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Clinical characteristics of three patients with UV S syndrome, a photosensitive disorder with defective DNA repair
Author(s) -
ITOH T.,
YAMAIZUMI M.,
ICIHASHI M.,
HIROOKA M.,
MATSUI T.,
MATSUNO M.,
ONO T.
Publication year - 1996
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1046/j.1365-2133.1996.d01-922.x
Subject(s) - xeroderma pigmentosum , cockayne syndrome , dermatology , sunburn , medicine , erythema , ataxia telangiectasia , premature aging , dna repair , genetics , dna , biology , dna damage
Summary Recently, we established a new category of photosensitive disorder termed UV S syndrome. Cells from patients with UV s syndrome have a similar UV sensitivity as xeroderma pigmentosum |XP) cells, but have a normal level of unscheduled DNA synthesis (UPS) unlike XP. UV s 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, UV s syndrome is a new hereditary photosensitive disorder with clinical manifestations similar to a mild form of XP but showing the cellular characteristics of CS.