RESUMO
Sonic Hedgehog gene (SHH) plays a vital role in embryogenesis through its secreted protein sonic hedgehog protein (Shh). During embryogenesis, Shh acts as a morphogen controlling proximal and distant signaling in the specific development of tissue lineages, patterning, regulation of cell proliferation and suppression of tissue apoptosis. Shh also exerts its role in odontogenesis by determining the site of tooth bud formation, in tooth morphogenesis and root formation. The difference in the specific development of a region by Shh can be explained by its [a] 'Spatial gradient [b] the 'form' [c] Concentration gradient and [d] Temporal gradient. Shh signaling pathway has an extracellular and an intracellular component. A disruption of Shh pathway contributes to tumorigenesis of several cell types including those arising from odontogenic structures. This article reviews Shh from its formation in embryonic stages, its role in development and odontogenesis, to its reactivation in tumorigenesis and in specific to odontogenic pathologies.
RESUMO
Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is a rare autosomal dominant disorder characterized by variable manifestations, including multiple basal cell carcinomas, odontogenic keratocysts of the jaw, skeletal anomalies including scoliosis and bifid ribs, palmar and plantar pits, calcification of the falx cerebri, and biparietal frontal bossing. We report a case of a 9-year-old boy with the clinical features of basal cell nevus syndrome, in which a PTCH gene mutation was confirmed by DNA testing.