Síndrome de Gorlin Goltz
Keywords:
Síndrome de nevus basocelular, síndrome de Gorlin Goltz, genodermatosis, PTCHAbstract
Elsíndrome de nevus basocelular (SNBC) es una genodermatosis autosómica dominante con penetrancia elevada y expresión fenotípica variable. Se caracteriza por múltiples anomalías del desarrollo y postnatales, secundarias a mutaciones del gen supresor tumoral PTCH. Se reporta el caso de un adolescente con múltiples manifestaciones cutáneas y esqueléticas.
Author Biographies
Julia Ines Mesa Villegas, Universidad de Caldas
Residente III año Dermatología, Universidad de Caldas, Manizales.
Ana María Hoyos Zuluaga, Universidad de Caldas
Dermatóloga, Universidad de Caldas, Manizales.
References
1. High A. Zedanb W. Basal cell nevus syndrome. Curr Opin Oncol. 2005; 17: 160 - 66.
https://doi.org/10.1097/01.cco.0000154108.99236.ed
2. Pastorino L, Cusano R, Baldo C, Forzano F, Nasti S, Di Rocco M, Carta M, Bricarelli FD, Faravelliand F, Bianchi G. Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis. Child Care Health Dev. 2005; 31: 351 - 54.
https://doi.org/10.1111/j.1365-2214.2005.00514.x
3. Bitar GJ, Herman CK, Dahman MI, Hoard MA. Basal cell nevus syndrome: guidelines for early detection. Am Fam Physician. 2002; 65: 2501-4.
4. Chiritescu E, Maloney ME. Acrochordons as a presenting sign of nevoid basal cell carcinoma syndrome. J Am Acad Dermatol. 2001; 44: 789 - 94.
https://doi.org/10.1067/mjd.2001.112399
5. Tanioka M, Takahashi K, Kawabata T, Kosugi S, Murakami K, Miyachi Y et al. Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome. Arch Dermatol Res. 2005; 296: 303-8.
https://doi.org/10.1007/s00403-004-0520-1
https://doi.org/10.1097/01.cco.0000154108.99236.ed
2. Pastorino L, Cusano R, Baldo C, Forzano F, Nasti S, Di Rocco M, Carta M, Bricarelli FD, Faravelliand F, Bianchi G. Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis. Child Care Health Dev. 2005; 31: 351 - 54.
https://doi.org/10.1111/j.1365-2214.2005.00514.x
3. Bitar GJ, Herman CK, Dahman MI, Hoard MA. Basal cell nevus syndrome: guidelines for early detection. Am Fam Physician. 2002; 65: 2501-4.
4. Chiritescu E, Maloney ME. Acrochordons as a presenting sign of nevoid basal cell carcinoma syndrome. J Am Acad Dermatol. 2001; 44: 789 - 94.
https://doi.org/10.1067/mjd.2001.112399
5. Tanioka M, Takahashi K, Kawabata T, Kosugi S, Murakami K, Miyachi Y et al. Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome. Arch Dermatol Res. 2005; 296: 303-8.
https://doi.org/10.1007/s00403-004-0520-1
How to Cite
1.
Mesa Villegas JI, Hoyos Zuluaga AM. Síndrome de Gorlin Goltz. rev. asoc. colomb. dermatol. cir. dematol. [Internet]. 2006 Dec. 1 [cited 2026 Mar. 15];14(4):408-10. Available from: https://revistaasocoldermaorgco.biteca.online/index.php/asocolderma/article/view/505
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Published
2006-12-01
How to Cite
1.
Mesa Villegas JI, Hoyos Zuluaga AM. Síndrome de Gorlin Goltz. rev. asoc. colomb. dermatol. cir. dematol. [Internet]. 2006 Dec. 1 [cited 2026 Mar. 15];14(4):408-10. Available from: https://revistaasocoldermaorgco.biteca.online/index.php/asocolderma/article/view/505
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