Werner syndrome in members of a family presenting as scleroderma
M.B.
Owlia, MD R. Sami, MD
Department of Internal Medicine Shahid Sadooghi, Yazd University of Medical Sciences
Werner syndrome in members of a family presenting as scleroderma
M.B.
Owlia, MD R. Sami, MD
Department of Internal Medicine Shahid Sadooghi, Yazd University of Medical Sciences
Introduction: Some genetic disorders may be misdiagnosed as routine diseases. This is true also for Werner’s syndrome which may mimic scleroderma.
Werner’s syndrome typically begins with graying of hairs in second decade of life and skin changes, hoarseness, early cataract, leg ulcer and diabetes ensue before age 34. Patients with Werner’s syndrome are prone to a variety of malignancies and accelerated atherosclerosis.
Case: Here in we present a 32 years old lady with Werner’s syndrome who was under extensive evaluation due to hoarseness. Skin stiffening was the leading cause of referral to us. Constellation of symptoms along with family history of similar condition in her sisters denoted the presence of Werner’s syndrome as the cause of condition.
Conclusion: Early cataract, diabetes in early ages, family marriage and positive family history are the main symptoms that a systemic scleroderma patient should remind Werner syndrome to the practitioner.
Key words: Werner Syndrome – Aging Premature – Scleroderma, Diffuse