medigraphic.com
ISSN 0210-5187 (Electronic)

2009, Number 2

<< Back Next >>

Med Cutan Iber Lat Am 2009; 37 (2)

Familial multiple cancer syndromes with cutaneous findings

Bennàsar A, Ferrando J

Language: Spanish
References: 23
Page: 71-78
PDF size: 244.59 Kb.


ABSTRACT

Familial multiple cancer syndromes are genetically determined disorders characterized by benign or malignant tumors in at least two tissues. The aim of this review is to describe those familial multiple cancer syndromes with important mucocutaneous involvement that must be well known by dermatologists bacause those patients should undergo a thorough investigation to exclude associated diseases, especially internal malignancies. Moreover, in the last few years many specific genes mutations have been associated to a particular clinical syndrome and thus have been newly classified attending to genetic patterns.


REFERENCES

  1. Bayliss SJ, Dogramaci AC. Genodermatoses. En: Bolognia JL, Jorizzo JL, Rapini RP. Dermatology. 2ª edición. Elsevier, 2008. London.

  2. Tsao H. Update on familial cancer syndromes and the skin. J Am Acad Dermatol 2000;42:939-69.

  3. Bisgaard ML, Fenger K, Bülow S, Niebuhr E, Mohr J. Familial adenomatous polyposis: Frequency, penetrance, and mutation rate. Hum Mutat 1994;3:121-5.

  4. Galiatsatos P, Foulkes WD. Familial adenomatous polyposis. Am J Gastroenterol 2006;101:385-98.

  5. Kinzler KW, Nilbert MC, Su LK, Vogelstein B, Bryan TM, Levy DB, Smith Kj, et al. Identification of FAP locus genes from cromosome 5q21. Science 1991;253:661-5.

  6. Naylor EW, Leberthal E. Gardner’s syndrome. Recent developments in research and management. Dig Dis Sci 1980;25:945-59.

  7. Shields JA, Shields CL, Shah PG, Pastore DJ, Imperiale SM Jr. Lack of association among typical congenital hypertophy of the retinal epithelium, adenomatous polyposis and Gardner syndrome. Ophtalmology 1992;99: 1709-13.

  8. A. Fontábal, P. Amaro. Manifestaciones cutáneas de las enfeemedades gastrointestinales. Segunda parte. Gastr Latinoam 2005;16:205-17.

  9. Bilkay U, Erdem O, Ozek C, Helvaci E, Kilic K, Ertan Y, Gurler T. Benign osteoma with Gardner syndrome: review of the literature and report of a case. J Craniofacial Surg 2004;15:506-9.

  10. Hughes-Fulford M, Boman B. Growth regulation of Gardner’s syndrome colorectal cancer cells by NSAIDs. Adv Exp Med Biol 1997;407:433-41.

  11. Hamilton SR, Liu B, Parsons RE, Papadopoulos N, Jen J, Powell SM, Krush AJ et al. The molecular basis of Turcot’s syndrome. N Engl J Med 1995;332:839-47.

  12. Eccles DM, Van der Luijt R, Breukel C, Bullman H, Bunyan D, Fisher A, Barber J et al. Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. Am J Hum Genet 1996;59:1193-201.

  13. Pilarski R, Eng C. Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumor syndrome. J Med Genet 2004;41:323-26.

  14. Di Cristofano A, Pesce B, Cordon-Cardo C, Pandolfi PP. Pten is essenctial for embryonic development and tumor supression. Nat Genet 1998;19:348-55.

  15. Starink TM. Cowden’s disease: analysis of fourteen new cases. J Am Acad Dermatol 1984;11:1127-41.

  16. Starink TM, Van Der Veen JPW, Arwet F, de Waal LP, de Lange GG, Gille JJ, Eriksson AW. The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet 1986;29:222-33.

  17. Gorlin RJ, Cohen MM Jr, Condon LM, Burke BA. Bannayan-Riley-Ruvalcaba syndrome. Am J Med Genet 1992;44:307-14.

  18. Zhou X, Hampel H, Thiele H, Gorlin RJ, Hennekam RC, Parisi M, Winter RM, Eng C. Association of germline mutation in the PTEN tumor supressor gene and a subset of Proteus and Proteus-like syndromes. Lancet 2001;358:210-1.

  19. Vantomme N, Van Calenbergh F, Goffin J, Sciot R, Damaerel P, Plets C. Lhermitte-Duclos disease is a clinical manifestation of Cowden’s syndrome. Surg Neurol 2001;56:201-5.

  20. Mangold E, Rahner N Friedrichs N, Buettner R, Pgenstecher C, Aretz S, Friedl W et al. MSH6 mutation in Muir-Torre syndrome: could this be a rare finding? Br J Dermatol 2007;156:158-62.

  21. Curry ML, Eng W, Lund K, Paek D, Cockerell CJ. Muir-Torre syndrome: the role of dermatopathologists in diagnosis. Am J Dermatopathol 2004;26:217-21.

  22. Wells SA, Donis-Keller H. Current perspectives on the diagnosis and management of patients with multiple endocrine neoplasia type 2 syndromes. Endocrinol Metab Clin North Am 1994;23:215-28.

  23. Spigelman AD, Murday V, Phillips RK. Cancer and the Peutz-Jeghers syndrome. Gut 1989;30:1588-90.




2020     |     www.medigraphic.com