Síndrome Towens-Brocks, presentación de caso / Towens-Brocks syndrome. Presentation of a case

RESUMEN Introducción: el Síndrome Townes-Brocks es una enfermedad genética malformativa, que se hereda de forma autosómica dominante, con penetrancia completa y expresividad muy variable. Caracterizada por una triada de defectos congénitos nivel de oído externo, anorrectales, y en la parte distal de las extremidades, sobre todo a nivel de los pulgares, causado por mutaciones en el gen SALL1, que codifica para el factor de transcripción, localizado en cromosoma 16q12.1. Presentación de caso: se presenta una lactante de nueve meses que al nacimiento se diagnosticó ano imperforado, apéndices preauriculares y primer dedo bífido. Se realizó de inmediato el diagnóstico clínico y la intervención quirúrgica que terminó en colostomía bien tolerada, se logró buena nutrición y desarrollo psicomotor. Conclusiones: se considera el diagnóstico clínico precoz, importante para efectuar intervenciones oportunas que permitan mejorar las funciones vitales de estos enfermos, así como brindar un adecuado asesoramiento genético a las familias.

ABSTRACT Introduction: Townes-Brocks syndrome is a malformation genetic disease, is an autosomal dominant genetic disorder, with complete penetrance and highly variable expressivity. It is characterized by a triad of congenital defects at the level of the external ear, anorectal and distal extremities, especially at the level of the thumbs, caused by mutations in the SALL1 gene, which codes for the transcription factor, located on chromosome 16q12.1. Case presentation: a 9-month-old female infant was diagnosed at birth with imperforate anus, preauricular appendix and bifid first finger. The clinical diagnosis was immediately made and the surgical intervention ended in a well-tolerated colostomy, achieving good nutrition and psychomotor development. Conclusions: early clinical diagnosis is considered important to carry out timely interventions to improve the vital functions on these patients, as well as to provide adequate genetic counseling to the families.

Monitoring of birth defects in perinatal infants born during 2015-2019 in Huainan City, Anhui Province / 中国基层医药

Objective:To analyze birth defects in perinatal infants in Huainan city, Anhui province.Methods:The data of perinatal infants with birth defects born during 2015-2019 who were monitored in nine national and provincial birth defect monitoring hospitals in Huainan City were collected. The changes in birth defects, the incidence of birth defects in infants ≥ 28 weeks, urban and rural area distribution of birth defects, type of defects, and the related factors of birth defects during a 5-year study period were analyzed.Results:A total of 90 466 perinatal infants with the incidence of birth defects of 89.87/10 000 were monitored during 2015-2019. The incidence of birth defects in Anhui Province was 139.74/10 000. The proportion of preterm infants < 28 weeks with birth defects among full-term births with birth defects was 30.93% and the proportion increased year by year during 2015-2019, with the proportion of 14.84%, 31.69%, 34.83%, 32.84% and 34.02% respectively. The top five birth defects detected during 2015-2019 were multiple fingers (toes) ( n = 189, 20.89/10 000), cleft lip ( n = 96, 10.61/10 000), external ear deformity ( n = 79, 8.73/10 000), congenital heart disease ( n = 65, 7.19/10 000) and syndactyly ( n = 40, 4.42/10 000). The incidence of birth defects in males and females was 102.77/10 000 and 85.28/10 000, respectively. The incidence of birth defects in urban and rural areas were 107.38/10 000 and 79.60/10 000, respectively. Conclusion:The incidence of birth defects in preterm infants < 28 weeks in Huainan City was lower than that in the whole Anhui Province. The incidence of birth defects in Huainan City differed in different years. The incidence of birth defects in males was higher than that in females. From 2016, the incidence of birth defects in urban area was higher than that in rural area. Birth defects mainly consisted of multiple fingers (toes), external ear deformity, congenital heart disease, cleft lip and syndactyly. The detection rate of birth defects in preterm (< 28 weeks) patients was increased year by year. Early intervention effectively decreased the incidence of birth defects and improved the quality of the population in Huainan City.

