title: Lipoid proteinosis.
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.
authors.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
authors.forename: T
authors.initials: T
authors.lastname: Hamada
mesh_terms: D003937:Diagnosis, Differential; D016326:Extracellular Matrix Proteins / Q000235:genetics; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000235:genetics / Q000473:pathology / Q000628:therapy; D012871:Skin Diseases / Q000235:genetics / Q000473:pathology / Q000628:therapy
chemical_list: C490607:ECM1 protein, human; D016326:Extracellular Matrix Proteins