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 .

Diseases
Validation

Diseases presenting "atherosclerosis" symptom

achondroplasia

acute rheumatic fever

adrenal incidentaloma

alexander disease

aromatase deficiency

benign recurrent intrahepatic cholestasis

cadasil

classical phenylketonuria

congenital adrenal hyperplasia

congenital toxoplasmosis

cushing syndrome

erdheim-chester disease

familial mediterranean fever

harlequin ichthyosis

hereditary cerebral hemorrhage with amyloidosis

inclusion body myositis

sneddon syndrome

werner syndrome

zellweger syndrome

This symptom has already been validated