Síndrome de Gorlin-Goltz: características sistêmicas e maxilofaciais
DOI:
https://doi.org/10.21270/archi.v10i1.4853Palavras-chave:
Síndrome do Nevo Basocelular, Patologia Bucal, OdontologiaResumo
Gorlin-Goltz Syndrome, also known as Nevoid Basal Cell Carcinoma Syndrome, is a rare genetic disorder characterized by the presence of multiple keratocysts in the jaw and basal cell carcinomas, at young age, of palmar and/or plantar depressions, of calcification of the sickle cerebral and skeletal malformations. This syndrome is caused by a mutation of the PTCH1 (patched homolog 1 from Drosophila) gene, a tumor suppressor gene. In this work, the systemic and maxillofacial characteristics of the Gorlin-Goltz syndrome, as well as some neurological, dermatological, musculoskeletal and endocrine alterations, are reviewed. In addition, a case report was added for the purpose of support this study.
Downloads
Referências
Gorlin RJ, Goltz RW. Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib: a syndrome. N Engl J Med. 1960;262(18):908-12.
Bale AE. The nevoid basal cell carcinoma syndrome: genetics and mechanism of carcinogenesis. Cancer Invest. 1997;15(2):180-86.
Addessi G, Del Vecchio A, Maggiore C, Ripari M. Gorlin’s Syndrome: case report. Minerva Stomatol. 2002;51(4):145-9.
Amezaga AOG, Arregui OG, Nuño SZ, Sagredo AA, Aguirre JM. Gorlin-Goltz syndrome: clinicopathologic aspects. Med Oral Patol Oral Cir Bucal. 2008;13(6):338-43.
Medeiros L, Ferreira JC. Síndrome de Gorlin-Goltz: revisão bibliográfica a propósito de um caso clínico. Rev Port Estomatol Cir Maxilofac. 2006;47(1):25-32.
Manfredi M, Vescovi P, Bonanini M, Porter S. Nevoid basal cell carcinoma syndrome: a review of the literature. Int J Oral Maxillofac Surg. 2004;33(2):117-24.
Rahbari H, Mehregan AH. Basal cell epithelioma (carcinoma) in children and teenagers. Cancer. 1982;49(2):350-53.
Bialer M, Gailani M, McLaughlin J, Petrikovsky B, Bale A. Prenatal diagnosis of Gorlin syndrome. Lancet. 1994;344(8920):477.
Muzio LL. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J Rare Dis. 2008;3(1):32-47.
Farndon PA, Del Mastro RG, Kilpatrick MW, Evans DRG. Location of gene for Gorlin syndrome. Lancet. 1992;339(8793):581-82.
Wicking C, Bale AE. Molecular basis of the nevoid basal cell carcinoma syndrome. Curr Opin Pediatr. 1997;9(6):630-35.
Ratcliffe JF, Shanley S, Ferguson J, Chenevix-Trench G. The diagnostic implication of falcine calcification on plain skull radiographs of patients with basal cell naevus syndrome and the incidence of falcine calcification in their relatives and two control groups. Br J Radiol. 1995;68(808):361-68.
Ruprecht A, Austermann KH, Umstadt H. Cleft lip and palate, seldom seen features of the Gorlin-Goltz syndrome. Dentomaxillofac Radiol. 1987;16(2):99-103.
Barnes L, Eveson JW, Reichart P, Sidransky D. World Health Organization classification of tumours. Pathology and genetics of head and neck tumours. Lyon: IARC Press; 2005.
Veenstra-Knol HE, Scheewe JH, Van Der Vlist GJ, Van Doorn ME, Ausems MG. Early recognition of basal cell naevus syndrome. Eur J Pediatr. 2005;164(3):126-30.
Gu XM, Zhao HS, Sun LS, Li TJ. PTCH mutations in sporadic and Gorlin-syndrome-related odontogenic keratocysts. J Dent Res. 2006;85(9):859-63.
Díaz-Fernández JM, Infante-Cossío P, Belmonte-Caro R, Ruiz-Laza L, García-Perla-García A, Gutiérrez-Pérez JL. Basal cell nevus syndrome. Presentation of six cases and literature review. Med Oral Patol Oral Cir Bucal. 2005;10(1):57-66.
Friedrich RE. Diagnosis and treatment of patients with nevoid basal cell carcinoma syndrome [Gorlin-Goltz syndrome (GGS)]. Anticancer Res. 2007;27(4):1783-87.
Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA. Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet. 1993;30(6):460-64.
Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet. 1997;69(3):299-308.
Shanley S, Ratcliffe J, Hockey A, Haan E, Oley C, Ravine D, et al. Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet. 1994;50(3):282-90.
Mustaciuolo VW, Brahney CP, Aria AA. Recurrent keratocysts in basal cell nevus syndrome: review of the literature and report of a case. J Oral Maxillofac Surg. 1989;47(8):870-73.
Schultz SM, Twickler DM, Wheeler DE, Hogan TD. Ameloblastoma associated with basal cell nevus (Gorlin) syndrome: CT findings. J Comput Assist Tomogr. 1987;11(5):901-4.
Hasegawa K, Amagasa T, Shioda S, Kayano T. Basal cell nevus syndrome with squamous cell carcinoma of the maxilla: report of a case. J Oral Maxillofac Surg. 1989;47(6):629-33.
Blanas N, Freund B, Schwartz M, Furst IM. Systematic review of the treatment and prognosis of the odontogenic keratocyst. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2000;90(5):553-58.
Myoung H, Hong SP, Hong SD, Lee JI, Lim CY, Choung PH, et al. Odontogenic keratocyst: review of 256 cases for recurrence and clinicopathologic parameters. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontics. 2001;91(3):328-33.
Leonardi R, Caltabiano M, Lo Muzio L, Gorlin RJ, Bucci P, Pannone G, et al. Bilateral hyperplasia of the mandibular coronoid processes in patients with nevoid basal cell carcinoma syndrome: an undescribed sign. Am J Med Genet. 2002;110(4):400-3.
Takanashi JI, Fujii K, Takano H, Sugita K, Kohno Y. Empty sella syndrome in nevoid basal cell carcinoma syndrome. Brain Dev. 2000; 22(4):272-74.
Amlashi SF, Riffaud L, Brassier G, Morandi X. Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. Cancer. 2003;98(3):618-24.
Ramaglia L, Morgese F, Pighetti M, Saviano R. Odontogenic keratocyst and uterus bicornis in nevoid basal cell carcinoma syndrome: case report and literature review. Oral Med Oral Pathol Oral Radiol Endod. 2006;102(2):217-19.
Zhao YF, Wei JX, Wang SP. Treatment of odontogenic keratocysts: a follow-up of 255 Chinese patients. J Oral Maxillofac Surg. 2002;94(2):151-56.
