A family with Fabry disease diagnosed by a single angiokeratoma.

This case presents a 39-year-old gentleman with a single angiokeratoma on the abdomen. Because of a family history of early onset cardiac disease, testing for Fabry disease was performed and a mis-sense mutation (A143T) in the Fabry gene confirmed the diagnosis. The unusual aspect of this case is that the patient otherwise had normal health.

Efficacy of topical PUVA soaks for palmoplantar dermatoses: an audit.

Background: With a lack of evidence base for individual topical PUVA protocols, treatment is presently based on the consensus of current practice. This audit was designed to investigate the effectiveness of topical PUVA for palmoplantar dermatoses.

Methods: Phototherapy notes were reviewed on all patients who received hand and/or foot PUVA 2002-2007 in the Northern Health and Social Care Trust (NHSCT), Northern Ireland.