Xeroderma pigmentosum group D patient bearing lentigo maligna without neurological symptoms.
A 35-year-old Japanese female patient with xeroderma pigmentosum (XP), registered as XP114TO, was assigned to complementation group D by the cell fusion complementation test. The patient had manifested moderate solar sensitivity and freckles by the age of 6 years. The skin phototest using 290- and 300-nm monochromatic ultraviolet (UV) light revealed slightly lowered minimal erythema doses at 24 h after irradiation. The XP114TO skin fibroblasts exhibited about the 6-fold higher sensitivity to the lethal effect of 254-nm UV as did normal cells. Unscheduled DNA synthesis (UDS) induced in XP114TO cells by 254-nm UV (10 J/m2) was 33% of normal, falling into the group D range of 25-50% UDS. The patient developed lentigo maligna on the right side of the nose. Unlike the typical XP group D cases in the West, she showed no neurological abnormalities.
Fukuro
S
S
Department of Dermatology, School of Medicine, Tokyo Medical and Dental University, Japan.
Yamaguchi
J
J
Mamada
A
A
Kondo
S
S
Satoh
Y
Y
D000328:Adult; D005153:Facial Neoplasms / Q000235:genetics / Q000473:pathology*; D005260:Female; D005816:Genetic Complementation Test; D006801:Humans; D007564:Japan; D007911:Lentigo / Q000473:pathology; D008545:Melanoma / Q000235:genetics / Q000473:pathology*; D009422:Nervous System Diseases / Q000209:etiology; D012878:Skin Neoplasms / Q000235:genetics / Q000473:pathology*; D014466:Ultraviolet Rays / Q000009:adverse effects; D014983:Xeroderma Pigmentosum / Q000150:complications / Q000235:genetics / Q000473:pathology*