Ichthyosis Prematurity Syndrome: A Case Report and Review of Known Mutations
Article first published online: 29 MAY 2014
© 2014 Wiley Periodicals, Inc.
Volume 31, Issue 4, pages 517–518, July/August 2014
How to Cite
Kiely, C., Devaney, D., Fischer, J., Lenane, P. and Irvine, A. D. (2014), Ichthyosis Prematurity Syndrome: A Case Report and Review of Known Mutations. Pediatric Dermatology, 31: 517–518. doi: 10.1111/pde.12320
- Issue published online: 14 JUL 2014
- Article first published online: 29 MAY 2014
Ichthyosis prematurity syndrome (IPS; Mendelian Inheritance in Man 608649) is classified as a syndromic autosomal recessive ichthyosis. Here we describe two siblings with IPS and report a recurrent homozygous mutation (c.1430T>A) that is predicted to lead to a p.Val477Asp substitution in fatty acid transport protein 4. This mutation has arisen for the second time in an entirely distinct population from the Scandinavian population where it was first described.