resection was performed, and the lesions did not form a tract in any other direction. Histopathology confirmed the lesions were first BCA composed of a cystic cavity lined by stratified squamous epithelium. Surgeons should suspect first BCA in patients with nonspecific lesions of the earlobe, and our case will help with future diagnoses.

[Study on CT features of congenital branchial cleft anomaly in children].

Objective:To summarize the CT features of congenital branchial cleft anomaly in children, to reduce misdiagnosis and improve surgical strategy. Methods:This study enrolled 323 pediatric patients with congenital first branchial cleft anomaly, congenital second branchial cleft anomaly and congenital piriform sinus fistula confirmed by surgery and post-operative histopathology, who was admitted to Shanghai Children's hospital from August 2014 to January 2021., CT imaging data were retrospectively analyzed. Results:A total of 323 children with congenital branchial cleft deformity were included. There were 145 males and 178 females, aged from 22 days to 15 years. 119（119/323, 36.8%） cases were diagnosed as congenital first branchial cleft anomaly. Among them, 96 cases（96/119, 80.67%） were related to the wall of external auditory canal, and 89 cases（89/119, 74.78%） were related to parotid gland. The positive rate of CT examination was 87.4%（104/119）. 57 cases（57 / 323, 17.6%） had congenital second branchial cleft anomaly. Among them, 46 cases（46/57, 80.7%） were related to submandibular gland. The positive rate of CT examination was 84.2%（48/57）. 147 cases（147/323, 45.5%） had congenital piriform sinus fistula, in which 129 cases（129/147, 87.8%） were related to thyroid. The positive rate of CT was 89.1%（131/147）. Conclusion:The CT findings of congenital first branchial cleft anomaly are characterized by lesions in the inferior and/or posterior wall of ipsilateral external auditory canal and parotid gland. The CT features of congenital second branchial cleft anomaly are that the lesion is located on the ipsilateral submandibular gland （posterior and medial）. The CT features of congenital piriform sinus fistula are that the focus is located on the dorsal side of the upper pole of the lateral lobe of the thyroid gland.

[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.