Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient

Abstract

Abstract A child who comes to our attention for the appearance of erythematous, scaly lesions localized to the upper and lower limbs for 2 months. Histological features suggested ichthyosiform disease and concomitant mutations in the SPINK5 and FLG2 genes confirmed Netherton syndrome with severe atopic manifestations.

Keywords

• atopic dermatitis
• filaggrin 2
• ichthyosis
• Netherton syndrome
• SPINK5
• trichorrhexis invaginata