Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Neurological Medicine
Volume 2016, Article ID 3292654, 4 pages
http://dx.doi.org/10.1155/2016/3292654
Case Report

Tip of an Iceberg: Skull Fracture as an Adult Presentation of Encephalocraniocutaneous Lipomatosis

1Neuroradiology and Neurointerventional Service, Department of Radiology, Beaumont Hospital, Dublin 9, Ireland
2Lysholm Department of Neuroradiology, The National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
3Department of Radiology, The University of Melbourne, Parkville, VIC 3050, Australia
4School of Medicine, Faculty of Health, Deakin University, Pigdons Road, Waurn Ponds, VIC 3216, Australia

Received 14 August 2016; Accepted 5 October 2016

Academic Editor: Norman S. Litofsky

Copyright © 2016 Sinead Culleton 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. C. Haberland and M. Perou, “Encephalocraniocutaneous lipomatosis: a new example of ectomesodermal dysgenesis,” Archives of Neurology, vol. 22, no. 2, pp. 144–155, 1970. View at Publisher · View at Google Scholar · View at Scopus
  2. U. Moog, “Encephalocraniocutaneous lipomatosis,” Journal of Medical Genetics, vol. 46, no. 11, pp. 721–729, 2009. View at Publisher · View at Google Scholar · View at Scopus
  3. R. Happle, “Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin,” Journal of the American Academy of Dermatology, vol. 16, no. 4, pp. 899–906, 1987. View at Publisher · View at Google Scholar · View at Scopus
  4. J. T. Bennett, T. Y. Tan, D. Alcantara et al., “Mosaic activating mutations in FGFR1 cause encephalocraniocutaneous lipomatosis,” The American Journal of Human Genetics, vol. 98, no. 3, pp. 579–587, 2016. View at Publisher · View at Google Scholar
  5. U. Moog, M. C. Jones, D. H. Viskochil, A. Verloes, M. I. Van Allen, and W. B. Dobyns, “Brain anomalies in encephalocraniocutaneous lipomatosis,” American Journal of Medical Genetics Part A, vol. 143, no. 24, pp. 2963–2972, 2007. View at Publisher · View at Google Scholar · View at Scopus
  6. R. Happle and S. Hörster, “Nevus psiloliparus: report of two nonsyndromic cases,” European Journal of Dermatology, vol. 14, no. 5, pp. 314–316, 2004. View at Google Scholar · View at Scopus
  7. J. Banta, K. Beasley, T. Kobayashi, and L. Rohena, “Encephalocraniocutaneous lipomatosis (Haberland syndrome): a mild case with bilateral cutaneous and ocular involvement,” JAAD Case Reports, vol. 2, no. 2, pp. 150–152, 2016. View at Publisher · View at Google Scholar
  8. I. A. Pardo and M. E. Nicolas, “A Filipino male with encephalocraniocutaneous lipomatosis (Haberland's syndrome),” Journal of Dermatological Case Reports, vol. 7, no. 2, pp. 46–48, 2013. View at Publisher · View at Google Scholar
  9. M. M. Cohen Jr., “Proteus syndrome: an update,” American Journal of Medical Genetics—Seminars in Medical Genetics, vol. 137, no. 1, pp. 38–52, 2005. View at Publisher · View at Google Scholar · View at Scopus
  10. S. Cambiaghi, P. S. Levet, G. Guala, D. Baldini, and R. Gianotti, “Delleman syndrome: report of a case with a mild phenotype,” European Journal of Dermatology, vol. 10, no. 8, pp. 623–626, 2000. View at Google Scholar · View at Scopus
  11. A. G. W. Hunter, “Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: blind men and an elephant or separate syndromes?” American Journal of Medical Genetics, Part A, vol. 140, no. 7, pp. 709–726, 2006. View at Publisher · View at Google Scholar · View at Scopus
  12. F. Habib, M. F. Elsaid, K. Y. Salem, K. O. Ibrahim, and K. Mohamed, “Oculo-ectodermal syndrome: a case report and further delineation of the syndrome,” Qatar Medical Journal, vol. 2014, no. 2, pp. 114–122, 2014. View at Publisher · View at Google Scholar · View at Scopus
  13. H. H. Ardinger, K. A. Horii, and M. L. Begleiter, “Expanding the phenotype of oculoectodermal syndrome: possible relationship to encephalocraniocutaneous lipomatosis,” American Journal of Medical Genetics, Part A, vol. 143, no. 24, pp. 2959–2962, 2007. View at Publisher · View at Google Scholar · View at Scopus
  14. U. Moog, M. C. Jones, L. M. Bird, and W. B. Dobyns, “Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype,” Journal of Medical Genetics, vol. 42, no. 12, pp. 913–921, 2005. View at Publisher · View at Google Scholar · View at Scopus