DOI: http://dx.doi.org/10.18203/2320-6012.ijrms20202917

Gorlin Goltz syndrome: a rare case report

Nitisha A. Jain, Vasantkumar J. Rathod, Mily S. Gandhi, Anshul P. Ghai

Abstract


Gorlin-Goltz syndrome is uncommon multisystemic disease with an autosomal dominant trait, with complete penetrance and variable expressivity, though sporadic cases have been described. We report a case of 18 years old male patient having features of Gorlin Goltz syndrome. Gorlin-Goltz syndrome is characterized by multiple basal cell nevi or carcinomas, odontogenic keratocysts, palmar and/or plantar pits, calcification of the falx cerebri, and is associated with internal malignancies. It is important to know the major and minor criteria for the diagnosis and early preventive treatment of this syndrome.


Keywords


Calcification of the falx cerebri, Gorlin-Goltz syndrome, Odontogenic keratocysts

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References


Ortega García de Amezaga A, García Arregui O, Zepeda Nuño S, Acha Sagredo A, Aguirre Urizar JM. Gorlin-Goltz syndrome: Clinicopathologic aspects. Med Oral Patol Oral Cir Bucal. 2008;13:E338-43.

Mamatha GP, Reddy S, Rao BB, Mujib A. Gorlin syndrome. A case report. Indian J Dent Res 2001;12:248-52.

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):460-4.

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 Mar 31;69(3):299-308.

Pastorino L, Cusano R, Nasti S, Faravelli F, Forzano F, Baldo C, et al. Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients. Hum Mutat. 2005;25:322-3.

Boutet N, Bignon YJ, Drouin-Garraud V, Sarda P, Longy M, Lacombe D, et al. Spectrum of PTCH1 mutations in French patients with Gorlin syndrome. J Invest Dermatol. 2003;121:478-81.

Evans DG, Sims DG, Donnai D. Family implications of neonatal Gorlin's syndrome. Arch Dis Child. 1991;66:1162-3.

Pandeshwar P, Jayanthi K, Mahesh D. Gorlin-goltz syndrome. Case Rep Dent. 2012.

Agrawal A, Murari A, Vutukuri S, Singh A. Gorlin-goltz syndrome: Case report of a rare hereditary disorder. Case Rep Dent. 2012.

Nilesh K, Tewary S, Zope S, Patel J, Vande A. Dental, dermatological and radiographic findings in a case of Gorlin-Goltz Syndrome: report and review. Pan Afr Med J. 2017;27:96.

Woolgar JA, Pippin JW, Browne RM. The odontogenic keratocyst and its occurrence in the nevoid basal cell carcinoma syndrome. Oral Surg Oral Med Oral Pathol. 1987;64:727-30.

Dowling PA, Fleming P, Saunders ID, Gorlin RJ, Napier SS. Odontogenic keratocysts in a 5-year-old: Initial manifestations of nevoid basal cell carcinoma syndrome. Pediatr Dent. 2000;22:53-5.

Jawa DS, Sircar K, Somani R, Grover N, Jaidka S, Singh S. Gorlin-Goltz syndrome. J Oral Maxillofac Pathol. 2009;13:89-92.