Advance of the use of auricular othosis in congenital ear deformities / 中华耳鼻咽喉头颈外科杂志

Congenital ear deformities are common diseases in infants and can be effectively corrected by ear molding. However, the current knowledge about the auricular othosis is still insufficiency. As the new type of ear correction system has been produced, non-surgical correction of ear deformities is increasingly popular. To promote and standardize its clinical application, here, we reviewed the advanced publications associated with neonatal ear molding, focusing on auricular deformities classification, incidence rate, self-healing rate, as well as pathological mechanism. The review also included various auricular othosis materials, treatment opportunity, cure rate and complications.

Clinical application of cartilage replantation in situ from amputated ear in the reconstruction of ear in secondary stage / 中华耳鼻咽喉头颈外科杂志

Objective@#To investigate the feasibility and clinical effect of reconstruction the ear using cartilage from amputated ear.@*Methods@#30 patients (22 males, 8 females, age 22-50, 18 cases right ear, 12 cases left ear) with partial auricles defects received replantation of amputated ears using the cartilages from the amputated ears from January, 2013 to June, 2017.Firstly, an advancements postauricular skin flap was made.Secondly, the skin of the amputated ear was removed and its cartilage was retained, then the cartilage was sutured in situ to form cartilage bracket.Finally, the postauricular crimp scalp flap was sutured to form the helix structure.After three months, the back of the reconstructive ear was repaired with the full thickness graft to restore the cranio-auricular angle.@*Results@#Thirty cases were applied with this method to repair the defects.The sizes of auricle contour were good, and the cranio-auricular angles were restored after skin-grafting.The ear shape was stable in 3-6 months′ follow-up.VAS was used to evaluate patients satisfaction.All parameters before and after the procedure had significant difference (P<0.05).@*Conclusions@#Patients with partial auricles defects can receive replantation of amputated ears using the cartilages from the amputated ears which has the advantage of short treatment period, satisfactory clinical effect and avoidance using the costal cartilages.Its long-term effect is stable.

Manejo da deformidade auricular de Stahl: um relato de caso / Management of Stahl's ear: a case report

Descrita no século XIX, a deformidade auricular de Stahl consiste em uma má formação auricular rara, caracterizada por hipoplasia da raiz da anti-hélice com o alargamento de sua base e uma terceira raiz da anti-hélice conectando-a à parte posterior da hélice, deformando a porção posterossuperior do pavilhão auditivo. A correção cirúrgica é o tratamento definitivo, porém, pela diversidade de apresentações clínicas, não há uma técnica padrão para todos os casos. O método descrito neste relato é mais uma opção de tratamento e consiste na ressecção da terceira cruz e confecção da raiz superior da anti-hélice.

Stahl's ear deformity was first described in the 19th century and it consists of a rare auricular deformity characterized by hypoplasia of the antihelix crus with enlargement of its base and a third crus of the antihelix connected to posterior portion of helix crus, which deforms the posterolateral wall of the external auditory canal. Reconstructive surgery is the definitive treatment, however, because of the diversity of clinical presentations, no standard technique exist for all cases. The method described in this report is another treatment option and entails the resection of the third crus and reconstruction of superior crus of the antihelix.

The Rolling Earlobe Flap for Dilated Ear Holes Following Ear Gauging: A Novel Approach to Aesthetically Preserving Earlobe Soft Tissue Volume

Patients are increasingly seeking repair of their earlobes following ear gauging. Research has shown that current repair techniques either excessively reduce the lobular volume or leave an obvious scar along the free edge of the earlobe. In our case series, we describe the use of a novel technique for repairing earlobes following ear gauging using a rolling earlobe flap that preserves the lobular volume and avoids leaving a scar on the free edge of the lobule. The procedure was performed on 3 patients (6 earlobes) who had defects from ear gauging that ranged from 3.0 to 6.5 cm. There were no postoperative complications of infection, wound dehiscence, flap necrosis, hypertrophic scars, or keloids, and all patients were highly satisfied with the postoperative results. This versatile technique allows for an aesthetically pleasing reconstruction of the lobule with the advantages of: the absence of a surgical scar on the free edge of the lobule, preserving the lobule volume, and presenting a highly customizable technique that allows lobules to be created with various shapes and volumes.

