Seno del segundo arco branquial en un paciente adulto / Bilateral second branchial cleft cysts in an adult patient

Resumen El seno del segundo arco branquial es una alteración secundaria a un desarrollo anormal de los arcos branquiales. Las anomalías de los arcos branquiales incluyen quistes, fístulas, senos y glándulas ectópicas. Deben ser consideradas en el diagnóstico diferencial de las masas en cuello de pacientes adultos o pediátricos. El seno del arco branquial supone alrededor del 30 % de las masas congénitas del cuello y suele ser diagnosticado en la segunda a tercera década de la vida, siendo más comunes las del segundo arco. Se presenta con síntomas inespecíficos. Los estudios de imágenes son esenciales para su diagnóstico, clasificación y manejo quirúrgico. Se presenta el caso de un paciente de 67 años con historia clínica y examen físico de seno del segundo arco branquial, quien requirió de fistulografía y tomografía computarizada para una adecuada caracterización. El paciente fue intervenido quirúrgicamente sin complicaciones posteriormente.

Abstract The sinus of the second branchial arch is a secondary alteration of an abnormal development of the branchial arches. The anomalies of the branchial arches include cysts, fistulas, sinuses and ectopic glands. They should be considered in the differential diagnosis of neck masses in adult or pediatric patients. The sinus of the branchial arch accounts for about 30 % of the congenital masses of the neck and is usually diagnosed in the second to third decade of life, with those of the second arch being more common. It presents with nonspecific symptoms. Imaging studies are essential for the diagnosis, classification and surgical management. We present the case of a 67-year-old patient with a clinical history and physical examination of second branchial arch sinus, who required fistulography and computed tomography for adequate characterization. The patient underwent surgery without complications.

Fístulas del seno piriforme congénitas: reporte de 4 casos y revisión de la literatura / Congenital pyriform sinus fistula: report of 4 cases and review of the literature

Resumen Introducción: Las fístulas del seno piriforme, originadas desde el tercer o cuarto arco branquial, son entidades poco frecuentes. Se pueden presentar como aumento de volumen cervical, fístula cervical, absceso cervical, tiroiditis abscedada y/o disfonía. Objetivo: Reportar 4 casos tratados en nuestro hospital y revisión de la literatura. Discusión: Frente a un cuadro clínico compatible, se debe realizar estudio endos- cópico y de imágenes. El manejo quirúrgico sigue siendo el de mejores resultados, pero se han desarrollado terapias endoscópicas y combinaciones de estas con buenos resultados. Conclusión: El diagnóstico requiere un alto índice de sospecha clínica. La cirugía abierta se mantiene como el gold standard, sin embargo, en población pediátrica estaría indicada la resolución endoscópica debido a la alta morbilidad de la cirugía tradicional.

Introduction: Pyriform sinus fistula is a rare cervical branchial anomaly derived from the third and fourth branchial arch. Pyriform sinus fistula should be considered in children presenting enlarged neck mass, fistula, abscess, thyroid infection and/or dysphonia. Objective: We here report 4 cases treated in Hospital Clínico Universidad de Chile and review of the current literature on pyriform sinus fistula. Discussion: When clinical presentation is compatible with pyriform sinus fistula, endoscopic and imaging techniques are required. Surgical outcomes are better, although endoscopic therapies and combination of both surgery and endoscopy have also reported good outcomes. Conclusion: Diagnosis is made based on signs and symptoms and a high index of clinical suspicion. Open surgery is gold standard, however in pediatric population endoscopic resolution should be considered to reduce the high morbidity of traditional surgery.

Second branchial arch fistula masqueraded as recurrent parotid abscess: a case report

@#Branchial apparatus anomalies usually manifest in teenage or early adult life. Infection complicates second branchial pouch anomalies usually presented as a neck lump or discharging sinus. It is the most common form of anomalies compared to another branchial pouch aberrant. However, it is extremely rare to find a complete branchial fistula with both internal and external openings. Misdiagnosis usually occurs leading to inappropriate and suboptimal treatment. Here, we report of a case of complete second branchial pouch fistula and discuss the clinical presentation and surgical management of such lesion.

