Dias Joana Valente, Cardoso Kátia, Prado Sara Noéme, Cavaco Hugo
Paediatric Department, Hospital Beatriz Ângelo, Loures, Portugal
Paediatric Department, Hospital Beatriz Ângelo, Loures, Portugal.
BMJ Case Rep. 2023 Feb 28;16(2):e250077. doi: 10.1136/bcr-2022-250077.
Congenital ichthyoses are a rare group of genetic disorders caused by defects in the two outermost skin layers, resulting in an abnormal barrier function. We report the case of a male preterm neonate presenting at delivery with thickened and scaling skin, ectropium and eclabium. Supportive care aiming at improving skin condition and handling possible complications was provided. Following gradual clinical improvement, he was discharged after 27 days. Molecular testing identified mutations in a gene encoding lipoxygenase (), associated with autosomal recessive congenital ichthyosis. This case highlights an uncommon disease that can determine significant morbidity and mortality in the first few weeks of life. Management of this complex disease benefits from a multidisciplinary approach. Molecular studies allow a more accurate diagnosis and enable genetic counselling.
先天性鱼鳞病是一组罕见的遗传性疾病，由最外层的两层皮肤缺陷引起，导致屏障功能异常。我们报告了一例男性早产儿，出生时即出现皮肤增厚、脱屑、睑外翻和唇外翻。给予了旨在改善皮肤状况和处理可能并发症的支持性护理。随着临床症状逐渐改善，他在27天后出院。分子检测发现编码脂氧合酶的基因发生突变，与常染色体隐性先天性鱼鳞病相关。该病例凸显了一种罕见疾病，它可在生命的最初几周内导致严重的发病率和死亡率。这种复杂疾病的管理需要多学科方法。分子研究有助于更准确的诊断并实现遗传咨询。
