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2016, Número 2

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Med Cutan Iber Lat Am 2016; 44 (2)


Síndrome EEC (ectrodactilia, displasia ectodérmica, labio/paladar hendido)

Bravo EA, Cáceres RHW, Ballona CR, Torres IR, Paz CE

Idioma: Español
Referencias bibliográficas: 11
Paginas: 130-132
Archivo PDF: 293.48 Kb.


RESUMEN

El síndrome EEC (ectrodactilia, displasia ectodérmica y labio/paladar hendido) es una genodermatosis causada por la mutación del Gen P63. Se describe el caso clínico de un paciente de tres años con signos clínicos e histopatológicos del síndrome.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Qumsiyeh MB. EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2-q21.3. Clin Genet. 1992; 42 (2): 101.

  2. Van Straten C, Butow KW. Gene p63: In ectrodactyly-ectodermal dysplasia clefting, ankyloblepharon-ectodermal dysplasia, Rapp-Hodgkin syndrome. Ann Maxillofac Surg. 2013; 3 (1): 58-61.

  3. Joseph R, Nath SG. Association of generalized aggressive periodontitis and ectrodactyly-ectodermal dysplasia-cleft syndrome. Indian J Hum Genet. 2012; 18 (2): 259-262.

  4. Meza ELE, Isaza C, Pachajoa H. Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, report of a case with variable expressivity. Arch Argent Pediatr. 2012; 110 (5): e95-98.

  5. Marwaha M, Nanda KD. Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome). Contemp Clin Dent. 2012; 3 (2): 205-208.

  6. Trope BM, Salomão JN, Costa VD, Verde RB, Barros DS. Do you know this syndrome? Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome. An Bras Dermatol. 2010; 85 (4): 573-575.

  7. Chiu YE, Drolet BA, Duffy KJ, Holland KE. A case of ankyloblepharon, ectodermal dysplasia, and cleft lip/palate syndrome with ectrodactyly: are the p63 syndromes distinct after all? Pediatr Dermatol. 2011; 28 (1): 15-19.

  8. Sankhyan N, Kaushal RK, Sarin S. Ectodermal dysplasia, ectrodactyly, cleft lip/palate syndrome without ectrodactyly. Dermatol Online J. 2006; 12 (4): 5.

  9. Glorio R, Haas R, Jaimovich L. Ectrodactyly, ectodermal dysplasia and clefting (EEC) syndrome. J Eur Acad Dermatol Venereol. 2003; 17 (3): 356-358.

  10. Bigatà X, Bielsa I, Artigas M, Azón A, Ribera M, Ferrándiz C. The ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): report of five cases. Pediatr Dermatol. 2003; 20 (2): 113-118.

  11. Tadini G, Santagada F, Brena M, Pezzani L, Nannini P. Ectodermal dysplasias: the p63 tail. G Ital Dermatol Venereol. 2013; 148 (1): 53-58.




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