A Case of X-linked Dominant Chondrodysplasia Punctata.
- Author:
Woo Seok CHOI
1
;
Yoo Seok KANG
;
Hyun Su PARK
;
Sang Jai JANG
;
Un Ha LEE
Author Information
1. Department of Dermatology, Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea. sajajang@gmail.com
- Publication Type:Case Report
- Keywords:
Ichthyosis;
X-linked dominant chondrodysplasia punctata
- MeSH:
Chondrodysplasia Punctata*;
Congenital, Hereditary, and Neonatal Diseases and Abnormalities;
Female;
Humans;
Ichthyosis;
Nose;
Skin;
Weights and Measures
- From:Korean Journal of Dermatology
2007;45(12):1294-1297
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
X-linked dominant chondrodysplasia punctata is a rare congenital disorder characterized by transient punctate epiphyseal calcifications and ichthyotic skin changes, usually resolving during early infancy. We experienced a baby girl born with a thickened and diffusely red integument with adherent scales following the lines of Blaschko and punctata calcification, flat nose. We report a case of condrodysplasia punctata, X-linked dominant type which was confirmed with gene study.
