Biomaterial Database

Delayed sensorineural deafness and skin carcinogenesis in a Japanese xeroderma pigmentosum group D patient. 1988

A Mamada, and S Kondo, and A Kawada, and Y Satoh, and Y Fujiwara

Department of Dermatology, School of Medicine, Tokyo Medical and Dental University, Japan.

A 65-year-old patient with xeroderma pigmentosum (XP), XP77TO, was assigned to complementation Group D by the cell-fusion study and comprised the fifth Group D case in Japan. The patient had mild solar sensitivity by age 7, dyspigmentation by 10 years, and he still currently has moderate symptoms. The skin phototest by 290, 300 and 305 nm monochromatic ultraviolet (UV) light revealed a delayed peak of erythema 48 h post-irradiation and lowered minimal erythemal doses. The XP77TO skin fibroblasts, as well as a reference Group D strain, exhibited the same 7-fold higher sensitivity to the lethal effect of 254 nm UV as did normal cells. Unscheduled DNA synthesis (UDS) induced in XP77TO cells by 254 nm UV (10 J/m2) was 42% of normal, falling into the Group D range of 25-50% UDS. In spite of such a similar cellular phenotype, XP77TO developed squamous cell carcinomas at 44 and 65 years of age and audiometric sensorineural deafness in a delayed fashion at advanced age.

UI	MeSH Term	Description	Entries
D007564	Japan	A country in eastern Asia, island chain between the North Pacific Ocean and the Sea of Japan, east of the Korean Peninsula. The capital is Tokyo.	Bonin Islands
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D011836	Radiation Tolerance	The ability of some cells or tissues to survive lethal doses of IONIZING RADIATION. Tolerance depends on the species, cell type, and physical and chemical variables, including RADIATION-PROTECTIVE AGENTS and RADIATION-SENSITIZING AGENTS.	Radiation Sensitivity,Radiosensitivity,Sensitivity, Radiation,Tolerance, Radiation,Radiation Sensitivities,Radiation Tolerances,Radiosensitivities,Sensitivities, Radiation,Tolerances, Radiation
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D004260	DNA Repair	The removal of DNA LESIONS and/or restoration of intact DNA strands without BASE PAIR MISMATCHES, intrastrand or interstrand crosslinks, or discontinuities in the DNA sugar-phosphate backbones.	DNA Damage Response
D005260	Female		Females
D006319	Hearing Loss, Sensorineural	Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.	Deafness Neurosensory,Deafness, Neurosensory,Deafness, Sensoryneural,Neurosensory Deafness,Sensorineural Hearing Loss,Sensoryneural Deafness,Cochlear Hearing Loss,Hearing Loss, Cochlear,Deafnesses, Neurosensory,Deafnesses, Sensoryneural,Neurosensory Deafnesses,Sensoryneural Deafness,Sensoryneural Deafnesses
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000367	Age Factors	Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time.	Age Reporting,Age Factor,Factor, Age,Factors, Age