Netherton Syndrome with a Novel Likely Pathogenic Variant c.420del (p.Ser141ProfsTer5) in SPINK5 Gene: A Case Report.

ABSTRACT:

Introduction

Netherton syndrome (NS) is a rare autosomal recessive genodermatosis in the group of congenital ichthyosis. The clinical manifestations of the syndrome vary from a very mild clinical manifestation occurring with the picture of ichthyosis linearis circumflexa to exfoliative erythroderma. It can be fatal in the first days of a newborn's life due to dehydration, hypothermia, weight loss, respiratory infections, and sepsis. A specific anomaly of the hair trichorrexis invaginata is considered pathognomonic for the syndrome. Genetic testing of SPINK5 gene is key to confirming the diagnosis and starting early treatment.

Case presentation

We present a case report of NS in a 6-year-old boy who suffered from generalized erythroderma and desquamation of the skin fro

SUBMITTER: Kovacheva K 

PROVIDER: S-EPMC10890808 | biostudies-literature | 2024 Jan-Dec

REPOSITORIES: biostudies-literature