Neonatal Intensive Care Unit, AOUP "P. Giaccone" Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties "G. D'Alessandro", University of Palermo, Via Alfonso Giordano n. 3, 90127, Palermo, Italy.
Neonatal Intensive Care Unit, "Di Venere" Hospital Department of Women's and Children's Health, University of Bari, Bari, Italy.
Ital J Pediatr. 2020 Feb 18;46(1):25. doi: 10.1186/s13052-020-0789-5.
Aplasia cutis congenita (ACC), classified in nine groups, is likely to be underreported, since milder isolated lesions in wellbeing newborns could often be undetected, and solitary lesions in the context of polymalformative syndromes could not always be reported. Regardless of form and cause, therapeutic options have in common the aim to restore the deficient mechanical and immunological cutaneous protection and to limit the risk of fluid leakage or rupture of the exposed organs. We aimed to review our institutional prevalence, comorbidities, treatment and outcome of newborns with ACC.
We conducted a retrospective study including all newborns affected by ACC and admitted at the University Mother-Child Department from October 2010 to October 2019. Anthropometric and clinical characteristics of ACC1 versus a non-isolated ACC group were analyzed.
We encountered 37 newborns, 16 with ACC1 versus 21 with non-isolated ACC. The incidence rate of 0.1% in ACC1 was higher than expected, while 19% of cases showed intrafamilial autosomal dominant transmission. Higher birth weight centile, though lower than reference population, being adequate for gestational age, normal Apgar score and euglycemia characterizing ACC1 resulted associated to a rapid tissue regeneration. Non-isolated ACC, in relation to concomitant congenital anomalies and higher prematurity rate, showed more surgical and medical complications along with the risk of neonatal death. Specifically, newborns with ACC4 were characterized by the frequent necessity of abdominal wall defect repair, responsible for the occurrence of an abdominal compartment syndrome.
Prompt carefully assessment of the newborn with ACC in order to exclude concomitant other congenital malformations, provides clues to the underlying pathophysiology, and to the short-term prognosis. Family should be oriented toward identification of other family members affected by similar pathology, while obstetric history should exclude initial multiple pregnancy with death of a co-twin, placental anomalies and drug assumption. Molecular-genetic diagnosis and genetic counseling are integrative in individualized disease approach.
先天性皮肤发育不全（ACC）分为九组，可能报告不足，因为轻度孤立的无病新生儿病变通常不易被发现，而多畸形综合征背景下的孤立病变并非总能被报告。无论形式和原因如何，治疗选择都有一个共同的目标，即恢复受损的机械和免疫皮肤保护，并限制液体泄漏或暴露器官破裂的风险。我们旨在回顾我们机构中患有 ACC 的新生儿的患病率、合并症、治疗和结局。
我们进行了一项回顾性研究，纳入了 2010 年 10 月至 2019 年 10 月期间在大学母婴科就诊的所有患有 ACC 的新生儿。分析了 ACC1 与非孤立性 ACC 组的新生儿的人体测量和临床特征。
我们共发现 37 例新生儿，其中 16 例为 ACC1，21 例为非孤立性 ACC。ACC1 的发病率为 0.1%，高于预期，而 19%的病例显示家族性常染色体显性遗传。尽管 ACC1 的出生体重百分位数低于参考人群，但适合胎龄，正常的 Apgar 评分和血糖正常，表明组织再生迅速。非孤立性 ACC 与合并的先天性异常和较高的早产率有关，手术和医疗并发症更多，新生儿死亡风险更高。具体而言，患有 ACC4 的新生儿经常需要修复腹壁缺陷，这会导致发生腹部间隔室综合征。
迅速仔细评估患有 ACC 的新生儿，以排除其他合并的先天性畸形，有助于了解潜在的病理生理学，并预测短期预后。应向家属提供有关识别其他受类似病理影响的家属的指导，而产科史应排除初始多胎妊娠伴一胎死亡、胎盘异常和药物使用。分子遗传学诊断和遗传咨询是个体化疾病治疗的综合方法。