Quiste de primer arco branquial, reporte de caso y revisión de la literatura / First branchial arch cyst, case report and review of the literature

Los quistes branquiales de primer arco son una malformación congénita de baja frecuencia. Se desarrollan por la fusión incompleta de la hendidura faríngea entre el primer y el segundo arco branquial. Pueden permanecer silentes por mucho tiempo y manifestarse cuando se sobreinfectan, causando significativa morbilidad. Por lo general, se presentan en la infancia, pero muchas veces su diagnóstico es tardío ya que son difíciles de diferenciar de adenopatías u otras masas, debiendo ser considerados dentro del diagnóstico diferencial de masa cervical y parotídea, especialmente en pacientes jóvenes. La cirugía es el tratamiento definitivo, requiriendo una escisión completa del quiste y su trayecto fistuloso para evitar las recurrencias. Debido a su localización intra-parotídea y complejidad morfológica, es necesario conocer la anatomía en detalle para evitar lesionar el nervio facial. En esta revisión, se pretende presentar las características clínicas y resultados quirúrgicos en una paciente lactante con diagnóstico de quiste de primer arco, asícomo efectuar una revisión de la literatura.

First branchial arch cysts are very infrequent congenital malformations. Their development is due to an incomplete fusion of the pharyngeal cleft between the first and second branchial arch. They can remain silent for a very long time and manifest when they become infected, causing significant morbidity. In general, they present in child-hood, but many times its diagnosis occurs on a late onset since they are difficult to differentiate from lymphadenopathies or other masses. So, they should be considered on the differential diagnosis of cervical and parotid masses, especially in young patients. Surgery is its definitive treatment. Complete excision of the cyst and its fistula must be performed to avoid recurrences. Due to its intraparotid localization and morphological complexity it is necessary to understand the anatomy in detail to avoid facial nerve le-sions. In this revision, we aim to present clinical characteristics and surgical outcomes in an infant with the diagnosis of first branchial arch cyst and to review the literature.

Nuevas manifestaciones orales del síndrome branquio-óculo-facial: Caso clínico / New oral manifestations of Branchio-oculo-facial syndrome: Case report

El síndrome branquio-óculo-facial es una condición autosómica dominante con expresividad variable y que afecta particularmente las estructuras de la cara y cuello por un desarrollo inadecuado del primero y segundo arco branquial; presenta malformaciones de los ojos y oídos, con características faciales distintivas. Está asociado con alteraciones en el gen TFAP2A. Se presenta una paciente de 9 años con fenotipo de síndrome branquio-óculo-facial y la presencia de dos nuevas manifestaciones orales, la úvula bifida y la lengua con hendidura central parcial, no descritas hasta ahora en esta condición clínica.

The branchio-oculo-facial syndrome is a dominant autosomic condition with variable expressivity that affects particularly the facial and neck structures by an inadequate development of the first and second branchial arch. It is characterized by malformations of eyes and ears, with distinct facial characteristics. It is associated with alterations in TFAP2A gene. We present a patient with 9 years of age with phenotype of the branchio-oculo-facial syndrome and the presence of 2 new oral manifestations, the bifid uvula and the tongue with partial central cleft, not yet described in this clinical condition.

Evalution of triangular flap combined orbicularisoris muscles anatomical reduction for repairing macrostomia / 局解手术学杂志

Obstract:Objective To explore a more short and effective surgical treatment for macrostomia. Methods From August 2010 to July 2013,the data of 15 patients with macrostomia were collected. Macrostomia were treated by triangular flap combined orbicularis oris anatomi-cal aeduction. The surgical effect was observed. Results Fifteen cases were treated with satisfactory static and dynamic results. Conclusion The method for macrostomia correction was success,which has the advantange of minimal visible scar with satisfying results in both esthetics and functional aspects.

