X-linked hypohidrotic ectodermal dysplasia associated with gastroesophageal reflux disease

Abstract

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.

Keywords

• Ectodermal dysplasia
• XLHED
• GERD
• Recurrent pneumonia