Abstract
A 45-year-old Japanese man presented to our department with multiple calli on the soles. He has a past medical history of hyperparathyroidism, bilateral ocular cataracts, dyslipidemia, and osteoporosis. He had a lifelong history of short stature with muscle atrophy from childhood. He developed scleroderma on the fingers in his teenage years. Around his 20s, he suffered from hair loss as well as gray hair. In his 40s, the soles of his feet became severely sclerotic. At presentation, he had a short stature associated with a bird-like face and gray hair. We presumed Werner syndrome because such features are typical of this condition. Laboratory studies revealed primary hypogonadism and an X-ray examination showed flame-like calcification of the Achilles' tendon. Ultrasonography demonstrated fatty liver, a thyroid cyst in the right lobe measuring 6 mm, and a nodule in the left lobe measuring 9 mm. A genetic test revealed a c.3139-1G＞C mutation in both alleles of the WRN gene. We diagnosed him with Werner syndrome based on the diagnostic criteria, which consisted of 3 major parts, namely cardinal signs and symptoms, other signs and symptoms, and genetic testing. Dermatologists may play an important role in diagnosing Werner syndrome because the patients are susceptible to dermatological symptoms.
