Síndrome de Netherton: relato de caso

• Main Authors: Sabrina Hernandes Conceição (Author), Gabriela Teodoro Machado (Author), Edmara Laura Campiolo (Author), João Ricardo Azevedo Silva (Author)
• Format: Book
• Published: Sociedade Brasileira de Pediatria, 2023-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

INTRODUCTION: Netherton Syndrome (NS), one of the most serious disorders of cornification, is an autosomal recessive disease characterized by a mutation in the SPINK5 gene on chromosome 5q32. Its incidence is estimated at 1: 100,000 to 1: 200.00 live births, with a variable phenotype among patients....