Pseudoxanthoma elasticum: report of two cases
An. bras. dermatol
; 89(5): 812-815, Sep-Oct/2014. graf
Article
em En
| LILACS
| ID: lil-720791
Biblioteca responsável:
BR1.1
ABSTRACT
Pseudoxanthoma elasticum is a rare inherited multisystem disorder that is characterized by a pathological mineralization of the elastic connective tissue, which involves predominantly the skin, eyes and cardiovascular system. Its cause lies on mutations in the ABCC6 gene, which lead to reduction or absence of the transmembrane transport ADP dependent protein (MRP6), causing an accumulation of extracellular material and subsequent deposition of calcium and other minerals in the elastic tissue. The authors report two cases of pseudoxanthoma elasticum, emphasizing its major clinical features and the importance of early diagnosis of the disorder, aiming for adequate therapeutic management of associated complications.
Palavras-chave
Texto completo:
1
Índice:
LILACS
Assunto principal:
Pseudoxantoma Elástico
Tipo de estudo:
Diagnostic_studies
/
Screening_studies
Limite:
Female
/
Humans
Idioma:
En
Revista:
An. bras. dermatol
Assunto da revista:
DERMATOLOGIA
Ano de publicação:
2014
Tipo de documento:
Article