ZHU Yan, JIANG Si-Yuan, ZHANG Rong, CAO Yun, ZHANG Shu-Lian
Department of Neonatology, Children′s Hospital of Fudan University/National Children′s Medical Center, Shanghai 201102, China (Zhang S-L, Email: zhangshulian@fudan.edu.cn)
Abstract 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. The family opted for palliative care, and the infant died at the age of 2 months after discharge. This report documents a case of Netherton syndrome caused by the SPINK5 gene mutation in the neonatal period, and highlights multidisciplinary diagnosis and therapy for this condition.
Komatsu N, Saijoh K, Jayakumar A, et al. Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients[J]. J Invest Dermatol, 2008, 128(5): 1148-1159. PMID: 17989726. DOI: 10.1038/sj.jid.5701153.
Mazereeuw-Hautier J, Vahlquist A, Traupe H, et al. Management of congenital ichthyoses: European guidelines of care, part one[J]. Br J Dermatol, 2019, 180(2): 272-281. PMID: 30216406. DOI: 10.1111/bjd.17203.
Müller FB, Hausser I, Berg D, et al. Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing[J]. Br J Dermatol, 2002, 146(3): 495-499. PMID: 11952552. DOI: 10.1046/j.1365-2133.2002.04625.x.
