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