Combination of four features of SLC29A3 spectrum disorder in a child: A case report.
Pediatr Dermatol
; 41(5): 888-892, 2024.
Article
em En
| MEDLINE
| ID: mdl-38689526
ABSTRACT
SLC29A3 spectrum disorder, also known as histiocytosis-lymphadenopathy plus syndrome (HLPS), presents a wide variety of multi-systemic manifestations that can be mistaken for other conditions. Herein, we report a 9-year-old girl who presented with a complex clinical presentation since birth, including chronic generalized lymphadenopathy in association with hepatosplenomegaly, short stature, flexion contractures, hearing loss, hyperpigmentation, and heart anomalies. She was ultimately diagnosed with the SLC29A3 spectrum disorder.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas de Transporte de Nucleosídeos
Limite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
Pediatr Dermatol
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Irã