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[The Werner syndrome]

T Gottesmann, L Zala, A Vogel

    Schweizerische Medizinische Wochenschrift
    |February 16, 1980
    PubMed
    Summary
    This summary is machine-generated.

    Werner's syndrome, a rare genetic disorder causing premature aging, affects young adults with distinctive physical features. This case report details a 29-year-old diagnosed with Werner's syndrome, highlighting typical symptoms.

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    Area of Science:

    • Genetics
    • Gerontology
    • Dermatology

    Background:

    • Werner's syndrome (WS), or "progeria adultorum," is a rare autosomal recessive disorder.
    • It leads to the appearance of accelerated aging in affected individuals, typically manifesting in young adulthood.
    • The pathogenesis of WS remains largely unknown, necessitating further research and case studies.

    Observation:

    • The case involves a 29-year-old female presenting with calf cramps.
    • Clinical examination revealed characteristic signs of Werner's syndrome.
    • These signs included atrophy of distal extremities and face, scleropoikiloderma, hyperkeratosis of soles, and a "bird-like" facial expression.

    Findings:

    • The patient exhibited multiple hallmark features of Werner's syndrome.

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  • These symptoms align with the known clinical presentation of this premature aging disorder.
  • The diagnosis was confirmed based on the constellation of clinical findings.

    • Implications:

    • This case contributes to the understanding of Werner's syndrome clinical variability.
    • It underscores the importance of recognizing characteristic symptoms for early diagnosis.
    • Further research into WS pathogenesis is crucial for developing potential therapeutic strategies.