Xeroderma pigmentosum.

Abstract

To describe the features of Xeroderma pigmentosum observed in the stage 3 of the disease. Case series. Mayo Hospital Lahore, from December 2001 to September 2008. All patients diagnosed with Xeroderma pigmentosum stage 3 in the outpatient department of the study centre, were included. The age at first presentation, tumour sites, histology, recurrence rate, new tumour formation rate and the number of biopsies taken in a single session were recorded. The follow-up time was seven years. There were 25 patients including 15 males and 10 females. The mean age at initial presentation with the tumour was 20.4 years. The maximum number of biopsies taken from one patient during the same operation was 15 (mean=4). Complete tumour clearance was achieved in 15 patients and 3 patients were inoperable. Altogether, 70% tumours were basal cell carcinomas (BCC). The average interval for the development of a new tumour was 6 months. Twenty (80%) of the tumours were on the face, one was on the back and 3 on the forearms. Thirteen patients had ocular complications. Fifteen had a first degree relative afflicted. All wounds were closed primarily or with split grafts. There was a family history. The tumours were mostly BCCs. The rate of new tumour formation and recurrence was exceptionally high.