Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome

Abstract

Gorlin-Goltz syndrome or basal cell nevus syndrome is a comparatively rare syndrome characterized by basal cell nevi, odontogenic keratocysts, and skeletal anomalies. Diagnosis is based on the major and minor clinical and radiographic criteria. Dentist plays a major role in the diagnosis of this disease due to the oral and maxillofacial manifestations of the syndrome. In some cases, jaw cysts are diagnosed by routine radiographs advised by the dentists. Odontogenic keratocysts in such syndromic patients will be multiple and extensive and in some cases results in cortical expansion and facial disfigurement. Thorough clinical examination and investigations prompt an early confirmation of the syndrome, which is very essential to avoid morbidity associated with the syndrome. Here, we report a case of multiple odontogenic cysts in a 16-year-old patient which later was diagnosed as a case of Gorlin Goltz syndrome.

Mandibular odontogenic cysts associated with basal cell carcinoma in a patient with Gorlin-Goltz syndrome – Case Report

“…Gorlin syndrome, also known as Gorlin-Goltz syndrome (GGS), nevoid basal-cell carcinoma syndrome (NBCCS), jaw cysts syndrome or fifth phakomatosis, is a rare genetic disease of autosomal dominant inheritance. Mutation of human Patched gene PTCG1 is responsible for the occurrence of the disease [1,2,3]. The gene is located on chromosome 9 (q22-q31) and its most likely position is between D9S12 and D9S53 DNA markers.…”

“…The gene is located on chromosome 9 (q22-q31) and its most likely position is between D9S12 and D9S53 DNA markers. Although its occurrence among family members is an important diagnosing criterion, it has been found that between 20-40% of cases result from a de novo mutation of the PTCH1 gene [1,4,5]. According to some researchers, new mutations occur in 35-50% of patients [4,6,7].…”

“…The protein encoded by the PTCH1 gene acts as a transmembrane receptor and contributes to the regulation of development and proliferation of stem cells in the skin, skeletal and central nervous system [8,9]. Homozygotes to PTCH1 mutations have predispositions for such neoplasms as basal-cell carcinoma, medulloblastoma, cystic adenoidal epithelioma, esophageal and urinary bladder cancer [1,2,3,6,7,10,11].…”

“…Lesions in the craniofacial region include frontal and temporoparietal bossing, strongly marked superciliary arches, wide base of the nose, hypertelorism, low occipital position, cleft lip or palate, opthalmic anomalies ranging from congenital blindness to corneal opacity, strabismus and retinitis [1,2,3,6,7,10,11]. The pathognomonic symptom of GGS is multilamellar calcification of the falx cerebri, revealed by computed tomography [2,13,14].…”

“…It is well circumscribed and has a well-defined osteosclerotic rim which may become less visible while the lesion grows and transforms into a multilocular form [6,7,15]. Gorlin-Goltz syndrome is diagnosed if two major criteria or one major and two minor ones are found [1,2,3,6,7,10,11,14].…”