Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: Report of a new family with additional features and review
Article first published online: 12 JUN 2003
Copyright © 2003 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 124A, Issue 3, pages 323–327, 30 January 2004
How to Cite
Mégarbané, H., Zablit, C., Waked, N., Lefranc, G., Tomb, R. and Mégarbané, A. (2004), Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: Report of a new family with additional features and review. Am. J. Med. Genet., 124A: 323–327. doi: 10.1002/ajmg.a.20352
- Issue published online: 31 DEC 2003
- Article first published online: 12 JUN 2003
- Manuscript Accepted: 22 APR 2003
- Manuscript Received: 27 JAN 2003
- The Genethon Association
- ichthyosis follicularis;
Two brothers with ichthyosis follicularis, noncicatricial universal alopecia, photophobia, hyerkeratotic psoriasis-like lesions, nails dystrophy, inguineal herniae, cryptorchidism, short stature, seizures, and psychomotor developmental delay are described. These features correspond to the ichthyosis follicularis, alopecia, photophobia (IFAP) syndrome. The youngest brother had in addition a bilateral absence of 4th fingers and camptodactyly, features never reported in patients with IFAP syndromes. © 2003 Wiley-Liss, Inc.