Epidemiology Research Today is a free monthly online journal that collates and summarizes the latest research about Epidemiology, including details on twin studies, statistics, environmental and genetic factors.

Epidemiology and clinical aspects of Werner's syndrome in North Sardinia: description of a cluster.

Masala MV, Olivieri C, Pirodda C, Montesu MA, Cuccuru MA, Pruneddu S, Danesino C, Cerimele D

Department of Dermatology, University of Sassari, Sassari, Italy. mvmasala@uniss.it

Werner syndrome (WS, MIM#277700) is a very rare autosomal recessive disorder. WS clinical signs include altered distribution of subcutaneous fat, juvenile bilateral cataracts, a mask-like face and bird-like nose, trophic ulcers of the feet, diabetes mellitus, and premature atherosclerosis. The habitus is characteristic, with short stature, stocky trunk and slender extremities. WS frequency has been roughly estimated to be 1: 100,000 in Japan and 1: 1,000,000-1: 10,000,000 outside of Japan. The only exception to the latter data can be seen in the clustering of WS in Sardinia. Since 2001, 5 new cases have been observed: 4 members of the same family and 1 sporadic case. Therefore, since 1982 the total number of cases described in North Sardinia amounts to 18: 15 are familial (11 members of the same family group) and 3 sporadic. A short clinical description of the 5 new cases is reported.

Published 16 May 2007 in Eur J Dermatol, 17(3): 213-6.
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