Successful infliximab treatment in siblings with Netherton syndrome: Unveiling a novel SPINK5 gene variant and literature review.
Australas J Dermatol
; 65(3): e45-e49, 2024 May.
Article
em En
| MEDLINE
| ID: mdl-38419182
ABSTRACT
Netherton syndrome (NS) is a rare autosomal recessive genodermatosis. In this article, we present two siblings with NS who harbour a novel variant in the SPINK5 gene and were treated with infliximab infusions. Both patients exhibited the characteristic clinical triad of NS, and their whole exome sequencing analysis revealed a homozygous variant, c.1820+53G>A, in the SPINK5 gene. Notably, this is the first documented instance of homozygosity for this particular variant. Despite the absence of a specific treatment, both patients achieved total clearance of the skin lesions, and a significant decrease in total IgE levels was documented.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Netherton
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Infliximab
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Inibidor de Serinopeptidase do Tipo Kazal 5
Limite:
Adult
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Female
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Humans
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Male
Idioma:
En
Revista:
Australas J Dermatol
Ano de publicação:
2024
Tipo de documento:
Article