Pseudoxanthoma elasticum: report of two cases

AUTOR(ES)

Marques, Gabriela Franco, Nakandakari, Sadamitsu, Coelho, Ana Paula Cota Pinto, Nigro, Maria Helena Mazzi Freire, Sabage, Josmar

FONTE

An. Bras. Dermatol.

DATA DE PUBLICAÇÃO

2014-09

RESUMO

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.

Documentos Relacionados

• Pseudoxanthoma elasticum: Mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter
• Ultrastructural aspects of pseudoxanthoma elasticum
• Autosomal dominant pseudoxanthoma elasticum
• Pseudoxanthoma elasticum (Grönblad-Strandberg syndrome).
• Pseudoxanthoma elasticum presenting with myocardial infarction.