WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.

Werner syndrome (WS) is an autosomal recessive segmental progeroid syndrome caused by null mutations at the WRN locus, which codes for a member of the RecQ family of DNA helicases. Since 1988, the International Registry of Werner syndrome had enrolled 130 molecularly confirmed WS cases from among 110 worldwide pedigrees. We now report 18 new mutations, including two genomic rearrangements, a deep intronic mutation resulting in a novel exon, a splice consensus mutation leading to utilization of the nearby splice site, and two rare missense mutations.

[Post-radiotherapy telangiectasias. Treatment with pulsed-dye laser. Sequential histological studies].

Chronic radiodermatitis after radiotherapy is a frequent sequela that may be worrying for the patient. Few cases have been published in the literature in which pulsed-dye laser has been used in the treatment of telangiectasias that appeared after radiotherapy for breast cancer. We present a female patient with radiodermatitis on the neck after radiotherapy for nasopharyngeal carcinoma.

Superficial mucoceles and lichenoid graft versus host disease: report of three cases.

Superficial mucoceles are subepithelial extravasations of sialomucin that occur at the epithelial-connective tissue interface and are directly related to minor salivary glands. They have been described in association with oral lichen planus and, exceptionally, with chronic graft versus host disease. Three patients who underwent an allogeneic bone marrow transplantation for a chronic myelogenous leukaemia presented multiple superficial mucoceles and an oral lichenoid graft versus host disease.