The Journal
*Dr. Seema Alice Mathew
**Dr. Ravi Sankar Nutalapati
Gorlin-Goltz Syndrome : Case Report and Review of a
Rare Disorder
Gorlin-Goltz syndrome is an autosomal dominant inherited disorder and is most uncommon, which is
characterized by multiple Odontogenic Keratocysts, basal cell carcinomas, intracranial ectopic
calcifications of the falx-cerebri, skeletal, dental, ophthalmic, and neurological abnormalities, and
facial dysmorphism. The syndrome shows an autosomal dominant inheritance pattern with a gene
mutation located on 9q22.3. It involves multi-systems comprising the triad of basal cell nevi, jaw
keratocysts, and skeletal anomalies. Along with this triad it is also associated with neurological,
ophthalmic, endocrine and genital manifestations. Diagnosis of the syndrome is primarily based on
major and minor criteria. We have reported here a case of a 12-year-old boy presenting with one
major and three minor features of Gorlin-Goltz syndrome. We presented the investigations and
treatment protocol we followed. In concluding prompt and early diagnosis is necessary for better
prognosis and prevents recurrence.
Introduction
Gorlin-Goltz syndrome is otherwise known as
nevoid basal cell carcinoma (BCC) Syndrome is
a rare autosomal dominant disorder with high
penetrance capacity and with extreme variable
expressivity. In 1894, Jarisch and White made
the first descriptions of patients with this
syndrome, focussing the presence of multiple
basocellular car