Track

Clinical Studies

Abstract

While odontogenic keratocysts have a strong association with basal cell nevus syndrome (BCNS) (Gorlin syndrome), the relationship between cutaneous keratocysts and BCNS has yet to be determined. The limited literature on this subject is conflicting, as both rare syndromic and nonsyndromic cases have been reported. In this study, we sought to determine the relationship between cutaneous keratocysts and BCNS. All previous cases of cutaneous keratocyst diagnosed at our institution (10 in total) were retrieved from the pathology archives and were then independently reviewed to ensure the accuracy of diagnosis. Subsequently, a retrospective chart review of each case was conducted to determine the presence of any findings indicative of BCNS, including any of the six major criteria for BCNS diagnosis (basal cell carcinoma diagnosis prior to the age of 20 years or a history of excessive basal cell carcinomas out of proportion to sun exposure, odontogenic keratocyst prior to the age of 20 years, palmar or plantar pitting, lamellar calcification of the falx cerebri, medulloblastoma, first degree relative with BCNS), any of the seven minor criteria for BCNS diagnosis (rib anomalies, macrocephaly, cleft lip/palate, cardiac/ovarian fibroma, lymphomesenteric cysts, ocular abnormalities, other specific skeletal malformations and radiologic changes), as well as any history of genetic testing for BCNS. After retrospective chart review, none of the patients were found to have evidence of BCNS. This study, which is the largest clinical study of cutaneous keratocysts to date, did not find an association between cutaneous keratocysts and BCNS.