Abstract:Netherton syndrome is a rare genetic disorder inherited in an autosomal recessive pattern. Mutations in the serine protease inhibitor Kazal-type 5 (SPINK5) gene are responsible for this disorder. Netherton syndrome can have multisystemic effects primarily involving the hair, skin and immune system. Currently, no definitive treatment has been reported beyond supportive care. Herein, we report the case of a newborn delivered in our facility with erythematous skin with peeling rash, respiratory distress and suspe… Show more
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