Netherton Syndrome, a Rare Genetic Disorder—Case Report

Abstract

AbstractNetherton 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 suspected early onset sepsis. In the neonatal intensive care unit, the newborn was managed with continuous positive airway pressure support, initial antibiotics and supportive treatment. Diagnosis was established after a skin biopsy, hair sample showing a characteristic bamboo stick appearance and elevated immunoglobulin E levels.