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Radiology Research and Practice
Volume 2014, Article ID 947451, 7 pages
http://dx.doi.org/10.1155/2014/947451
Review Article

Differential Diagnoses of Overgrowth Syndromes: The Most Important Clinical and Radiological Disease Manifestations

1Department of Radiology, State University of Rio de Janeiro, 20551-030 Rio de Janeiro, RJ, Brazil
2Postgraduate Programme in Medical Sciences, State University of Rio de Janeiro, 20550-170 Rio de Janeiro, RJ, Brazil

Received 12 March 2014; Revised 19 May 2014; Accepted 27 May 2014; Published 9 June 2014

Academic Editor: Andreas H. Mahnken

Copyright © 2014 Letícia da Silva Lacerda 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. R. Visser, S. G. Kant, J. M. Wit, and M. H. Breung, “Overgrowth syndromes: from classical to new,” Pediatric Endocrinology Reviews, vol. 6, no. 3, pp. 375–394, 2009. View at Google Scholar · View at Scopus
  2. O. M. Neylon, G. A. Werther, and M. A. Sabin, “Overgrowth syndromes,” Current Opinion in Pediatrics, vol. 24, no. 4, pp. 505–511, 2012. View at Publisher · View at Google Scholar · View at Scopus
  3. I. Bentov and H. Werner, “IGF, IGF receptor and overgrowth syndromes,” Pediatric Endocrinology Reviews, vol. 1, no. 4, pp. 352–360, 2004. View at Google Scholar · View at Scopus
  4. K. T. Barker and R. S. Houlston, “Overgrowth syndromes: is dysfunctional PI3-kinase signalling a unifying mechanism?” European Journal of Human Genetics, vol. 11, no. 9, pp. 665–670, 2003. View at Publisher · View at Google Scholar · View at Scopus
  5. A. Tufan, R. Mercan, A. Kaya et al., “An unusual case of Madelung's disease with multiple atypical fractures,” Case Reports in Orthopedics, vol. 2012, Article ID 180506, 3 pages, 2012. View at Publisher · View at Google Scholar
  6. E. Mevio, M. Sbrocca, M. Mullace, S. Viglione, and N. Mevio, “Multiple symmetric lipomatosis: a review of 3 cases,” Case Reports in Otolaryngology, vol. 2012, Article ID 910526, 4 pages, 2012. View at Publisher · View at Google Scholar
  7. M. M. Cohen Jr., “Overgrowth syndromes: an update,” Advances in Pediatrics, vol. 46, pp. 441–491, 1999. View at Google Scholar · View at Scopus
  8. R. Gracia Bouthelier and P. Lapunzina, “Follow-up and risk of tumors in overgrowth syndromes,” Journal of Pediatric Endocrinology and Metabolism, vol. 18, no. 1, pp. 1227–1235, 2005. View at Google Scholar · View at Scopus
  9. G. M. Mirzaa, J. Rivière, and W. B. Dobyns, “Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP,” American Journal of Medical Genetics C: Seminars in Medical Genetics, vol. 163, no. 2, pp. 122–130, 2013. View at Publisher · View at Google Scholar · View at Scopus
  10. T. L. Yuan and L. C. Cantley, “PI3K pathway alterations in cancer: variations on a theme,” Oncogene, vol. 27, no. 41, pp. 5497–5510, 2008. View at Publisher · View at Google Scholar · View at Scopus
  11. K. C. Kurek, V. L. Luks, U. M. Ayturk et al., “Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome,” American Journal of Human Genetics, vol. 90, no. 6, pp. 1108–1115, 2012. View at Publisher · View at Google Scholar · View at Scopus
  12. B. Baskin, S. Choufani, Y. A. Chen et al., “High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome,” Human Genetics, vol. 133, no. 3, pp. 321–330, 2014. View at Publisher · View at Google Scholar
