Abstract
BACKGROUND: Werner syndrome (WS) is a rare autosomal recessive disorder characterized by premature aging in adults. Although not sufficient to diagnose WS, persistent short stature and alteration of the dentition are among the few early signs that appear at puberty and can lead to a suspected diagnosis. OBJECTIVE: The study aimed at quantifying the signs of WS skin aging through biophysical parameters to find new parameters to be applied together with clinical observations in order to diagnose the disease early. PATIENTS AND METHODS: The skin disorders induced by the disease were studied using noninvasive techniques: Tewameter TM300, Corneometer CM825, Skin-pH-Meter PH900, Mexameter MX16, Visioscan VC98, and Cutometer MPA580. Twenty-four patients divided into young group, WS group, and elderly group were recruited for the study. RESULTS: The WS skin is quite similar to aged skin, with some differences concerning the barrier function and skin elasticity; for instance, a WS patient of 30 years of age has the same skin roughness of a 50/60 years old subject with a more severe skin condition leading to higher dryness, high transepidermal water loss, and less distensibility correlating with skin indurations. CONCLUSION: In patients with WS, the biophysical parameters can quantify the damage induced on the skin by the disease. In order to stage the degree of the disease, biophysical parameters could be used in the future as a diagnostic procedure in the initial stages of the disease as they may reveal lesions not yet clinically perceptible or in advanced stages.