Síndrome de Netherton: relato de caso

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....

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Bibliographic Details
Main Authors: Sabrina Hernandes Conceição, Gabriela Teodoro Machado, Edmara Laura Campiolo, João Ricardo Azevedo Silva
Format: Article
Language:English
Published: Sociedade Brasileira de Pediatria 2023-03-01
Series:Residência Pediátrica
Subjects:
Online Access:https://residenciapediatrica.com.br/detalhes/1285/sindrome%20de%20netherton-%20relato%20de%20caso