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2017, Number 4

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Rev Med Inst Mex Seguro Soc 2017; 55 (4)

Overlap syndrome. LEOPARD and neurofi bromatosis. A case report

Revollo-Guerra IM, Vázquez-Román R
Full text How to cite this article

Language: Spanish
References: 16
Page: 540-543
PDF size: 108.37 Kb.


Key words:

LEOPARD syndrome, Lentigo, Pigmentation disorders, Congenital abnormalities.

ABSTRACT

We expose a clinical case of a 43-year-old patient who was attended at the Dermatology service in a general hospital of the Instituto Mexicano del Seguro Social, with a disseminated pattern of lentigines, psychomotor retardation and electrocardiographic abnormalities. Afterwards, we made an analysis of the literature.


REFERENCES

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  3. Sarkozy A, Conti E, Digilio MC, Marino B, Morini E, Pacileo G, et al. Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD Syndrome. J Med Genet. 2004 May;41(5):e68.

  4. Rodríguez-Cruz R, López LM, Valle-Molina L. Síndrome de LEOPARD asociado a estenosis pulmonar. Revista Hospital Juárez México. 2011;78(3):11.

  5. Galván-Moreira O, Salmentón G. Síndrome de lentiginosis múltiple. Revista Pediátrica Uruguaya. 2004; 75(4)316-9.

  6. Won-Woo C, Jong-Yeop Y, Kyoung-Chan P, Kyu-Han K. LEOPARD Syndrome with a new association of congenital corneal tumor, choristoma. Pediatric Dermatology. 2003;20(2):158-60.

  7. Garg S, Green J, Leadbitter K, Emsley R, Lehtonen A, Evans DG, et al. Neurofi bromatosis Type 1 and Autism Spectrum Disorder. Pediatrics. 2013 Dec; 132(6):e1642-8.

  8. Darrigo LG, Geller M, Bonalumi-Filho A. Prevalence of plexiform neurofi broma in children and adolescents with type I neurofi bromatosis. J Pediatr. 2007; 83(6):571-3.

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  11. Rodríguez-Bujaldón A. LEOPARD Syndrome: What are café noir spots? Pediatric Dermatology. 2008;25 (4):444-8.

  12. Lehmann LH, Schaeufele T, Buss SJ, Balanova M, Hartschuh W, Ehlermann P, et al. A patient with LEOPARD syndrome and PTPN11 mutation. Circulation. 2009 Mar 10;119(9):1328-9.

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  14. Laux D, Kratz C, Sauerbrey A. Common Acute Lymphoblastic Leukemia in a girl with genetically confi rmed LEOPARD Syndrome. J Pediatr Hematol Oncol. 2008 Aug;30(8):602-4.

  15. Ucar C, Calypkan U, Martini S, Heinritz W. Acute myelomonocytic leukemia in boy with LEOPARD Syndrome (PTPN11 Gene mutation positive). Journal of Pediatric Hematology/Oncology. March 2006; 28(3):123-5.

  16. Keren B, Hadchouel A, Saba S, Sznajer Y, Bonneau D, Leheup B, et al. PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. J Med Genet. 2004 Nov;41(11):e117.




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Rev Med Inst Mex Seguro Soc. 2017;55