Lipoid proteinosis |
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Authors: | Hamada T |
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Affiliation: | Department of Cell and Molecular Pathology, St John's Institute of Dermatology, The Guy's, King's College and St Thomas' Hospitals' Medical School, St. Thomas Hospital; London, UK. takahiro_hamada@yahoo.co.uk |
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Abstract: | 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. |
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