Leg ulcer in Werner syndrome (adult progeria): a case report.

[werner syndrome]

Werner syndrome (WS ; MIM #277700 ) or adult progeria , is a rare disease , associated with mutations of a single gene (RECQL 2 or WRN ), located on chromosome 8 (8 p 12 ). It codes a DNA-helicase , whose defects cause genomic instability . The highest incidences are reported in Japan and Sardinia (Italy ). On this major island of the Mediterranean Basin , the WS cases have been observed in the northern areas . The authors describe the apparently first case reported in southern Sardinia , a 51 -year -old woman , who was born in and resides in the province of Cagliari . She presented with a 9 -year history of an intractable leg ulcer and other characteristic symptoms , including "bird-like " face , high-pitched voice , premature greying , short stature , abdominal obesity in contrast with thin body type , scleroderma -like legs , decreased muscle mass , diabetes , atherosclerosis , and premature menopause . A specialized genetic Institute of Research (IRCCS-IDI , Rome ) confirmed the clinical diagnosis . There is no cure or specific treatment and patients must be periodically screened for an increased risk of cardiovascular and cerebrovascular disease and malignancies . Among the many findings , leg ulcers significantly affect the patient 's quality of life . This problem may send the patient to the dermatologist , who finally suspects the diagnosis . Poor response to medical treatment may require aggressive repeated surgery , with poor or temporary results .

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werner syndrome

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