Homozygous CARD14 variant presenting as infantile erythroderma.
BMJ Case Rep
; 17(1)2024 Jan 16.
Article
em En
| MEDLINE
| ID: mdl-38233005
ABSTRACT
A wide range of inherited and acquired conditions can manifest as infantile erythroderma, among which CARD14-associated papulosquamous eruption (CAPE) is a rare cause. An infant boy presented with a psoriasiform rash that progressed to erythroderma and was unresponsive to topical steroids and cyclosporine. The early onset of the disease, its severity and resistance to conventional treatment were suggestive of a genetic cause. Genetic evaluation revealed a homozygous CARD14 variant of uncertain significance establishing the diagnosis of CAPE, and his parents were heterozygous carriers. There was only minimal improvement in the condition with supportive management and treatment with acitretin. Unfortunately, the child succumbed to sepsis and metabolic complications following a sudden worsening of skin disease. This case highlights the significance of genetic studies in diagnosing treatment-refractory cases of infantile erythroderma and emphasises the importance of early recognition of this rare condition.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Dermatite Esfoliativa
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Humans
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Infant
/
Male
Idioma:
En
Revista:
BMJ Case Rep
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Índia