Focal dermal hypoplasia: oral and dental findings

Abstract

Focal Dermal Hypoplasia/Goltz Gorlin syndrome is a rare syndrome characterized by widespread dysplasia affecting tissues of mesodermal and ectodermal origin with cutaneous, osseous, ocular, oral and dental defects. Enamel hypoplasia is the most commonly reported dental manifestation and has recently been described as a possible manifestation of Lyonisation. This article reviews the reported dental findings and reports a new case with typical findings of focal dermal hypoplasia, which has been under review on our department for 10 years. It discusses the differential diagnosis as well as newer concepts of aetiology and pathogenesis in relation to dental anomalies. Enamel hypoplasia may make plaque control difficult, resulting in generalized gingivitis. Hand anomalies may limit dexterity and exacerbate this. From the dental standpoint we emphasize the implementation of timely preventive and/or therapeutic strategies. Since there are periods of exacerbation during the course of this syndrome, regular surveillance from an early age with the frequency of visits increasing during and after adolescence is indicated. The role of the dentist in improving aesthetics and function can have tremendous psychological impact to enhance self-esteem of such patients.