Anomalías inusuales del arco branquial, dermoepidérmicas y del sistema nervioso en un neonato con el síndrome VACTERL-H / Unusual branchial arch, dermoepidermal and nervous system anomalies in a neonate with VACTERL-H syndrome

El síndrome VACTERL-H es un trastorno complejo de malformaciones congénitas que implica vértebras, ano, corazón, tráquea, esófago, riñones, extremidades (del inglés limbs) e hidrocefalia. Su etiología se ha identificado sólo en algunos pacientes debido, en gran medida, a su naturaleza esporádica, así como a su alto grado de heterogeneidad clínica. En este informe se presenta a un neonato con el síndrome VACTERL-H, al que se asocian anomalías inusuales del arco branquial, dermoepidérmicas y del sistema nervioso, que se comparan con las descritas en la bibliografía médica. Según nuestra experiencia, esta presentación no sólo amplía el conocimiento del espectro de anomalías que se puede presentar en el síndrome VACTERL-H, sino que también podría ser útil en la identificación de pacientes con este fenotipo heterogéneo.

VACTERL-H syndrome is a complex disorder of congenital malformations that implies vertebrae, anus, heart, trachea, esophagus, kidneys, limbs and hydrocephalus. Its etiology has been identified in a fraction of patients largely due to their sporadic nature and its high degree of clinical heterogeneity. This report presents a newborn with VACTERL-H syndrome, associated with unusual branchial arch, dermoepidermal and nervous system anomalies, which are compared with those described in the medical literature. Based on our experience, the presentation of this case not only expands the knowledge of the spectrum of anomalies that can occur in VACTERL-H syndrome, but also can be useful in identifying patients with this heterogeneous phenotype.

Facio- Auriculo- Vertebral Sequence in association with Congenital Hypoparathyroidism.

Although, Facio-auriculo-vertebral sequence (FAVS) is a well recognized condition with cranio-facial, ocular and vertebral anomalies, extreme variability of expression is characteristic. Association of cardiac, CNS, lungs, kidneys and limb defects are described. We report a neonatal case with FAVS in association with congenital hypoparathyroidism.

A Case of Congenital Midline Cervical Cleft / 대한피부과학회지

Congenital midline cervical cleft (CMCC) is a rare congenital anomaly of the ventral of the neck. The CMCC consists of a skin tag, mucosal surface, and a caudal sinus in the ventral midline of the neck. Embryologically, the development of CMCC is thought to be mainly due to failure of the branchial arches to fuse in the midline, resulting in a ventral midline defect of the skin of the neck. We report a rare case of congenital midline cervical cleft in a 6-year old girl, plus a review of the related literature.

Ectopic Hamartomatous Thymoma: A Case Report along with a Review of the Literature Concerning the Histogenesis and New Nomenclature

Ectopic hamartomatous thymoma (EHT) is a rare and distinctive benign neoplasm of the lower neck. We here report on a case of EHT arising in the suprasternal area of 47-year-old male patient. The well-circumscribed mass measured 7 x 6 x 4 cm and it predominantly had a solid gray-white cut surface. Microscopically, the tumor consisted of spindle cells, epithelial nests, and mature adipose tissue. The epithelial component was arranged in anastomosing cords, solid nests and variable-sized cysts that were lined by squamous or cuboidal epithelium. The spindle cells revealed the myoepithelial immunohistochemical phenotype. There was no obvious thymic differentiation nor was any normal thymic tissue observed in our case. We think that EHT needs to be reclassified with using different nomenclature to designate its origin and histology. Further, pathologists and clinicians should be aware of the existence of this tumor in the lower neck so as not to mistake it for high-grade sarcoma or spindle cell carcinoma.

Tissue engineering of dentin-pulp complex-like structures by rat first branchial arch cells / 第三军医大学学报

Objective To evaluate the odontogenetic ability of first branchial arch cells of E12.5 rats. Methods First branchial arch cells (mandibular process) of E12.5 SD rats were isolated enzymatically and collected. After combined with gelatin sponge, the cells were transplanted into the renal capsule of a rat. The specimen was taken out and evaluated by histological and immunohistochemical methods in 4 weeks after growth in renal capsule. Results The first branchial arch cells with gelatin sponge developed dentin-pulp complex-like structure. Dentin sialoprotein (DSP) was expressed in the newly formed dentin-like structure. The green mineralized matrix was further identified with Masson’s trichrome staining. Conclusion Cells from first branchial arch of E12.5 rats can partially keep genetic signal of tooth growth and form dentin-pulp complex-like structure in renal capsule.