Lipoid proteinosis

T. Hamada

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; and the Department of Dermatology, Kurume University School of Medicine, Kurume, Fukuoka, Japan

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T. Hamada,

T. Hamada

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First published: 11 December 2002

https://doi.org/10.1046/j.1365-2230.2002.01143.x

Citations: 115

: Takahiro Hamada, Department of Cell and Molecular Pathology, St John's Institute of Dermatology, St Thomas's Hospital, Lambeth Palace Road, London SE1 7EH, UK. Tel.: +44 20 7928 9292 extn 3316. Fax: +44 20 7922175. E-mail: [email protected]

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Abstract

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.

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Volume27, Issue8

November 2002

Pages 624-629

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