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Buschke-Ollendorf syndrome. An electron microscopic study.

J L Reymond, P Stoebner, J C Beani

    Dermatologica
    |January 1, 1983
    PubMed
    Summary

    Buschke-Ollendorf syndrome, a rare genetic disorder, affects identical twins. Ultrastructural analysis reveals abnormal elastic fibers and fibroblasts, suggesting juvenile elastoma as a more fitting term.

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    Area of Science:

    • Dermatology
    • Genetics
    • Pathology

    Background:

    • Buschke-Ollendorf syndrome is a rare inherited connective tissue disorder.
    • Characterized by skin abnormalities (dermatofibrosis lenticularis disseminata) and bone anomalies (osteopoikilosis).

    Observation:

    • Presents two identical twins diagnosed with Buschke-Ollendorf syndrome.
    • Detailed ultrastructural examination of affected tissues was performed.

    Findings:

    • Elastic fibers exhibit unusual clumps of electron-lucent elastin material.
    • Fibroblasts display enlarged endoplasmic reticulum with abnormal fibrillar content.
    • The term 'juvenile elastoma' is proposed as a more accurate descriptor than 'dermatofibrosis'.

    Implications:

    • The findings provide new insights into the ultrastructural pathology of elastic tissue defects.
    • Suggests a potential reclassification of the condition under the term 'juvenile elastoma'.
    • Further research into the pathogenesis of the elastic defect is warranted.

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