Calcaneal osteosarcoma associated with Werner syndrome: a case report with mutation analysis

Y Tsuji, K Kusuzaki, K Kanemitsu, T Matsumoto… - JBJS, 2000 - journals.lww.com
Y Tsuji, K Kusuzaki, K Kanemitsu, T Matsumoto, Y Ishikawa, Y Hirasawa
JBJS, 2000journals.lww.com
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 …
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
* 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.
Lippincott Williams & Wilkins
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