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The Gorlin-Goltz syndrome, also known as Nevoid Basal Cell Carcinoma syndrome, is an uncommon autosomal dominant disorder caused by mutations found on chromosome 9.
This syndrome is characterized by multiple basal cell carcinomas, odontogenic keratocysts and various skeletal abnormalities. This case report presents a 63-year-old man diagnosed with Gorlin-Goltz syndrome by clinical, radiographic and histological findings. The basal cell carcinomas were treated with surgical excision for the biggest ones, and cryotherapy for some of the small ones that are located on the face with a good result.
Through this paper we aim to highlight the importance of an early diagnosis of this syndrome, leading to an early preventive treatment of basal cell carcinomas, a regular and prolonged monitoring of patients and their descendants, with a right genetic advice.
Ortega García de Amezaga A, García Arregui O, Zepeda Nuño S, Acha Sagredo A,Aguirre Urizar JM. Gorlin-Goltz syndrome: Clinicopathologic aspects. Med OralPatol Oral Cir Bucal. 2008; 13(6):E338-43.
Agrawal A, Murari A, Vutukuri S, Singh A. Gorlin-Goltz syndrome: Case report of a rare hereditary disorder. Case Rep Dent. 2012;475439.
Pandeshwar P, Jayanthi K, Mahesh D. Gorlin-Goltz syndrome. Case Rep Dent. 2012;247239.
Straith FE. Hereditary epidermoid cyst of the jaws. Am J Orthod Oral Surg 1939;25:673-7.
Gorlin RJ, Goltz RW. Multiple nevoid basal-cell epithelioma, jaw cysts andbifid rib. A syndrome. N Engl J Med. 1960;262: 908-12.
Lo Muzio L. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet JRare Dis. 2008;3:32.
Matsuzawa N, Nagao T, Shimozato K, Niikawa N, Yoshiura KI. Patched homologue 1mutations in four Japanese families with basal cell nevus syndrome. J Clin Pathol. 2006;59(10):1084-6.
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.
Cosgun B, Reinders MGHC, van Geel M, Steijlen PM, van Hout AFW, Leter EM, van der Smagt JJ, van Hagen JM, Berger LPV, Kets CM, Wagner A, Aalfs CM, Hes FJ, van der Kolk LE, Gille JJP, Mosterd K. Lack of genotype-phenotype correlation in basal cell nevus syndrome: A Dutch multicenter retrospective cohort study. J Am Acad Dermatol; 2019.
Kalogeropoulou C, Zampakis P, Kazantzi S, Kraniotis P, Mastronikolis NS. Gorlin-Goltz syndrome: incidental finding on routine ct scan following car accident. Cases J. 2009;2:9087.
Kiran NK, Tilak Raj TN, Mukunda KS, Rajashekar Reddy V. Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Contemp Clin Dent. 2012; 3(4):514-8.
Caccialanza M, Percivalle S, Piccinno R. Possibility of treating basal cell carcinomas of nevoid basal cell carcinoma syndrome with superficial x-ray therapy. Dermatology. 2004;208(1):60-3.
Kolm I, Puig S, Iranzo P, Malvehy J. Dermoscopy in Gorlin-Goltz syndrome. Dermatol Surg. 2006;32(6):847-51.
Ferreres JR, Macaya A, Jucglà A, Muniesa C, Prats C, Peyrí J. Hundreds of basal cell carcinomas in a Gorlin-Goltz syndrome patient cured with imiquimod 5% cream. J Eur Acad Dermatol Venereol. 2006;20(7): 877-8.
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.
Soekarman D, Fryns JP, Casaer P, Van Den Berghe H. Increased head circumference and facial cleft as presenting signs of the nevoid basal-cell carcinoma syndrome. Genet Couns. 1991; 2(3):157-62.