Palavras-chave
Síndrome do Nevo Basocelular
Queratocisto Odontogênico
Vismodegib
Sonidegib
Como Citar
Resumo
O objetivo deste artigo é descrever e discutir, com base na literatura atual, um caso de um paciente jovem com síndrome de Gorlin-Goltz (SGG), destacando a abordagem terapêutica e o desafio representado pela alta taxa de recidiva dos queratocistos odontogênicos (QO) na SGG. Apresentamos um paciente de 19 anos com SGG e múltiplos QOs tratados por meio de descompressão, enucleação e tratamento da cavidade com solução de Carnoy modificada (SCM). Três anos depois, o paciente retornou devido à recidiva de QOs, e uma nova abordagem foi adotada: enucleação e tratamento da cavidade com SCM para o QO de menor tamanho, enquanto a descompressão foi realizada para o QO de maior tamanho. Atualmente, a conduta clínica frente aos QOs não varia entre indivíduos com e sem SGG, apesar das diferenças clínicas e moleculares. Assim, destacamos a necessidade de estabelecer um tratamento específico para os QOs em pacientes com SGG, considerando os fármacos inibidores da via Sonic Hedgehog (SHH) como uma terapia adjuvante.
Referências
Murgia G, Valtellini L, Denaro N, Nazzaro G, Bortoluzzi P, Benzecry V, et al. Gorlin syndrome-associated basal cell carcinomas treated with vismodegib or sonidegib: A retrospective study. Cancers (Basel) 2024;16:2166.
Spadari F, Pulicari F, Pellegrini M, Scribante A, Garagiola U. Multidisciplinary approach to Gorlin-Goltz syndrome: from diagnosis to surgical treatment of jawbones. Maxillofac Plast Reconstr Surg 2022;44:25.
Fernández LT, Ocampo-Garza SS, Elizondo-Riojas G, Ocampo-Candiani J. Basal cell nevus syndrome: an update on clinical findings. Int J Dermatol 2022;61:1047–55. (6)
Kesireddy M, Mendiola VL, Jana B, Patel S. Long-term response to vismodegib in a patient with Gorlin-Goltz syndrome: A case report and review of pathological mechanisms involved. Cureus 2019;11:e5383.
Akbari M, Chen H, Guo G, Legan Z, Ghali G. Basal cell nevus syndrome (Gorlin syndrome): genetic insights, diagnostic challenges, and unmet milestones. Pathophysiology 2018;25:77–82.
Booms P, Harth M, Sader R, Ghanaati S. Vismodegib hedgehog-signaling inhibition and treatment of basal cell carcinomas as well as keratocystic odontogenic tumors in Gorlin syndrome. Ann Maxillofac Surg 2015;5:14–9.
Ambele MA, Robinson L, van Heerden MB, Pepper MS, van Heerden WFP. Comparative molecular genetics of odontogenic keratocysts in sporadic and syndromic patients. Mod Pathol 2023;36:100002.
Schuch LF, de Arruda JAA, Mosconi C, Kirschnick LB, Pinho RFC, Viveiros SK, Abreu LG, do Amaral-Silva GK, da Silva LP, Martins-Chaves RR, Vasconcelos ACU, Gomes APN, Rivero ERC, Martins MD, Rados PV, de Almeida OP, de Andrade BAB, Romañach MJ, Agostini M, de Mendonça EF, Pontes HAR, de Souza LB, Fonseca FP, de Aguiar MCF, de Sousa SCOM, Mesquita RA. A Brazilian multicentre study of 2,497 isolated cases of odontogenic keratocysts. Oral Dis. 2020 Apr;26(3):711-715. doi: 10.1111/odi.13278. Epub 2020 Feb 14. PMID: 31917876.
Titinchi, F., & Nortje, C. J. (2012). Keratocystic odontogenic tumor: a recurrence analysis of clinical and radiographic parameters. Oral surgery, oral medicine, oral pathology and oral radiology, 114(1), 136-142.
Al-Moraissi EA, Kaur A, Gomez RS, Ellis E 3rd. Effectiveness of different treatments for odontogenic keratocyst: a network meta-analysis. Int J Oral Maxillofac Surg 2023;52:32–43.
Bree AF, Shah MR, BCNS Colloquium Group. Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS). Am J Med Genet A 2011;155A:2091–7.
Tang JY, Ally MS, Chanana AM, Mackay-Wiggan JM, Aszterbaum M, Lindgren JA, et al. Inhibition of the hedgehog pathway in patients with basal-cell nevus syndrome: final results from the multicentre, randomised, double-blind, placebo-controlled, phase 2 trial. Lancet Oncol 2016;17:1720–31.
Winters R, Garip M, Meeus J, Coropciuc R, Politis C. Safety and efficacy of adjunctive therapy in the treatment of odontogenic keratocyst: a systematic review. Br J Oral Maxillofac Surg. 2023 Jun;61(5):331-336. doi: 10.1016/j.bjoms.2023.04.006. Epub 2023 Apr 25. PMID: 37248124.
Mehta D, Raval N, Patadiya H, Tarsariya V. Gorlin-goltz syndrome. Ann Med Health Sci Res. 2014;4(2):279-282. doi:10.4103/2141-9248.129064
Singh AK, Khanal N, Chaulagain R, Bhujel N, Singh RP. How effective is 5-Fluorouracil as an adjuvant in the management of odontogenic keratocyst? A systematic review and meta-analysis. Br J Oral Maxillofac Surg. 2022;60(6):746-754. doi:10.1016/j.bjoms.2022.02.001
Palmeiro AG, Carvalho M, Gonçalves Castro C, Pimentel B, Catorze G. Vismodegib in Gorlin-Goltz syndrome: A systematic review. Australas J Dermatol 2024;65.
Villani, Alessia, et al. Sonidegib: safety and efficacy in treatment of advanced basal cell carcinoma. Dermatology and therapy, 2020, vol. 10, p. 401-412.
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Copyright (c) 2025 Arturo Javier Henriquez Avendaño, Sebastián Alberto Galleguillos Conejeros, Jose Fernandez, Mauricio Lobos Esparza, Marcelo Mardones Muñoz, Luis Alberto Córdova Jara