Gorlin-Goltz syndrome

Abstract

Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder, which is characterized by multiple odontogenic Keratocysts and basal cell carcinomas, skeletal, dental, ophthalmic, and neurological abnormalities, intracranial ectopic calcifications of the falx cerebri, and facial dysmorphism. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31) and loss or mutations of human patched gene (PTCH1 gene). Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by deoxyribo nucleic acid analysis. We report a case of a 9-year-old girl presenting with three major and one minor feature of Gorlin-Goltz syndrome. Radiologic findings of the syndrome are easily identifiable on Orthopantomogram, chest X-ray, and Computed tomography scans. These investigations prompt an early verification of the disease, which is very important to prevent recurrence and better survival rates from the coexistent diseases.

Non-Syndromic Multiple Odontogenic Keratocysts: A Case Report and Comparison with Syndromic Multiple Odontogenic Keratocysts

“…Evans et al [13] first established major and minor criteria for the diagnosis of the syndrome and later were modified by Kimonis et al [14]. The presence of two major and one minor or one major and three minor criteria are necessary to establish diagnosis [13][14][15].…”

Gorlin Goltz syndrome: A case report

“…It is characterized by multiple odontogenic Keratocysts (OKC), multiple BCCs, skeletal, dental, ophthalmic, and neurological abnormalities, intracranial ectopic calcifications of the falx cerebri and facial dysmorphism. 1 GGS shows a predisposition to neoplasms and other developmental abnormalities. The estimated prevalence varies from 1/57,000 to 1/256,000 among various studies, with a male-to-female ratio of 1: 1.…”

“…Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by deoxyribo nucleic acid (DNA) analysis. 1 The presence of two major and one minor criteria or one major and three minor criteria are necessary to establish a diagnosis. Early diagnosis and treatment of Gorlin Goltz syndrome, as well as family screening and genetic counseling are essential as it may be associated in 10% of the patient with aggressive basal cell carcinomas and malignant neoplasias.…”

Multicystic Lesion in Jaws: A Rare Case Report on Gorlin-Goltz Syndrome

“…Diagnosis isbased upon established major and minor clinical and radiological criteria and ideally confirmed by deoxyribonucleic acid (DNA) analysis.The frequency of the syndrome varies according to the country where the study has been carried out. On an average, the incidence of Gorlin-Goltz syndrome has been reported to be 1 in 50,000 to 150,000 in general population [3].…”