1,2,3,9N.O. Dávalos, 4,9B. Huerta-Franco, 9S. Armenta, 9J.A. Soto-Ortíz, 9R. Quiñónez-Venegas, 9M.A. Rodríguez-Castellanos, 5,9M. Hernández-Torres, 6,9G. Amezcua, 7,9A. García-Vargas, 1,2V.J. Picos-Cárdenas, 9J.F. Barba-Gómez, 2I.P. Dávalos, 8J. Sánchez-Corona, 2L.E. Figuera, 2D. García-Cruz
1Genética Humana, CUCS, UdeG, Gdl, 2Div. Genética, CIBO, IMSS, Gdl, 3Serv. Genética, CIBO, Gdl, 4Serv. Cirugía, IDJ, Gdl, 5Serv. Dermato-patología, IDJ, Gdl, 6Serv. Odontología, IDJ, Gdl, 7Serv. Dermato-pediatría, IDJ, Gdl, 8Div. Med. Mol. - CIBO, IMSS, Gdl, 9Instituto Dermatológico de Jalisco (IDJ), Guadalajara, Jalisco. Mexico.
The Gorlin Syndrome (GS) is an autosomal dominant trait with complete penetrance and variable expressivity (MIM #109400). The diagnosis of GS is based on clinical characteristics. The present study show the clinical expression in Mexican patients with GS. We reviewed the clinical findings in 16 cases with GS, 10 males and 16 females, ranging in age from 2-77 years, presenting 4 sporadic cases and 12 belonging to 4 unrelated families. All patients were clinical and radiologically evaluated, histopathologic analysis of nevi was done.
The most striking features in the patients included: peculiar facies in 100%(16/16); macrocephaly 93% (15/16); palmar pits 81% (13/16); odontogenic keratocysts of the jaws 68% (11/16), the first tumor occurring in 72% by the age of 14 years (8/11); basal cell carcinoma 62% (10/16) with the first tumor occurring in adult age, only one case presented in adolescence; important radiological signs 62% (10/16); neurologic findings 56% (9/16), ophthalmologic 37% (6/16), and only in 3 cases showed tall stature 18% (3/16). Histopathologic study of the lesions shown basal cell carcinoma concordant with GS.
The clinical findings presented in the cases were compatible with those reported in the literature, intrestingly patients of our group didn't present tall stature as reported, it could be explained by the genetic background. Also it is remarkable that in one of the families only females were affected with miscarriage of male products.
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