Situs inversus in a patient with nevoid basal cell carcinoma syndrome: a histogenetic relationship?

Abstract

Nevoid basal cell carcinoma syndrome (NBCCS) is an uncommon autosomal dominant inherited disorder with high penetrance and variable expressivity. It affects multiple organ systems, including the stomatological, skeletal, skin, eye, reproductive, and central nervous systems. It is caused by mutations in the patched tumor suppressor gene, PTCHI, located in the 9q22.3-q31 chromosome. To our knowledge, this is the first report of a patient with unusual radiological features, i. e. dextrocardia and situs inversus totalis, in conjunction with common features including multiple keratocystic odontogenic tumors, bifid ribs, palmar and plantar pits, bridging of the sella turcica and calcification of the falx cerebri. We examined whether these genetic conditions were associated, as both involve ciliary dysfunction.