Netherton’s Syndrome: A Case of Two Male Siblings Diagnosed in Adulthood

Netherton’s syndrome (NS) is a rare autosomal recessive genetic disease caused by a germline mutation in the SPINK5 gene. It is most commonly diagnosed in neonates due to the presence of congenital ichthyosiform erythroderma. Affected individuals will typically also develop a hair shaft abnormality...

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Bibliographic Details
Main Authors: Akshay Flora, Annika Smith
Format: Article
Language:English
Published: Karger Publishers 2020-04-01
Series:Case Reports in Dermatology
Subjects:
Online Access:https://www.karger.com/Article/FullText/507359