The Rolling Earlobe Flap for Dilated Ear Holes Following Ear Gauging: A Novel Approach to Aesthetically Preserving Earlobe Soft Tissue Volume

Patients are increasingly seeking repair of their earlobes following ear gauging. Research has shown that current repair techniques either excessively reduce the lobular volume or leave an obvious scar along the free edge of the earlobe. In our case series, we describe the use of a novel technique for repairing earlobes following ear gauging using a rolling earlobe flap that preserves the lobular volume and avoids leaving a scar on the free edge of the lobule. The procedure was performed on 3 patients (6 earlobes) who had defects from ear gauging that ranged from 3.0 to 6.5 cm. There were no postoperative complications of infection, wound dehiscence, flap necrosis, hypertrophic scars, or keloids, and all patients were highly satisfied with the postoperative results. This versatile technique allows for an aesthetically pleasing reconstruction of the lobule with the advantages of: the absence of a surgical scar on the free edge of the lobule, preserving the lobule volume, and presenting a highly customizable technique that allows lobules to be created with various shapes and volumes.

A Modified Closed Cartilage-Preserving Otoplasty Technique for Prominent Ear Correction

BACKGROUND: In the surgical correction of prominent ear, a technique known as percutaneous adjustable closed otoplasty (PACO), which does not involve skin incision, undermining, or cartilage manipulation, has been developed to resolve problems including hematoma, infection, contour deformities, prolonged use of a compressive dressing, and hospitalization. We modified this procedure to make it more practical and accessible and to achieve better results. In this article, we introduce our modifications and demonstrate the clinical applicability of the modified procedure to patients with hardened auricular cartilage. METHODS: Two adult patients with prominent upper ears underwent closed otoplasty in an outpatient setting. Based on the anatomical features of the patients, three lines for traction sutures were designed on the scapha and counter scapha. Tab incisions were made at all predetermined puncture sites. Three antihelix-forming sutures (4-0 nylon) were put in place via percutaneous punctures. The sutures were performed from the counter scapha to the postauricular sulcus subcutaneously, using an 18-mm empty curved needle. The sutures were scraped over the mastoid bone such that they were anchored to the mastoid periosteum. After determining an adequate auriculocephalic distance, the sutures were tied at the postauricular sulcus. A slight overcorrection was made to compensate for post-surgical relapse. RESULTS: We observed no complications such as hematoma, infection, contour deformities, epithelial inclusion cyst formation, suture extrusion, or dimples on the scapha. At a long-term follow-up examination, the patients had well-defined antihelical folds and were satisfied with the aesthetic results of the procedure. CONCLUSIONS: We propose our technique as a reliable treatment option for the correction of prominent ear.

Classificação cirúrgica de Firmin para deformidades de orelha: análise crítica de série de casos operados no Brasil / Firmin’s surgical classification for ear deformities: critical analisys of a series operated in Brazil

A reconstrução para corrigir as deformidades auriculares, congênitas ou adquiridas, é uma cirurgia desafiadora devido à grande variabilidade clínica e dos tipos de tratamento. Firmin descreveu uma classificação cirúrgica com a finalidade de auxiliar o cirurgião plástico na realizaçãodo tratamento. Objetivo: Demonstrar que não existe uma regra única entre os tipos clínicos e os possíveis tipos de incisão na pele e apresentar a melhor maneira de utilizar a classificação cirúrgica de Firmin. Método: Foram avaliados 12 pacientes, todos portadores de deformidades congênitas ou adquiridas. Os pacientes foram classificados clínica e cirurgicamente pela autora sênior. Foram excluídos do estudo os pacientes submetidos à reconstrução de orelha sem a necessidadede cartilagem costal, utilizando cartilagem conchal da orelha contralateral. Todos os pacientes foram submetidos à reconstrução de orelha e acompanhados por um ano. Foi avaliado também o índice de complicações. Resultados: As classificações cirúrgicas de incisão na pele foram: 3 pacientes tipo II, 2 pacientes tipo IIIa e 4 pacientes tipo IIIb. Os tipos de maquete foram: 5 pacientes tipo I e 4 pacientes tipo III. Não houve mudanças das indicações cirúrgicas. O índice de complicações foi considerado baixo. Conclusão: A classificação cirúrgica de Firmin para reconstrução auricular demonstrou ser uma excelente ferramenta para direcionar o cirurgião plástico no planejamento terapêutico. O tipo de incisão, proposto por Firmin, a ser utilizado na correção cirúrgica tem relação com o tamanho e a localidade do remanescente auricular ou com sua ausência, e é independente da classificação clínica.

