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Case Reports in Medicine
Volume 2015, Article ID 450937, 4 pages
http://dx.doi.org/10.1155/2015/450937
Case Report

A Case of IFAP Syndrome with Severe Atopic Dermatitis

1Dermatology Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, Portugal
2Medical Genetics Unit, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, Portugal

Received 8 September 2014; Revised 19 November 2014; Accepted 23 November 2014

Academic Editor: Jeffrey M. Weinberg

Copyright © 2015 Catarina Araújo et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. J. M. H. MacLeod, “Three cases of “ichthyosis follicularis” associated with baldness,” British Journal of Dermatology, vol. 21, pp. 165–189, 1909. View at Google Scholar
  2. H. Mégarbané and A. Mégarbané, “Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome,” Orphanet Journal of Rare Diseases, vol. 6, no. 1, article 29, 2011. View at Publisher · View at Google Scholar · View at Scopus
  3. C. Cursiefen, U. Schlötzer-Schrcliardt, L. M. Holbach, R. A. Pfäjfcr, and G. O. H. Naumànn, “Ocular findings in ichthyosis follicularis, atrichia, and photophobia syndrome,” Archives of Ophthalmology, vol. 117, no. 5, pp. 681–684, 1999. View at Publisher · View at Google Scholar · View at Scopus
  4. J. Harper, A. Oranje, and N. S. Prose, “IFAP syndrome,” in Text Book of Pediatric Dermatology, vol. 2, pp. 1348–1349, Wiley-Blackwell, New York, NY, USA, 2006. View at Google Scholar
  5. H. Hamm, P. Meinecke, and H. Traupe, “Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome,” European Journal of Pediatrics, vol. 150, no. 9, pp. 627–629, 1991. View at Publisher · View at Google Scholar · View at Scopus
  6. K. Keyvani, W. Paulus, H. Traupe et al., “Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man,” The American Journal of Medical Genetics, vol. 78, no. 4, pp. 371–377, 1998. View at Publisher · View at Google Scholar
  7. L. R. Eramo, N. B. Esterly, E. J. Zieserl, E. L. Stock, and J. Herrmann, “Ichthyosis follicularis with alopecia and photophobia,” Archives of Dermatology, vol. 121, no. 9, pp. 1167–1174, 1985. View at Publisher · View at Google Scholar · View at Scopus
  8. E. I. Traboulsi, N. Waked, H. Mégarbané, and A. Mégarbané, “Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome,” Ophthalmic Genetics, vol. 25, no. 2, pp. 153–156, 2004. View at Publisher · View at Google Scholar · View at Scopus
  9. H. Bibas-Bonet, R. Fauze, M. C. Boente, A. M. Coronel, and R. Asial, “IFAP syndrome ‘plus’ seizures, mental retardation, and callosal hypoplasia,” Pediatric Neurology, vol. 24, no. 3, pp. 228–231, 2001. View at Publisher · View at Google Scholar · View at Scopus
  10. F. Oeffner, G. Fischer, R. Happle et al., “IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response,” American Journal of Human Genetics, vol. 84, no. 4, pp. 459–467, 2009. View at Publisher · View at Google Scholar · View at Scopus
  11. H. Mégarbané, C. Zablit, N. Waked, G. Lefranc, R. Tomb, and A. Mégarbané, “Ichthyosis follicularis, alopecia, and photophobia (IFAP) ayndrome: report of a new family with additional features and review,” The American Journal of Medical Genetics A, vol. 124, no. 3, pp. 323–327, 2004. View at Google Scholar · View at Scopus
  12. M. Pinheiro and N. Freire-Maia, “Ectodermal dysplasias: a clinical classification and a causal review,” The American Journal of Medical Genetics, vol. 53, no. 2, pp. 153–162, 1994. View at Publisher · View at Google Scholar · View at Scopus
  13. Y. H. Hwang, J. Uck Choi, S. Hwan Oh, and S. Won Kim, “Atopic dermatitis with ichthyosis follicularis, atrichia, and photophobia syndrome: a case report,” Allergology International, vol. 63, no. 2, pp. 279–281, 2014. View at Publisher · View at Google Scholar
  14. B. A. Skinner, M. C. Greist, and A. L. Norins, “The keratitis, ichthyosis, and deafness (KID) syndrome,” Archives of Dermatology, vol. 117, no. 5, pp. 285–289, 1981. View at Google Scholar · View at Scopus
  15. S. Corujeira, S. Águeda, G. Monteiro et al., “Expanding the phenotype of IFAP/BRESECK syndrome: a new case with severe hypogammaglobulinemia,” European Journal of Medical Genetics, vol. 56, no. 11, pp. 603–605, 2013. View at Publisher · View at Google Scholar · View at Scopus
  16. J. Nakayama, N. Iwasaki, K. Shin et al., “A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation,” Journal of Human Genetics, vol. 56, no. 3, pp. 250–252, 2011. View at Publisher · View at Google Scholar · View at Scopus
  17. S. Khandpur, R. Bhat, and M. Ramam, “Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin,” Journal of the European Academy of Dermatology and Venereology, vol. 19, no. 6, pp. 759–762, 2005. View at Publisher · View at Google Scholar · View at Scopus