Síndrome de Netherton: relato de caso

Abstract

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. The clinical picture is based on the congenital ichthyosiform erythroderma triad, invaginated trichorexis and atopic manifestations. Objectives: The purpose of this paper is to report the case of a patient with classic NS changes. METHODS: The paper in question deals with a case report of a preschooler who presented, already in the neonatal period, clinical manifestations and complications resulting from the disease, associated with mutations of the SPINK5 gene. RESULTS AND DISCUSSIONS: The case report highlights the various clinical manifestations that affected patients may present, demonstrating the criteria necessary to close the diagnosis for NS. CONCLUSIONS: NS is a rare disease. it has a highly variable phenotype among patients and has a potential risk for complications. Due to the variability of clinical presentations, the diagnosis can be difficult and take years to establish. This demonstrates the importance of early recognition of the clinical condition associated with greater access to specific diagnostic tests, which would enable an institution of early treatment adapted to the needs of patients.