DOI: 10.36347/sjds.2020.v07i09.001

Pages: 109-113

Gorlin- Goltz syndrome (GGS) is a rare, autosomal dominant syndrome caused by mutations of the patched gene (PTCH) on chromosome 9q (22.3-q31). It has a high level of penetrance and diverse expression, commonly associated with basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and falx cerebri calcifications. Two major findings or one major finding and two minor findings confirm the diagnosis. More than 100 minor criteria are mentioned in the literature for diagnosing GGS [1]. Despite diverse manifestations this syndrome is under reported, three cases of familial inheritance are reported in India till date. Early diagnosis and genetic counseling are essential for managing the syndrome. Total of 65 variants of PTCH mutations have been documented in literature [2], thus it would be not unanticipated for affected patients and their family members to have a spectrum of different genetic and clinical anomalies. There are only 64 cases reported till date since 1977 from India out of which this is the fourth case report showing the hereditary involvement. All the three previously reported cases had only two affected members but this is the first case series reporting three affected of GGS with familial inheritance (mother and both her children). Their diverse manifestation in each are reported here which alerts the clinician and gives an insight for prompt diagnosis and its early management.