Netherton Syndrome, a Rare Genetic Disorder—Case Report

Abstract Netherton syndrome is a rare genetic disorder inherited in an autosomal recessive pattern. Mutations the serine protease inhibitor Kazal-type 5 ( SPINK5 ) gene are responsible for this disorder. can have multisystemic effects primarily involving hair, skin and immune system. Currently, no definitive treatment has been reported beyond supportive care. Herein, we report case of newborn delivered our facility with erythematous peeling rash, respiratory distress suspected early onset sepsis. In neonatal intensive care unit, was managed continuous positive airway pressure support, initial antibiotics treatment. Diagnosis established after biopsy, hair sample showing characteristic bamboo stick appearance elevated immunoglobulin E levels.