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Elastin in diseases

J Uitto, L Ryhänen, P A Abraham

    The Journal of Investigative Dermatology
    |July 1, 1982
    PubMed
    Summary
    This summary is machine-generated.

    This review explores elastin diseases, focusing on skin conditions like cutis laxa and pseudoxanthoma elasticum. It highlights new evidence of elastin abnormalities in Marfan syndrome.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Dermatology

    Background:

    • Morphologic studies indicate elastic fiber abnormalities in various inherited and acquired diseases.
    • Advances in understanding elastin biology enable biochemical examination of these conditions.
    • Elastin diseases encompass a range of clinical manifestations affecting connective tissues.

    Purpose of the Study:

    • To review the current research status of elastin diseases.
    • To emphasize clinical conditions affecting the skin, including cutis laxa, pseudoxanthoma elasticum, and Buschke-Ollendorff syndrome.
    • To present novel findings demonstrating elastin abnormalities in Marfan syndrome.

    Main Methods:

    • Literature review of elastin disease research.
    • Biochemical analysis of elastin in affected individuals.

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  • Clinical case studies and genetic analysis.

    • Main Results:

    • Elastin abnormalities are implicated in several inherited and acquired diseases.
    • Cutis laxa, pseudoxanthoma elasticum, and Buschke-Ollendorff syndrome are key examples of elastin-related skin disorders.
    • New data suggests elastin abnormalities are present in Marfan syndrome.

    Conclusions:

    • Elastin research is advancing our understanding of connective tissue disorders.
    • Biochemical approaches are crucial for diagnosing and characterizing elastin diseases.
    • Further investigation into elastin abnormalities in Marfan syndrome is warranted.