Autosomal recessive rough hypoplastic amelogenesis imperfecta. A case report with clinical, light microscopic, radiographic, and electron microscopic observations.

A case is presented of a 12-year-old Japanese girl with nearly complete lack of enamel in the deciduous and the permanent dentitions, coupled with a gross abnormality in the pattern of eruption. There was no family history of a similar condition. Deciduous molars were extracted, and hyperplastic gingival tissue was resected. On the basis of clinical, radiographic, and microscopic findings, a diagnosis of autosomal recessive rough hypoplastic amelogenesis imperfecta was made. The configuration of the abnormal enamel was examined with scanning and transmission electron microscopy as well as with light microscopy. Prismatic structure was virtually absent, and the scant enamel showed globular protrusions superficially. Two different surface structures were identified as covering parts of the enamel. At the ultrastructural level, calcified bodies located in the gingival tissue appeared to be composed, in part, of a dense enamel-like substance and, in part, of a tissue with features of afibrillar cementum.