Pseudoxanthoma elasticum: report of two cases
An. bras. dermatol
;
89(5): 812-815, Sep-Oct/2014. graf
Artículo
en Inglés
| LILACS
| ID: lil-720791
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.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Seudoxantoma Elástico
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Límite:
Femenino
/
Humanos
Idioma:
Inglés
Revista:
An. bras. dermatol
Asunto de la revista:
Dermatologia
Año:
2014
Tipo del documento:
Artículo
País de afiliación:
Brasil
Institución/País de afiliación:
Instituto Lauro de Souza Lima/BR
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