  13. W. T. Gibson, R. L. Hood, S. H. Zhan et al., “Mutations in EZH2 cause weaver syndrome,” American Journal of Human Genetics, vol. 90, no. 1, pp. 110–118, 2012. View at Publisher · View at Google Scholar · View at Scopus
  14. D. Astuti, M. R. Morris, W. N. Cooper et al., “Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility,” Nature Genetics, vol. 44, no. 3, pp. 277–284, 2012. View at Publisher · View at Google Scholar · View at Scopus
  15. G. Neri and M. Moscarda, “Overgrowth syndromes: a classification,” Endocrine Development, vol. 14, pp. 53–60, 2009. View at Publisher · View at Google Scholar · View at Scopus
  16. D. Melis, R. Genesio, E. Del Giudice et al., “Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ring,” Clinical Dysmorphology, vol. 21, no. 1, pp. 27–32, 2012. View at Publisher · View at Google Scholar · View at Scopus
  17. S. C. Elalaoui, I. Garin, A. Sefiani, and G. Perez de Nanclares, “Maternal hypomethylation of KvDMR in a monozygotic male twin pair discordant for Beckwith-Wiedemann syndrome,” Molecular Syndromology, vol. 5, no. 1, pp. 41–46, 2014. View at Google Scholar
  18. S. Senniappan, D. Ismail, C. Shipster, C. Beesley, and K. Hussain, “The heterogeneity of hyperinsulinaemic hypoglycaemia in 19 patients with Beckwith-Wiedemann syndrome due to KvDMR1 hypomethylation,” Journal of Pediatric Endocrinology & Metabolism, 2014. View at Publisher · View at Google Scholar
  19. M. J. Kaduthodil, D. S. Prasad, A. S. Lowe, A. S. Punekar, S. Yeung, and C. L. Kay, “Imaging manifestations in Proteus syndrome: an unusual multisystem developmental disorder,” British Journal of Radiology, vol. 85, no. 1017, pp. e793–e799, 2012. View at Publisher · View at Google Scholar · View at Scopus
  20. H. Hamm, “Cutaneous mosaicism of lethal mutations,” American Journal of Medical Genetics, vol. 85, no. 4, pp. 342–345, 1999. View at Google Scholar
  21. M. J. Lindhurst, J. C. Sapp, J. K. Teer et al., “A mosaic activating mutation in AKT1 associated with the proteus syndrome,” New England Journal of Medicine, vol. 365, no. 7, pp. 611–619, 2011. View at Publisher · View at Google Scholar · View at Scopus
  22. C. Alves, A. X. Acosta, and M. P. Toralles, “Proteus syndrome: clinical diagnosis of a series of cases,” Indian Journal of Endocrinology and Metabolism, vol. 17, no. 6, pp. 1053–1611, 2013. View at Publisher · View at Google Scholar
  23. C. A. Jamis-Dow, J. Turner, L. G. Biesecker, and P. L. Choyke, “Radiologic manifestations of Proteus syndrome,” Radiographics, vol. 24, no. 4, pp. 1051–1068, 2004. View at Google Scholar · View at Scopus
  24. L. Biesecker, “The challenges of Proteus syndrome: diagnosis and management,” European Journal of Human Genetics, vol. 14, no. 11, pp. 1151–1157, 2006. View at Publisher · View at Google Scholar · View at Scopus
  25. L. G. Biesecker, R. Happle, J. B. Mulliken et al., “Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation,” American Journal of Medical Genetics, vol. 84, no. 5, pp. 389–395, 1999. View at Google Scholar
  26. C. Y. Li, Y. L. Chang, W. C. Chen, and Y. C. Lee, “Pulmonary manifestations and management of proteus syndrome,” Journal of the Formosan Medical Association, vol. 109, no. 5, pp. 397–400, 2010. View at Publisher · View at Google Scholar · View at Scopus
