Portal de Periódicos da CAPES

Lipoid proteinosis

2002; Oxford University Press; Volume: 27; Issue: 8 Linguagem: Inglês

10.1046/j.1365-2230.2002.01143.x

1365-2230

Takahiro Hamada,

Urologic and reproductive health conditions

Summary Lipoid proteinosis is a rare, autosomal recessive disorder that presents in early infancy with hoarseness, followed by pox‐like and acneiform scars, along with infiltration and thickening of the skin and certain mucous membranes. Histological and ultrastructural examination reveals widespread deposition of hyaline‐like material and disruption/reduplication of basement membrane around blood vessels and at the dermal‐‐epidermal junction. Recently, lipoid proteinosis was mapped to 1q21 and pathogenetic loss‐of‐function mutations were identified in the extracellular matrix protein 1 gene (ECM1). This article reviews the molecular basis of lipoid proteinosis and reassesses the clinico‐pathological features of this disorder in light of the new genetic discoveries.