The Genetic and Clinical Study of Pseudoxanthoma Elasticum.
- Author:
Sun Wook HWANG
;
Young Gyun KIM
- Publication Type:Original Article
- Keywords:
Pseudoxanthoma elasticum;
Incidence;
Classification
- MeSH:
Adult;
Angioid Streaks;
Axilla;
Classification;
Female;
Genetic Heterogeneity;
Groin;
Humans;
Incidence;
Jeollanam-do;
Male;
Neck;
Pseudoxanthoma Elasticum*;
Sex Ratio;
Skin;
Wills;
Young Adult
- From:Korean Journal of Dermatology
1985;23(3):346-354
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
A genetic and clinical study was done on 20 index cases and their families who had lived in Chonnam province, visited Chonnam University Hospital from 1968 through 1983, and were diagnosed as peudoxanthoma elasticum based on clinical and histopathological findings. In Chonnam province, pseudoxanthoma elsticum occurred in a incidence of more thar, one per 125,000. The male to female ratio was 1: 1.25 (8: 10) with only the cases of familial occurrence although the sex ratio was 1: l. 85 (7: 13) among 20 index cases. Among 8 index cases showing familial occurrence, 6 showed autosomal recessive inheritance with 5 Type 1 and 1 Type 2 whereas 2 showed the autosomal dominant inheritance with both of thern Type 2 (Pope), pointing out the genetic heterogeneity in pseudoxanthorna elsticum. The age of patients ranged from 12 to 42 years old at the time of their first visit to our hospital, but the age that the patients first recognized the disease onset ranged from 9 to 22 years old. The duration of t he disease was also variable ranging from 11/2 to 30 years. The angioid streaks were observed in 38g of the cases whose disease duration ranged from 11/2 to 20 years. The sites of skin lesions were the neck, axillae and groin in the order of frequency.