  27. K. M. Elsayes, C. O. Menias, J. R. Dillman, J. F. Platt, J. M. Willatt, and J. P. Heiken, “Vascular malformation and hemangiomatosis syndromes: spectrum of imaging manifestations,” American Journal of Roentgenology, vol. 190, no. 5, pp. 1291–1299, 2008. View at Publisher · View at Google Scholar · View at Scopus
  28. I. Lorda-Sanchez, L. Prieto, E. Rodriguez-Pinilla, and M. L. Martinez-Frias, “Increased parental age and number of pregnancies in Klippel-Trenaunay-Weber syndrome,” Annals of Human Genetics, vol. 62, no. 3, pp. 235–239, 1998. View at Publisher · View at Google Scholar · View at Scopus
  29. S. H. Cha, M. A. Romeo, and J. A. Neutze, “Visceral manifestations of Klippel-Trénaunay syndrome,” Radiographics, vol. 25, no. 6, pp. 1694–1697, 2005. View at Publisher · View at Google Scholar · View at Scopus
  30. C. A. De Leon, L. R. Braun Filho, M. D. Ferrari, B. L. Guidolin, and B. J. Maffessoni, “Klippel-Trenaunay syndrome: case report,” Anais Brasileiros de Dermatologia, vol. 85, no. 1, pp. 93–96, 2010. View at Publisher · View at Google Scholar · View at Scopus
  31. M. Servelle, “Klippel and Trenaunay's syndrome. 768 operated cases,” Annals of Surgery, vol. 201, no. 3, pp. 365–373, 1985. View at Google Scholar · View at Scopus
  32. L. A. Favorito, “Vesical hemangioma in patient with Klippel-Trenaunay-Weber syndrome,” International Braz J Urol, vol. 29, no. 2, pp. 149–150, 2003. View at Google Scholar · View at Scopus
  33. N. Revencu, L. M. Boon, A. Dompmartin et al., “Germline mutations in RASA1 are not found in patients with Klippel-Trenaunay syndrome or capillary malformation with limb overgrowth,” Molecular Syndromology, vol. 4, no. 4, pp. 173–178, 2013. View at Publisher · View at Google Scholar · View at Scopus
  34. P. Gloviczki and D. J. Driscoll, “Klippel-Trenaunay syndrome: current management,” Phlebology, vol. 22, no. 6, pp. 291–298, 2007. View at Publisher · View at Google Scholar · View at Scopus
  35. R. L. G. Flumignan, D. G. Cacione, S. I. Lopes et al., “Klippel-Trenaunay-Weber syndrome: association of operative treatment with foam sclerotherapy,” Jornal Vascular Brasileiro, vol. 10, no. 1, pp. 77–80, 2011. View at Google Scholar · View at Scopus
  36. A. G. Jacob, D. J. Driscoll, W. J. Shaughnessy, A. W. Stanson, R. P. Clay, and P. Gloviczki, “Klippel-Trénaunay syndrome: spectrum and management,” Mayo Clinic Proceedings, vol. 73, no. 1, pp. 28–36, 1998. View at Google Scholar · View at Scopus
  37. M. M. Al-Salman, “Klippel-Trenaunay Syndrome: clinical features, complications, and management,” Surgery Today, vol. 27, no. 8, pp. 735–740, 1997. View at Publisher · View at Google Scholar · View at Scopus
  38. K. T. Delis, P. Gloviczki, P. W. Wennberg, T. W. Rooke, and D. J. Driscoll, “Hemodynamic impairment, venous segmental disease, and clinical severity scoring in limbs with Klippel-Trenaunay syndrome,” Journal of Vascular Surgery, vol. 45, no. 3, pp. 561–567, 2007. View at Publisher · View at Google Scholar · View at Scopus
  39. M. C. Garzon, J. T. Huang, O. Enjolras, and I. J. Frieden, “Vascular malformations. Part II: associated syndromes,” Journal of the American Academy of Dermatology, vol. 56, no. 4, pp. 541–564, 2007. View at Publisher · View at Google Scholar · View at Scopus
  40. V. Latessa and K. Frasier, “Case study: a minimally invasive approach to the treatment of Klippel-Trenaunay syndrome,” Journal of Vascular Nursing, vol. 25, no. 4, pp. 76–84, 2007. View at Publisher · View at Google Scholar · View at Scopus