The reconstruction to correct microtias and acquired ear deformities is a defying surgery due to clinical variations and many forms of treatment. Rogers and Tanzer described the clinical classification that is the most utilized in the literature and Firmin described a surgical classification to assist the plastic surgeon in the treatment. Objective: Demonstrate that there is no strict indications between the clinical types and types of skin incision and to present the best way to use Firmin’s surgical classification. Methods: 12 patients with congenital (microtias) or acquired (burn sequela) ear deformities were evaluated. The patients were categorized clinically and surgically by the senior author. All patients under went reconstructive surgery and were followed up for one year. It was also evaluated the complication index. Results: The clinical classification was: 3 patients as small anomaly, 4 as lobular type, 3 as conchal type and 2 patients with total defect / burn sequel. The surgical classification of skin incision was: 3 patients as type II, 2 as type IIIa and 4 as type IIIb. For the framework was: 5 patients type I and 4 patients type III. The complication index was low. Conclusion: The Firmin’s surgical classification for ear reconstruction demonstrated to be an excellent tool to guide the plastic surgeon in the therapeutic treatment. The Firmin’s types of incision utilized in the corrective surgery have a relationship with the size and location of the auricular remanent and are independent of the clinical classification.

Reparo de fissura de lóbulo auricular usando cola cirúrgica de menor custo / Cleft earlob repair by use of low cost surgical glue

Introdução: As vantagens dos cianoacrilatos em síntese cutânea têm sido sobejamente demonstradas na literatura. Entretanto, estes produtos têm sido subutilizados no Brasil devido aos elevados custos do 2-octilcianoacrilato. Ademais, a forma mais economicamente acessível, o 2-etilcianoacrilato (ECA), tem sido pouco estudada como adesivo cutâneo. Relato do Caso: No caso descrito, os autores relatam a eficiência e as vantagens do fechamentode uma laceração de lóbulo auricular de uma criança usando o ECA de menor custo como alternativa à sutura.

Background: The advantages of the cyanoacrylates in cutaneous synthesis have been frequently shown in the literature. However, these products have not been very used in Brazildue to the high costs of the 2-octilcyanoacrylate. Besides, the form more economically accessible, the 2-etilcyanoacrylate (ECA) has not been much studied as cutaneous adhesive. Case Report: The authors describe the efficiency and the advantages of a laceration closing of a child’s ear lobe using the low cost ECA as alternative to the suture.

Análise do tratamento cirúrgico da macrotia congênita: experiência com oito casos / Analysis of congenital macrotia surgical treatment: the experience of eight cases

Introdução: A macrotia é uma rara deformidade congênita da orelha, caracterizada por aumento nas suas dimensões. Há pequeno número de publicações sobre o seu tratamento cirúrgico. Objetivo: Apresentar a experiência da Disciplina de Cirurgia Plástica da Faculdadede Medicina da Universidade de São Paulo (FMUSP) na correção da macrotia. Método: No período de 10 anos, oito pacientes portadores de macrotia congênita bilateral foram submetidos a tratamento cirúrgico, utilizando os princípios descritos por Bauer. Resultados: Os resultados obtidos foram considerados satisfatórios, com redução média de 1,42 cm no comprimento das orelhas e de 0,49 cm em sua largura. Não foram observadas complicações. A técnica utilizada permite correção adequada tanto do comprimento quanto da largura da orelha, mantendo suas proporções. As cicatrizes resultantes posicionam-se em locais pouco aparentes, oferecendo resultado estético satisfatório. Conclusão: A técnica é de fácil reprodutibilidade e uma boa opção para o tratamento da macrotia.

Introduction: Macrotia is a rare congenital ear deformity. Macrotic ears are out of proportion to the normal facial features. Few surgical techniques are described on the literature to treat this deformity. Objective: The experience of the Division of Plastic Surgery from University of São Paulo Faculty of Medicine on the correction of macrotia is presented. Methods: On a ten year period, eight patients with bilateral macrotic ears were treated. The technique used was that developed by Bauer. Results: Our results showed that an mean reduction of ear length in 1.37 cm and the width in 0.48 cm was achieved. There were no complications and the aesthetic results were satisfactory. The resection using natural ear creases has reduced both the length and width of the ear, preserving its proportions and positioning incisions and scars in a hidden location. Conclusion: This technique is easily reproducible and it is a good option for the treatment of macrotia.

