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Werner’s Syndrome and Human Aging pp 57–120Cite as

Werner’s Syndrome: A Review of its Symptomatology, Natural History, Pathologic Features, Genetics and Relationship to the Natural Aging Process

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Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 190))

Abstract

Werner’s syndrome was first described in 1904 by Otto Werner in his doctoral thesis, “Uber Katarakt in Verbindung mit Sklerodermie” (“Cataract in combination with scleroderma”) (137). He reported four sibs with similar clinical findings: shortness of stature; senile appearance; graying of the hair beginning at about age 20; cataracts appearing during the third decade; skin changes (tautness, atrophy, hyperkeratoses and ulceration) designated as scleroderma and primarily involving the feet and, to a lesser degree, the hands; joint deformities associated with the skin abnormalities; atrophy of the muscles and connective tissues of the extremities; and early cessation of menstruation. Werner was impressed principally by the cataracts, skin changes, senile appearance, and graying of the hair and attributed the condition to a “failure” of the cells derived from the ectoderma. Although he knew that the features displayed by the affected members of the family represented a new and distinct entity, he related this condition to one described by Rothmund (106) in which juvenile cataracts were found together with skin changes. The implied association of these two syndromes and the identification of the skin alterations in Werner’s cases as scleroderma were sources of confusion for many years, and it was not until the appearance of the paper by Oppenheimer and Kugel in 1934 (94) and of the comprehensive study by Thannhauser in 1945 (131) that the two syndromes were clearly delineated and the character of the skin changes defined.

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Authors and Affiliations

  1. Laboratory of Chemical Biology, National Institute of Arthritis and Metabolic Disease, Bethesda, MD, USA

    Charles J. Epstein

  2. Department of Pathology, University of Washington, Seattle, WA, USA

    George M. Martin

  3. Division of Medical Genetics, Department of Medicine University of Washington, Seattle, WA, USA

    Amelia L. Schultz & Arno G. Motulsky

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  1. Charles J. Epstein
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  2. George M. Martin
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  3. Amelia L. Schultz
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  4. Arno G. Motulsky
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Editors and Affiliations

  1. School of Medicine, University of Washington, Seattle, Washington, USA

    Darrell Salk  & George M. Martin  & 

  2. Kobe University School of Medicine, Kobe, Japan

    Yoshisada Fujiwara

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© 1985 Plenum Press, New York

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Epstein, C.J., Martin, G.M., Schultz, A.L., Motulsky, A.G. (1985). Werner’s Syndrome: A Review of its Symptomatology, Natural History, Pathologic Features, Genetics and Relationship to the Natural Aging Process. In: Salk, D., Fujiwara, Y., Martin, G.M. (eds) Werner’s Syndrome and Human Aging. Advances in Experimental Medicine and Biology, vol 190. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-7853-2_3

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  • DOI: https://doi.org/10.1007/978-1-4684-7853-2_3

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4684-7855-6

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