Hanawa Yamato, Murasaki Wataru, Ando Tatsuya, Baba Yuji, Namba Hiroyuki
Department of Pediatrics, Jikei University Kashiwa Hospital, Chiba, Japan.
Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan.
Mol Genet Metab Rep. 2025 May 9;43:101228. doi: 10.1016/j.ymgmr.2025.101228. eCollection 2025 Jun.
X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare genetic congenital disorder characterized by allelic heterogeneity, affecting the ectodermal structures. We present the case of a 4-month-old boy diagnosed with XLHED, suffering from recurrent aspiration pneumonia due to gastroesophageal reflux disease (GERD) since he was 1-month-old. This case highlights that GERD, when severe enough to cause aspiration pneumonia, may be associated with underlying ectodermal dysplasia, such as XLHED. In such cases, tube feeding may reduce the risk of pneumonia in infants with XLHED.
X连锁低汗性外胚层发育不良（XLHED）是一种罕见的遗传性先天性疾病，其特征为等位基因异质性，会影响外胚层结构。我们报告了一例4个月大的男孩，被诊断为XLHED，自1个月大以来因胃食管反流病（GERD）反复发生吸入性肺炎。该病例突出表明，当GERD严重到足以引起吸入性肺炎时，可能与潜在的外胚层发育不良有关，如XLHED。在这种情况下，管饲可能会降低XLHED婴儿患肺炎的风险。
