Advertisement Signs, symptoms: The first sign is the absence of a teenage growth spurt. Other characteristics include short stature, wrinkled skin, baldness, muscular atrophy, a high-pitched voice, graying hair, cataracts and diabetes.
Diagnosis: There is no specific test to diagnose Werner syndrome. A diagnosis usually is based on signs and symptoms, although a simple blood test that reveals abnormalities in blood sugar and cholesterol would support a diagnosis. Molecular genetic testing for the WRN gene, which is associated with Werner syndrome, is available on a research basis.
Management: The syndrome is managed by treating skin ulcers, controlling diabetes, taking cholesterol-lowering drugs, undergoing surgery for cataracts and treating malignancies. Death usually occurs when patients are 30 to 50 years old.
Case report: The Indian Journal of Dermatology, Venereology and Leprology reported in 1998 that a 41-year-old man presented with erosions, ulcers and keratosis of the Achilles tendon. He was short and had features of premature aging, sclerosis of the skin on his arms and legs, and hypogonadism. His head was small with a beak-like nose. He also had diabetes, osteoporosis, calcification of blood vessel walls and kidney problems. All signs pointed to Werner syndrome.
