Case Report: Fatal pneumonia as a manifestation of X-linked hypohidrotic ectodermal dysplasia: clinical phenotype and genotype characterization of a novel

Background: Clinically, X-linked hypohidrotic ectodermal dysplasia is identified by its classic triad of hypohidrosis, hypotrichosis, and oligodontia. Nevertheless, the true threat to patient survival often stems from respiratory complications that extend beyond these obvious ectodermal traits. Mechanistically, ectodysplasin A Case presentation: The proband was a male infant aged approximately 74 days. After birth, he repeatedly developed a fever and was hospitalized. Imaging confirmed pulmonary infection, and pathogen examination revealed Conclusion: This study identified a novel pathogenic EDA variant c.916delC, expanding the pathogenic variation spectrum of this gene. Through detailed family case reports and combined with imaging and pathogen evidence, we observe and suggest that underdeveloped respiratory mucosal glands and skin heat dissipation disorders may be an important pathological basis for fatal pneumonia and multiple infections in infants and young children with X-linked hypohidrotic ectodermal dysplasia. This discovery emphasizes the necessity of increasing clinical awareness of respiratory system involvement in such children, and suggests that adopting active temperature management, airway care, and reasonable anti-infection strategies in the early stages of diagnosis and treatment has important clinical reference value for improving the prognosis of children.