Abstract
A kindred of amelogenesis imperfecta of the pigmented hypomaturation type confirms the observation that hypomaturation amelogenesis imperfecta occurs both as an autosomal recessively inherited trait and as an X-linked disorder. Histologic sections of enamel show defects in rod structure and voids in enamel rod sheaths which are either empty, filled with an eosinophilic material resembling the thixotropic gel of ameloblasts, or contain a brown pigment. SEM photomicrographs show a fibrous pattern of structureless enamel rods and interprismatic voids. It is suggested that the inability of the ameloblasts to hydrolyze or resorb products of thixotropic gel results in a calcification defect in the enamel rod with accumulation of material at the periphery of Tomes' process, resulting in defects of enamel rod sheath.
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