Chapter 25 - Werner's Syndrome

Abstract

This chapter describes Werner's syndrome—adult progeria—which is a rare, recessively inherited illness characterized by growth retardation, premature graying of hair, alopecia, cataracts, diabetes mellitus, leg ulcers, muscle atrophy, osteoporosis, soft tissue calcification, and a high incidence of malignancy. About 400 cases of Werner's syndrome have been reported throughout the world, half of whom are of Japanese origin. There are several major characteristic signs and symptoms of Werner's syndrome, such as characteristic habitus and stature, scleroderma-like skin changes, precocious aging, endocrinologie abnormalities, malignancy, mental or neurologic abnormalities, and consanguinity. As nothing is currently known about the pathogenesis of Werner's syndrome, most therapeutic efforts have been directed toward specific management of the cataracts, skin ulcers, and the diabetes mellitus. Cataracts in Werner's syndrome are always bilateral. The average life span of patients with Werner's syndrome is 43.5 years. The two principal causes of death are malignancies and arteriosclerosis (myocardial and cerebrovascular accidents). However, a thorough understanding of the disease and a careful watch for and treatment of malignant tumors, diabetes mellitus, and cardiovascular and cerebrovascular diseases may prolong the life of patients with this syndrome.