Case Reports   |    
Calcaneal Osteosarcoma Associated with Werner Syndrome A Case Report with Mutation Analysis*
Yoshiro Tsuji, M.D.†; Katsuyuki Kusuzaki, M.D.‡; Kyoseki Kanemitsu, M.D.§; Takehisa Matsumoto, PH.D., D.V.M.#; Yuichi Ishikawa, M.D.**; Yasusuke Hirasawa, M.D.‡
View Disclosures and Other Information
Investigation performed at Yokaichi National Hospital, Shiga, Japan
*No benefits in any form have been received or will be received from a commercial party related directly or indirectly to the subject of this article. No funds were received in support of this study.
†Department of Orthopaedic Surgery, Seika National Health Insurance Hospital, 7 Sunakoda Hohzono, Seika-cho, Soraku-gun, Kyoto 619-0241, Japan.
‡Department of Orthopaedic Surgery, Kyoto Prefectural University of Medicine, 465 Kajiicho, Kawaramachi-Hirokoji Street, Kamigyo-ku, Kyoto 602-0841, Japan.
§Department of Orthopaedic Surgery, Yokaichi National Hospital, 255 Gochicho, Yokaichi, Shiga 527-8505, Japan.
#AGENE Research Institute, 200 Kajiwara, Kamakura, Kanagawa 247-0063, Japan.
**Department of Pathology, Cancer Institute, 1-37-1 Kami-ikebukuro, Toshima-ku, Tokyo 170-8455, Japan.

J Bone Joint Surg Am, 2000 Sep 01;82(9):1308-1308
5 Recommendations (Recommend) | 3 Comments | Saved by 3 Users Save Case


In 1934, Oppenheimer and Kugel established the eponym of Werner syndrome13. This disease, which occurs with equal frequency in males and females, usually becomes manifest in the decade after adolescence, when previously normal development is altered by graying of the hair, impairment of normal growth, and loss of subcutaneous tissue and muscle mass in the extremities. The limbs become slender, and the trunk becomes disproportionately stocky. The shiny, atrophic, hyperkeratotic skin, unpadded by subcutaneous fat, is pulled tightly over the osseous prominences. Painful, circumscribed callosities occur, especially on the soles of the feet, and indolent ulcers appear in the regions of the malleoli of the ankles, the Achilles tendons, and the heels and toes. Baldness appears, and the hair thins in the regions of the eyebrows, face, axillae, and pubis. The facial appearance is often characteristically altered as the taut skin of the cheeks causes beaking of the nose, as shallow orbits and loss of periorbital connective tissue produce the appearance of proptosis, and as artificial lenses are required after the extraction of rapidly progressing cataracts. A peculiar thickening and vascularity of the vocal cords is associated with a weak, high-pitched voice. Arteriosclerosis is strikingly premature, and sexual underdevelopment results in sterility. Diabetes mellitus is common, and the skeleton is frequently affected by osteoporosis and hypertrophic arthritis. The fully developed syndrome creates a remarkably constant picture of premature senility, short stature, slender extremities, a stocky trunk, a beak-nosed face, and scleroderma-like changes14.
Figures in this Article

    First Page Preview

    View Large
    First page PDF preview
    Sign In to Your Personal ProfileSign In To Access Full Content
    Not a Subscriber?
    Get online access for 30 days for $35
    New to JBJS?
    Sign up for a full subscription to both the print and online editions
    Register for a FREE limited account to get full access to all CME activities, to comment on public articles, or to sign up for alerts.
    Register for a FREE limited account to get full access to all CME activities
    Have a subscription to the print edition?
    Current subscribers to The Journal of Bone & Joint Surgery in either the print or quarterly DVD formats receive free online access to JBJS.org.
    Forgot your password?
    Enter your username and email address. We'll send you a reminder to the email address on record.

    Forgot your username or need assistance? Please contact customer service at subs@jbjs.org. If your access is provided
    by your institution, please contact you librarian or administrator for username and password information. Institutional
    administrators, to reset your institution's master username or password, please contact subs@jbjs.org


    Accreditation Statement
    These activities have been planned and implemented in accordance with the Essential Areas and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint sponsorship of the American Academy of Orthopaedic Surgeons and The Journal of Bone and Joint Surgery, Inc. The American Academy of Orthopaedic Surgeons is accredited by the ACCME to provide continuing medical education for physicians.
    CME Activities Associated with This Article
    Submit a Comment
    Please read the other comments before you post yours. Contributors must reveal any conflict of interest.
    Comments are moderated and will appear on the site at the discretion of JBJS editorial staff.

    * = Required Field
    (if multiple authors, separate names by comma)
    Example: John Doe

    Related Content
    The Journal of Bone & Joint Surgery
    JBJS Case Connector
    Topic Collections
    Related Audio and Videos
    PubMed Articles
    Clinical Trials
    Readers of This Also Read...
    JBJS Jobs
    New York - Columbia University Medical Ctr/Dept of Ortho.Surg
    OK - The University of Oklahoma
    PA - Thomas Jefferson University