RESUMO
Cutaneous squamous cell carcinoma (SCC) is the second most common form of skin cancer. In most cases, non-invasive SCC has a good prognosis and is curable by surgical resection. Nevertheless, a small percentage of patients pose specific management problems due to the technical difficulty of maintaining function and aesthetics because of the size or location of the tumor. An emerging therapeutic approach with high-dose brachytherapy using a nonsealed rhenium-188 resin, commercially known as Rhenium-Skin Cancer Therapy®, has been shown to be highly effective in non-invasive carcinoma, up to a thickness of 2-3 mm.
RESUMO
Werner syndrome (WS; MIM#277700) or adult progeria, is a rare disease, associated with mutations of a single gene (RECQL2 or WRN), located on chromosome 8 (8p12). 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.