2012, Number 5
<< Back Next >>
Med Cutan Iber Lat Am 2012; 40 (5)
Dyskeratosis congenita and neuroendocrine tumor
Rodrigo NB, Pont SV, Armengot CM, Molés PP, Gimeno CE, Millán PF
Language: Spanish
References: 13
Page: 158-161
PDF size: 125.83 Kb.
ABSTRACT
Dyskeratosis congenita (DC) is a genodermatosis with multisystem, life-threatening complications such as malignancies. We present the case of a
37-year-old male diagnosed of DC in his infancy that developed a neuroendocrine gastric tumor and died. We also review the clinical features of
the disease and emphasize the importance of performing a close surveillance of these patients due to the significant risk of malignancies.
REFERENCES
Hernández Fernández RA. Telómeros y telomerasas. Rev Cubana Invest Biomed 1999; 18: 121-9.
Escutia B, Esparcia A, Marí JI, Sánchez JM, Sánchez Carazo JL, Aliaga Boniche A. Cutaneous alterations, lacrimal duct atresia and pancytopenia in a young man. Rev Clin Esp 2001; 201: 545-7.
Nelson ND, Bertuch AA. Dyskeratosis congenita as a disorder of telomere maintenance. Mutat Res.: Fundam Mol Mech Mutagen doi: 10.1016/j.mrfmmm.2011.06. 008.
Baran I, Nalcaci R, Kocak M. Dyskeratosis congenital: clinical report and review of the literature. Int J Dental Hygi 8, 2010; 68-74.
Dokal I. Dyskeratosis congenita in al its forms. Br J Haematol 2000; 110: 768-79
Karalis A, Tischkowitz M, Millington GWM. Dermatological manifestations of inherited cancer syndromes in children. Br J Dermatol 2011; 164: 245-56.
Baykal C, Kavak A, Gülcan P, Büyükbabani N. Dyskeratosis congenita associated with three malignancies. JEADV 2003; 17: 216- 8.
Jyonouchi S, Forbes L, Ruchelli E, Sullivan KE. Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum- a single-center pediatric experience. Pediatr Allergy Immunol 2011; 22: 313-9.
Alter BP, Giri N, Savage SA, Rosenberg PS. Cancer in dyskeratosis congenita. Blood 2009; 113: 6549-57.
Wick MR. Neuroendocrine neoplasia: current concepts. Am J Clin Pathol 2000; 113: 331-5.
Handley TPB, McCaul JA, Ogden GR. Dyskeratosis congenita. Oral Oncology 2006; 42: 331-6.
Mahiques L, Febrer I, Vilata JJ, Fortea JM. A case of dyskeratosis congenita associated with schizophrenia and two malignances. J Eur Acad Dermatol Venereol 2006; 20: 1159-61.
Bruna Esteban M, Montalvá Orón E, López Delgado A, Galindo Jara P, Vázquez Prado A, Fabra Ramis R. Gastric adenocarcinoma in Zinsser-Cole-Engman syndrome. Cir Esp 2006; 80: 176-7.