[Clinical and cellular studies in a patient with Cockayne syndrome].
Hypersensitivity to the lethal effect of ultraviolet light (UV) and other DNA-damaging agents has been observed in cells from patients affected by Cockayne syndrome, suggesting that this syndrome is deficient in the capability to repair damage in cellular DNA. We report a case showing the main clinical features of Cockayne syndrome in which the clinical and cellular photosensitivity described as typical for Cockayne syndrome is not present. These cytological results suggest that there is considerable clinical and cellular heterogeneity in Cockayne syndrome and that cellular sensitivity to UV might not be as essential for the diagnosis of Cockayne syndrome as previously thought.
Bianchi
C
C
Istituto Scientifico-Clinica Pediatrica III, Ospedale San Raffaele-Milano.
Petecca
M C
MC
Baricci
D
D
Lagomarsini
P
P
Stefanini
M
M
D000293:Adolescent; D003057:Cockayne Syndrome / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D005260:Female; D006801:Humans; D010787:Photosensitivity Disorders / Q000175:diagnosis; D010789:Phototherapy; D012174:Retinitis Pigmentosa / Q000150:complications; D012882:Skin Tests
Un caso di sindrome di Cockayne: caratteristiche cliniche e cellulari.