Yan Zhu, Si-Yuan Jiang, Rong Zhang, Yun Cao, Shu-Lian Zhang
A male infant, aged 6 days, was admitted to the hospital due to respiratory distress and systemic desquamative rash after birth. The infant presented with erythema and desquamative rash, respiratory failure, recurrent infections, chronic diarrhea, hypernatremic dehydration, and growth retardation. Comprehensive treatment, including anti-infection therapy, intravenous immunoglobulin administration, and skin care, resulted in improvement of the rash, but recurrent infections persisted. Second-generation sequencing revealed a homozygous mutation in the SPINK5 gene, consistent with the pathogenic variation of Netherton syndrome...
January 15, 2024: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics