ISSN:
1365-2133
Source:
Blackwell Publishing Journal Backfiles 1879-2005
Topics:
Medicine
Notes:
Recently, we established a new category of photosensitive disorder termed UVS syndrome. Cells from patients with UVs syndrome have a similar UV sensitivity as xeroderma pigmentosum |XP) cells, but have a normal level of unscheduled DNA synthesis (UPS) unlike XP. UVs syndrome is distinct from Cockayne syndrome ICS) or XP including XP variant (XP-V), as determined by studies of genetic factors using cell fusion, microinjection. and postreplication repair assays. In this study, we identified three Japanese patients with IIV syndrome: an 11-year-old girl, a 17-year-old male, and an 8-year-old boy. The first two patients were siblings, while the third was a case from a different family. All of these patients exhibited acute recurrent sunburn. Common clinical manifestations of these patients were slight erythema and dryness. a number of freckles on sun-exposed areas, and slight telangiectasia only seen on the cheek and nose. Patient J showed a lowered minimal erythema dose between 280 and 300 nm. The patients' fibroblasts showed similar characteristics to those in CS. such as UV sensitivity, and a failure of RNA synthesis (RRS) after UV irradiation, despite a normal level of UDS. Thus, UVs syndrome is a new hereditary photosensitive disorder with clinical manifestations similar to a mild form of XP but showing the cellular characteristics of CS.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1046/j.1365-2133.1996.d01-922.x
