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. We also review evidence for founder mutations among various ethnic/geographic groups. Founder WRN mutations had been previously reported in Japan and Northern Sardinia. Our Registry now suggests characteristic mutations originated in Morocco, Turkey, The Netherlands and elsewhere.

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.

The monitoring of MPA trough levels with EMIT appears to be a poor predictor of efficacy or toxicity. In contrast, it is a useful tool to evaluate the degree of therapeutic compliance.

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