  41. G. Enzi, “Multiple symmetric lipomatosis: an updated clinical report,” Medicine, vol. 63, no. 1, pp. 56–64, 1984. View at Google Scholar · View at Scopus
  42. G. Enzi, C. Angelini, P. Negrin, M. Armani, S. Pierobon, and D. Fedele, “Sensory, motor, and autonomic neuropathy in patients with multiple symmetric lipomatosis,” Medicine, vol. 64, no. 6, pp. 388–393, 1985. View at Google Scholar · View at Scopus
  43. Í. I. Shibasaki, H. I. Shibasaki, T. S. Nakamoto, F. S. Baccan, and L. S. Raposo, “Multiple symmetrical lipomatosis (Madelung's disease),” Brazilian Journal of Otorhinolaryngology, vol. 80, no. 1, pp. 90–91, 2014. View at Google Scholar
  44. F. Y. Lin and T. L. Yang, “Madelung disease,” Canadian Medical Association Journal, vol. 185, no. 1, p. E79, 2013. View at Publisher · View at Google Scholar · View at Scopus
  45. C. Plummer, P. J. Spring, R. Marotta et al., “Multiple symmetrical lipomatosis: a mitochondrial disorder of brown fat,” Mitochondrion, vol. 13, no. 4, pp. 269–276, 2013. View at Publisher · View at Google Scholar · View at Scopus
  46. M. V. Vieira, R. U. Grazziotin, M. Abreu et al., “Multiple symmetrical lipomatosis (Madelung's disease): a case report,” Radiologia Brasileira, vol. 34, no. 2, pp. 119–121, 2001. View at Google Scholar
  47. M. S. Landis, R. Etemad-Rezai, K. Shetty, and M. Goldszmidt, “Case 143: Madelung disease,” Radiology, vol. 250, no. 3, pp. 951–954, 2009. View at Publisher · View at Google Scholar · View at Scopus
  48. L. P. Rodrigues and E. L. A. Melo, “Madelung's disease: a case report and literature review,” Radiologia Brasileira, vol. 43, no. 2, pp. 275–276, 2012. View at Google Scholar
  49. B. J. Fortman, B. S. Kuszyk, B. A. Urban, and E. K. Fishman, “Neurofibromatosis type 1: a diagnostic mimicker at CT,” Radiographics, vol. 21, no. 3, pp. 601–612, 2001. View at Google Scholar · View at Scopus
  50. E. N. Washington, T. P. Placket, R. A. Gagliano, J. Kavolius, and D. A. Person, “Diffuse plexiform neurofibroma of the back: report of a case,” Hawaii Medical Journal, vol. 69, no. 8, pp. 191–193, 2010. View at Google Scholar · View at Scopus
  51. V. C. Williams, J. Lucas, M. A. Babcock, D. H. Gutmann, B. Bruce, and B. L. Maria, “Neurofibromatosis type 1 revisited,” Pediatrics, vol. 123, no. 1, pp. 124–133, 2009. View at Publisher · View at Google Scholar · View at Scopus
  52. K. A. Diggs-Andrews, J. A. Brown, S. M. Gianino, J. B. Rubin, D. F. Wozniak, and D. H. Gutmann, “Sex is a major determinant of neuronal dysfunction in neurofibromatosis type 1,” Annals of Neurology, vol. 75, no. 2, pp. 309–316, 2014. View at Publisher · View at Google Scholar
  53. P. R. Biondetti, M. Vigo, D. Fiore, D. De Faveri, R. Ravasini, and L. Benedetti, “CT appearance of generalized von Recklinghausen neurofibromatosis,” Journal of Computer Assisted Tomography, vol. 7, no. 5, pp. 866–869, 1983. View at Google Scholar · View at Scopus
  54. K. P. Boyd, B. R. Korf, and A. Theos, “Neurofibromatosis type 1,” Journal of the American Academy of Dermatology, vol. 61, no. 1, pp. 1–14, 2009. View at Publisher · View at Google Scholar · View at Scopus
  55. A. Ferrari, G. Bisogno, A. Macaluso et al., “Soft-tissue sarcomas in children and adolescents with neurofibromatosis type 1,” Cancer, vol. 109, no. 7, pp. 1406–1412, 2007. View at Publisher · View at Google Scholar · View at Scopus