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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

Microanatomy of the dental enamel in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED): report of three cases.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal recessive disease composed of failure of various endocrine glands, chronic mucocutaneous candidiasis, and an ectodermal dystrophy complex including hypoplasia of the dental enamel. To characterize the enamel defect further, we studied enamel microanatomy by light microscopy and scanning electron microscopy in clinically affected permanent teeth from three APECED patients. In all three cases, the enamel was partially hypoplastic and morphologically aberrant. Hypoplasia was evident as a horizontal band or as rows of pits. The incremental pattern in the abnormal enamel was obscure, and the prisms were either barely detectable or accentuated and disoriented. In scanning electron microscopy, imprints of the Tomes processes were seen on the enamel surface, but the perikymata were poorly contoured. The distribution pattern of the defective enamel corresponded to the sequence of tooth development and was suggestive of a transient insult. In the enamel affected with a hypoplastic pitted from of amelogenesis imperfecta, studied for comparison, only local hypoplastic defects were seen. Together with normal parathyroid function in one patient and normal calcification of dentin in one of the two patients with hypoparathyroidism, morphology of the enamel in APECED appears to preclude calcium deficiency as the primary cause of the enamel dystrophy.[1]

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