Hepatoblastoma and Wilms' tumour in an infant with Beckwith-Wiedemann syndrome and diazoxide resistant congenital hyperinsulinism.

Beckwith-Wiedemann syndrome (BWS) can be associated with embryonal tumours and congenital hyperinsulinism (CHI). We present an infant with BWS who developed congenital hepatoblastoma and Wilms' tumour during infancy. The infant presented with recurrent hypoglycaemia requiring high intravenous glucose infusion and was biochemically confirmed to have CHI. He was resistant to diazoxide but responded well to octreotide and was switched to Lanreotide at 1 year of age. Genetic analysis for mutations of ABCC8 and KCNJ11 were negative. He had clinical features suggestive of BWS. Methylation-sensitive multiplex ligation-dependent probe amplification revealed hypomethylation at KCNQ1OT1:TSS-DMR and hypermethylation at H19 /IGF2:IG-DMR consistent with mosaic UPD(11p15). Hepatoblastoma was detected on day 4 of life, which was resistant to chemotherapy, requiring surgical resection. He developed Wilms' tumour at 3 months of age, which also showed poor response to induction chemotherapy with vincristine and actinomycin D. Surgical resection of Wilms' tumour was followed by post-operative chemotherapy intensified with cycles containing cyclophosphamide, doxorubicin, carboplatin and etoposide, in addition to receiving flank radiotherapy. We report, for the first time, an uncommon association of hepatoblastoma and Wilms' tumour in BWS in early infancy. Early onset tumours may show resistance to chemotherapy. UPD(11p15) is likely associated with persistent CHI in BWS. Learning points: Long-acting somatostatin analogues are effective in managing persistent CHI in BWS. UPD(11)pat genotype may be a pointer to persistent and severe CHI. Hepatoblastoma and Wilms' tumour may have an onset within early infancy and early tumour surveillance is essential. Tumours associated with earlier onset may be resistant to recognised first-line chemotherapy.

Otoplastia Combinada / Combined Otoplasty

Introdução: Orelha em abano é a deformidade congênita mais comum de cabeça e pescoço, cuja transmissão se dá por herança autossômica dominante, sem predileção por gênero. A orelha proeminente ou "em abano" ocorre quando há um excesso ou hipertrofia da concha auricular, apagamento da antélice, um ângulo escafoconchal maior que 90º ou uma combinação destes, ocorrendo uni ou bilateralmente. O objetivo é apresentar uma abordagem conservadora para correção de orelha em abano, com a associação de técnicas. Métodos: Foi utilizada uma variação cirúrgica para realização de otoplastia com o auxílio de uma abordagem anterior para ressecção da concha auricular associada ao enfraquecimento da antélice com incisões parciais na cartilagem também por via anterior e a realização de pontos de Mustardé por via posterior para melhor definição da antélice, sem a fixação da concha à mastoide. Foram operados 200 pacientes com idade média de 17 anos, entre janeiro de 1987 e janeiro de 2015, sendo 60% do gênero feminino. Resultados: Dos 200 pacientes, apenas 24 necessitaram revisões cirúrgicas discretas. Conclusão: O procedimento cirúrgico é simples, facilmente reprodutível, proporcionando bons resultados, com alto grau de satisfação e baixo índice de complicações/morbidade.

Introduction: Protruding ear is the most common congenital deformity of the head and neck, with an autosomal dominant inheritance and no predilection for sex. Protruding ear or prominent ear occurs when there is concha excess or hypertrophy, erasure of the antihelix, a scapho-conchal angle greater than 90°, or a combination of these factors, occurring unior bilaterally. The objective is to present a conservative approach to correct protruding ear, with a combination of techniques. Methods: The otoplasty surgical technique involved an anterior approach for resection of the auricular concha, which was associated with weakening of the antihelix, and partial incisions of the cartilage were performed through anterior access and of Mustardé sutures, through posterior access for better definition of the antihelix without fixation of the concha to the mastoid. Two hundred patients with a mean age of 17 years underwent operations between January 1987 and January 2015, 60% of whom were female. Results: Of the 200 patients, only 24 patients needed discrete surgical revisions. Conclusion: The surgical procedure is simple, easily reproducible, provides good results, and is associated with a high degree of satisfaction and a low rate of complications/morbidities.

Tratamento de fissuras de lóbulo de orelha / Lobuloplasty Torn earlobe repair

INTRODUÇÃO: O uso de ornamentos auriculares é uma prática multicultural. Considerando a grande incidência de fissuras de lóbulo de orelha (FLOs) no mundo inteiro, é surpreendente a escassez de avaliações objetivas na literatura nacional e internacional. OBJETIVO: Avaliação dos resultados do fechamento de FLO's por meio de simples remoção de suas bordas e fechamento usando adesivo tissular. MÉTODOS: Estudo prospectivo no qual FLOs (36) foram tratadas por simples excisão de suas bordas epitelizadas e fechamento usando cianoacrilato como adesivo tissular. RESULTADOS: Foram tratadas FLOs causadas por brincos (91,7%) e por trauma (8,3%). Achatamento (14,8%), cicatriz inestética (13,9%), entalhe (11,1%), alongamento lobular (7,4%) e deiscência (5,6%) foram os problemas encontrados. Não houve casos de necrose ou queloides. CONCLUSÕES: O tratamento proposto mostrou-se seguro e com resultados cosméticos satisfatórios em 92,6% das pacientes.

INTRODUCTION: The use of ear ornaments is a multicultural practice. The lack of objective evaluations published in the national and international literature is surprising considering the high incidence of torn earlobe (TEL) worldwide. OBJECTIVE: Evaluation of the results of torn earlobe repair with simple marginal excision and closure using a tissue adhesive. METHODS: This was a prospective study in which TELs (36) were treated by simple excision of epithelialized edges and closure using cyanoacrylate as tissue adhesive. RESULTS: TELs caused by earrings (91.7%) and trauma (8.3%) were treated. The following issues were found: flatness (14.8%), unsightly scar (13.9%), notching (11.1%), stretched earlobe (7.4%), and dehiscence (5.6%). No cases of necrosis or keloid scars occurred. CONCLUSIONS: The proposed treatment proved safe and had satisfactory cosmetic results in 92.6% of patients.