A CASE OF XERODERMA-PIGMENTOSUM COMPLEMENTATION GROUP-F WITH NEUROLOGICAL ABNORMALITIES

被引：38

作者：

MORIWAKI, S

NISHIGORI, C

IMAMURA, S

YAGI, T

TAKAHASHI, C

FUJIMOTO, N

TAKEBE, H

机构：

[1] SHIGA MED CTR ADULT DIS,DEPT DERMATOL,SHIGA,JAPAN

[2] KYOTO UNIV,FAC MED,DEPT EXPTL RADIOL,KYOTO 606,JAPAN

[3] SHIGA MED CTR ADULT DIS,DEPT NEUROL,SHIGA,JAPAN

来源：

BRITISH JOURNAL OF DERMATOLOGY | 1993年 / 128卷 / 01期

关键词：

D O I：

10.1111/j.1365-2133.1993.tb00154.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

We report a 48-year-old Japanese man suffering from xeroderma pigmentosum associated with mental retardation, cerebral atrophy and cerebellar ataxia. Cultured fibroblasts from an unexposed area of skin had reduced DNA repair capacity after UV irradiation, with higher sensitivity to UV than normal cells in colony-forming ability and host cell reactivation using herpes simplex virus. Genetic complementation tests by cell fusion with polyethylene glycol revealed that the patient belonged to group F. He died of bile duct cancer at the age of 50. This is the first report of an XP-F patient with neurological abnormalities.

引用

页码：91 / 94

页数：4

共 16 条

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CHANG, HR ;

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ISHIZAKI, K ;

DAI, H ;

KUAN, YZ ;

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JOURNAL OF RADIATION RESEARCH, 1991, 32 (02) :181-190

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