Reconstrução da orelha pós-queimadura / Post burn ear reconstruction

O autor relata que as causas de queimadura que podem destruir o pavilhão auricular são as mesmas que acometem todo o corpo humano e enfatiza a importância da prevenção do flagelo. Ressalta que a ação destruidora pelo calor varia de acordo com a etiologia, alertando que o fogo pode produzir lesões superficiais, ao passo que os líquidos aquecidos podem destruir as estruturas auriculares imediatamente em função do contato direto. Evidencia a importância dos primeiros cuidados para preservar estruturas auriculares e evitar qualquer tentativa de reparação das lesões na orelha. O autor preconiza conduta que denominou de reparação precoce, a qual se aplica nos casos de queimaduras superficiais causadas por fogo, que consiste em realizar enxertia de pele de fina espessura para revestir as áreas cruentas sobre a orelha ainda em fase de granulação. Esse tecido de granulação abaixo do enxerto de pele desenvolve crescimento para recobrir os segmentos de cartilagem auricular. Contudo, na reconstrução em casos de destruição parcial ou total da estrutura cartilaginosa do pavilhão auricular, o autor ressalta a necessidade de se criar dois elementos anatômicos: o novo esqueleto auricular e o revestimento cutâneo. Para criar o novo arcabouço vale-se de cartilagem costal que é esculpida num único bloco. Para criar o revestimento cutâneo, emprega expansor de tecidos. A reconstrução requer, no mínimo, dois tempos cirúrgicos com intervalo de 6 meses entre o primeiro e o segundo estágio. Enfatiza que a reconstrução só pode ser realizada após completa cicatrização das feridas e requer minucioso planejamento operatório.

The author describes that the causes of burn that can destroy the auricular pavilion are the same ones that attack the whole human body and he emphasizes the importance of its prevention. He points out that the destructive action of the heat varies according to the etiology, alerting that the fire can produce superficial lesions while the warm liquids can destroy the structures of the ears immediately due to the direct contact with the organ. He mentions the importance of first aid, in order to preserve the structures of the auricle. Any attempt to repair lesions of the ear immediately, should be avoided. The author describes his personal procedure which he calls precocious reparation, which is applied in the cases of superficial burns caused by fire, which consists of accomplishing of skin graft of very thin thickness to cover the raw areas on the auricle with granulation tissue. It grows beneath the skin graft, which covers the segments of the auricular cartilage. However, in the cases of partial or total destruction of the cartilaginous structure of the auricle, the author points out that it is necessary to create two anatomical elements: the new auricular skeleton and the cutaneous covering. To create the new framework he uses of rib cartilage that is sculptured in one single block. For the creation of the cutaneous covering, he uses tissue expander. The procedure requests at least two stages of reconstruction with interval of 6 months between the first and the second one. The operation can only be performed after complete cicatrisation of the wounds under meticulous surgical planning.

Auricular prostheses by osseointegration technique for auricular defect after trauma / 中国耳鼻咽喉头颈外科

OBJECTIVE To investigate the clinical results and feasibility of auricular prostheses by osseointegration technique for total auricular defect.METHODS Nineteen patients with traumatic total auricular defect who had underwent operation of bone-anchored auricular prosthesis were studied retrospectively.There were 12 cases with congenital microtia after an unsuccessful total auricular reconstruction,1 case with sulfuric acid burn,1 case with high temperature aluminum liquid burn,4 cases with traffic accident and 1 case with knife trauma.All the cases were followed-up for 3 to 5 years.RESULTS All the patients were cured after operation once.They all had vivid appearances with natural color and luster.The auricular prosthesis by osseointegration technique was stable and had no harm for daily life.CONCLUSION Auricular prosthesis by osseointegration technique is a convenient method with less trauma,short curing time,no complication and good result.It is a salvage treatment for patients after unsuccessful total auricular reconstruction.It is also a priority method for patients with scar formation after total auricular defects.