An enigma of Gorlin–Goltz syndrome: Two cases reported in mother and daughter

Abstract

Gorlin–Goltz syndrome (GGS) also known as the nevoid basal cell carcinoma syndrome or the nevus–Bifid rib syndrome is an inherited autosomal dominant syndrome. It is caused by genetic alteration produced by a mutation in the “patched” tumor suppressor gene. This rare syndrome is characterized by basal cell carcinoma of skin, multiple odontogenic keratocyst and bifid ribs along with other features such as hypertelorism, sex organ abnormalities, palmar and/or plantar pits and calcification of falx cerebri. Early detection and treatment are essential for patients suffering from this syndrome. Only a few cases of this syndrome with familial background have been reported from India. In this study, we present a rare case of GGS in a mother and her daughter. The purpose of this study is to discuss the role of a dentist in early detection and the need for a multidisciplinary approach for the treatment of this syndrome.

Gorlin-Goltz Syndrome – A Concatenation of Six Case Reports

“…These recurrences vary from 30% after enucleation, 14.5%–38% after enucleation and cryotherapy, 18% after enucleation with peripheral ostectomy and 8% after enucleation coupled with Carnoy’s solution. [ 9 ]…”

Frameshift mutation in exon 17 of PTCH1 gene in Nevoid basal cell carcinoma syndrome: A case report

“…The estimated prevalence varies from 1 in 57,000 to 1 in 256,000, with a male-to-female ratio of 1:1.1. [ 4 ] It is characterized predominantly by the presence of multiple odontogenic keratocysts (OKCs), basal cell carcinomas, palmar/plantar keratosis, falx cerebri calcifications and skeletal anomalies such as fused, bifid, and splayed ribs. Diagnosis can be made by having two major criteria or one major and two minor criteria put forwarded by Evans et al ,[ 5 ] later modified by Kimonis et al [ 6 ]…”

Radiological evaluation of odontogenic keratocysts in patients with nevoid basal cell carcinoma syndrome: A review

“…In some cases, carcinomas will occur following the occurrence of OKs. According to the literature, the frequency of NBCCS has been reported to be 1 in 50,000 to 150,000 in general population ( Khodaverdi et al, 2018 , Kumar et al, 2018 , Santander et al, 2018 , Al-Jarboua et al, 2019 , Bartos et al, 2019 , Boos Lima et al, 2019 , Moramarco et al, 2019 , Nilius et al, 2019 , Sahu et al, 2019 , Cesinaro et al, 2020 , Lata and Kaur, 2020 , Silva et al, 2020 , Gao et al, 2021 , Rafiq et al, 2021 , Singh and Mishra, 2021 , de Lima et al, 2022 , Katayama et al, 2022 , Pazdera et al, 2022 , Pitak-Arnnop et al, 2022 , Rao and Taksande, 2022 , Reaz et al, 2022 , Spadari et al, 2022 ).…”