Abstract Aplasia cutis congenita (ACC) is a rare congenital condition characterised by the absence of skin, with or without the absence of underlying structures. Can appear as an isolated lesion or associated with other congenital malformations. The approach can be conservative or surgical. We report a case of a full-term male newborn with two adjacent ulcerated lesions with well-demarcated limits in the upper occipital region (20 and 4-5 mm diameter). Other alterations that could be associated with aplasia cutis were identified at examination, so the patient was referred to several consultations, and other system involvement was excluded. Re-evaluation at the first month of life revealed complete healing and conservative treatment was kept. After identification of ACC should be excluded other associated congenital malformations. Particularly if large skin defects or bone involvement is detected (higher risk of complications and mortality).

Resumo A aplasia cutis congenita (ACC) é uma condição congénita rara caracterizada pela ausência de pele, com ou sem atingimento de estruturas subjacentes. É maioritariamente um defeito benigno isolado, mas pode estar associado a outras malformações congénitas. O tratamento pode ser conservador ou cirúrgico. Descreve-se o caso de um recém-nascido do sexo masculino, de termo, que ao nascimento apresentava duas lesões ulceradas adjacentes com limites definidos, na região occipital (20 e 4-5 mm de diâmetro). No exame objetivo foram identificadas outras alterações que podiam ser associadas à ACC pelo que foi encaminhado para diversas consultas, tendo sido excluído o envolvimento multissistémico. Na reavaliação dermatológica no primeiro mês de vida apresentava cicatrização completa das lesões sob tratamento conservador. Após a identificação da ACC, devem ser excluídas outras malformações congénitas associadas, particularmente se grandes defeitos cutâneos ou envolvimento ósseo (associados a um maior risco de complicações e mortalidade).

Abstract Background: Congenital heart disease is the leading cause of mortality among all congenital malformations. Objectives: To evaluate the incidence of congenital heart diseases in a central maternity hospital in Portugal from January 2003 to December 2018 and to determine survival in the first year of life. Methods: Retrospective analysis of newborns diagnosed with congenital heart diseases within 72 hours after birth. Malformations were divided according to pathophysiology. Cumulative survival analysis was performed by the Kaplan-Meier test. Stastical significance was set at p <0.05. Results: A total of 297 newborns with cardiac malformation was recorded among 47,198 live births (incidence of 6:1000), 16% associated with extra-cardiac disease. The most frequent congenital heart diseases were left-to-right shunt lesions (n = 216), followed by cyanotic (n = 41), acyanotic obstructive (n = 31) and miscellaneous (n = 9). Seventy (24%) patients had prenatal diagnosis, 88% of them cyanotic defects, and a positive association was found between prenatal diagnosis and mortality (p <0.001). Coarctation of the aorta was associated with gestational diabetes (p = 0.014). Atrial septal defect was more common in females (p = 0.02). Mortality rate due to heart disease was 3.4%. Patients with cyanotic disease, 99%, 97%, 97%, respectively, for patients with left-to-right shunt lesions, and 97%, 97%,97% for those with obstructive lesion cases. Conclusion: The incidence of congenital heart disease was 6:1000, mostly left-to-right shunt lesions. Heart disease accounted for only half of deaths, and cyanotic diseases have a high nonspecific mortality rate.

RESUMO Objetivo: Caraterizar o número e métodos de fechamento de canal arterial durante 16 anos numa maternidade de nível terciário. Métodos: Estudo retrospetivo de nascidos entre 01 de janeiro de 2003 a 31 de dezembro de 2018 submetidos a fechamento do canal arterial por métodos farmacológico, cirúrgico e/ou percutâneo. Avaliaram-se idade gestacional, sexo, peso ao nascimento, número de fechamentos por ano e método utilizado. Aferiram-se as taxas de sucesso de método farmacológico e de mortalidade e sua associação com peso ao nascer, fármaco utilizado e insucesso do fechamento. Resultados: Verificaram-se 47.198 recém-nascidos, 5.156 prematuros, dos quais 325 com canal arterial patente, sendo 106 com indicação para fechamento (idade gestacional mediana 27 semanas, peso <1000 g em 61%). Verificou-se diminuição do número de fechamentos ao longo dos anos, sobretudo a partir de 2010. O fechamento ocorreu em 62% após primeiro ciclo de tratamento farmacológico e em 74% após segundo. Após insucesso farmacológico, 12 realizaram ligadura cirúrgica e dois, fechamento percutâneo. Houve indicação de ligadura cirúrgica exclusiva em quatro. O ibuprofeno substituiu a indometacina em 2010. O acetaminofen foi usado em três doentes. A mortalidade nos 106 pacientes foi de 12%, associando-se ao peso ao nascer (13/65 <1000 vs. 0/41 >1000 g; p=0,002) e à falha do primeiro ciclo de tratamento farmacológico (13/27 com falha vs. 0/75 com sucesso; p<0,001). Conclusões: Consenso nacional de 2010 para diagnóstico e tratamento do canal arterial nos prematuros levou à diminuição do número de fechamentos desse canal. O fechamento farmacológico foi o método mais utilizado, seguido da ligadura cirúrgica. Peso <1000 g e falha no primeiro ciclo de fechamento farmacológico se associaram à maior mortalidade.

ABSTRACT Objective: To characterize the number and methods of closure of Persistent Ductus Arteriosus (PDA) over a span of 16 years in a third level maternity hospital. Methods: Retrospective study of neonates born between January 2003 and Deccember 2018, who underwent ductus arteriosus closure by pharmacological, surgical and/or transcatheter methods. Gestational age, birth weight, number and methods of closures per year were evaluated. The success rate of the pharmacologic method was calculated, as well as the mortality rate. The association between mortality and birthweight, treatment used and treatment failure was explored. Results: There were 47,198 births, 5,156 were preterm, 325 presented PDA and 106 were eligible for closure (median gestational age - 27 weeks, birthweight <1000 g - 61%). Frequency of PDA closure decreased during the study period, especially starting in 2010. Success rate with pharmacologic treatment was 62% after the first cycle and 74% after the second. After drug failure, 12 underwent surgical ligation and two underwent transcatheter closure. Exclusive surgical ligation was indicated in four infants. Ibuprofen replaced indomethacin in 2010, and acetaminophen was used in three infants. Among the 106 infants, hospital mortality was 12% and it was associated with birthweight <1000 g (13/65 <1000 vs. 0/41 >1000 g; p=0.002) and with failure in the first pharmacologic treatment cycle (13/27 with failure, vs. 0/75 without failure; p<0.001). Conclusions: The national consensus published in 2010 for the diagnosis and treatment of PDA in preterm infants led to a decrease in the indication for closure. Pharmacological closure was the method of choice, followed by surgical ligation. Birthweight <1000 g and first cycle of pharmacologic treatment failure were associated with higher mortality.