Conradi–Hünermann–Happle Syndrome: A Novel Heterozygous Missense Mutation, c.204G>T (p.W68C)
Article first published online: 11 JUN 2014
© 2014 Wiley Periodicals, Inc.
Volume 31, Issue 4, pages 493–496, July/August 2014
How to Cite
Lambrecht, C., Wouters, C., Van Esch, H., Moens, P., Casteels, I. and Morren, M.-A. (2014), Conradi–Hünermann–Happle Syndrome: A Novel Heterozygous Missense Mutation, c.204G>T (p.W68C). Pediatric Dermatology, 31: 493–496. doi: 10.1111/pde.12336
- Issue published online: 14 JUL 2014
- Article first published online: 11 JUN 2014
Conradi–Hünermann–Happle syndrome (X-linked dominant chondrodysplasia punctata, CDPX2 [Online Mendelian Inheritance in Man 302960]) is a rare genodermatosis that presents with blaschkolinear ichthyosis, cicatricial alopecia, chondrodysplasia punctata, asymmetric shortening of the bones, and cataracts. In this case report we describe a child presenting with a patterned alopecia in which supplementary signs and clinical examination of the mother led to the suspicion of Conradi-Hünermann-Happle syndrome. Mutation analysis revealed a heterozygous novel missense mutation, c.204G>T (p.W68C), in exon 2.