Netherton syndrome (NS) is a severe autosomal recessive disorder characterized by the triad of congenital ichthyosiform erythroderma, trichorrhexis invaginata, and atopic diathesis. We report two cases that experienced severe congenital exfoliative dermatitis, recurrent infections, and allergic conditions. Examinations of hair under the light microscope revealed trichorrhexis invaginata. Whole exome sequencing identified homologous pathogenic mutations of SPINK5. Optimal skincare and proper nutritional support could improve patients' quality of life.
Keywords: atopic dermatitis; atopic diathesis; congenital ichthyosis; netherton syndrome; trichorrhexis invaginata.
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