Intertriginous Xanthoma in an Infant with Familial Hypercholesterolemia / 대한피부과학회지
Korean Journal of Dermatology
;
: 178-181, 2014.
Artículo
en Coreano
| WPRIM
| ID: wpr-192881
ABSTRACT
Familial hypercholesterolemia is an autosomal dominant inherited metabolic disease characterized by high serum low-density lipoprotein (LDL) cholesterol concentrations, and xanthoma formation. There are multiple types of xanthomas, such as eruptive, tendinous, tuberous, and planar. Intertriginous xanthomas are rare, but, if present, are typically associated with familial homozygous hypercholesterolemia. We here report on a 15-month-old infant who presented with multiple yellowish linear patches and plaques on the intertriginous areas. Serum lipoprotein electrophoresis showed a marked increase in beta-fraction, suggesting type IIa hyperlipoproteinemia. Histopathology showed numerous aggregates of foam cells in the dermis. We performed DNA analysis and revealed the presence of an LDL receptor gene mutation. In summary, we here report an interesting case of an infant with intertriginous xanthoma. This condition is so rare that it has not been reported in the Korean dermatologic literature before.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
ADN
/
Receptores de LDL
/
Xantomatosis
/
Colesterol
/
Dermis
/
Electroforesis
/
Células Espumosas
/
Hipercolesterolemia
/
Hiperlipoproteinemia Tipo II
/
Lipoproteínas
Límite:
Humanos
/
Lactante
Idioma:
Coreano
Revista:
Korean Journal of Dermatology
Año:
2014
Tipo del documento:
Artículo
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