The Genetic and Clinical Studies of Xeroderma Pigmentosum.
- Author:
Sun Wook HWANG
;
Young Eun YOO
;
Young Pio KIM
- Publication Type:Original Article
- MeSH:
Age of Onset;
Carcinoma, Basal Cell;
Carcinoma, Squamous Cell;
Chalazion;
Dermatology;
Female;
Gwangju;
Humans;
Ichthyosis*;
Jeollanam-do;
Keratosis, Actinic;
Korea;
Male;
Parturition;
Photophobia;
Pterygium;
Sex Ratio;
Skin;
Wills;
Xeroderma Pigmentosum*
- From:Korean Journal of Dermatology
1982;20(6):879-884
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Genetic and clinical observations were recorded on 16 patients with xeroderma pigmentosum, 14 of them having visited the Department of Dermatology, Chonnam National University Hospital, Kwangju, Korea from 1968 through 1982, and 3 of them having visited the Department of Dermatology, Chosun University Hospital located in the same city during same period(one patient was duplicated). Xeroderma pigmentosum was found to occur with a frequency higher than one in 183,000 births in Chonnam province, Korea. It waa recognized that xeroderma pigmentosum is a disease of autosomal recessive inheritance. The sex ratio of xeroderma pigmentosum was male to female l. 7 to 1. The age of onset was between 5 months and 10 years, and the age when the patients visited the hospital for the first time was 6 months and 25 years. The skin malignancies were observed in 9 patients, among which squamous cell carcinomas occurred in 6, basal cell carcinomas in 2, and actinic keratosis in l. The associated ocular abnormalities were photophobia in 4 patients, chalazion in 1, blepharoconjunctivitis in 1, pterygium in 1 and squamous cell carcinomas in 1. Only cerebral galsy as a neurological abnormality was observed in 1 patient.
