Korean J Dermatol.
2007 Dec;45(12):1294-1297.
A Case of X-linked Dominant Chondrodysplasia Punctata
- Affiliations
-
- 1Department of Dermatology, Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea. sajajang@gmail.com
- 2Department of Dermatology, Seoul Paik Hospital, Inje University College of Medicine, Seoul, Korea.
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.
