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

doi:10.1016/0030-4220(88)90360-X

Oral Surgery, Oral Medicine, Oral Pathology

Volume 65, Issue 4, April 1988, Pages 449-458

Oral Surgery, Oral M...

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Abstract

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.

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Cited by (43)

Amelogenesis imperfecta, rough hypoplastic type, dental follicular hamartomas and gingival hyperplasia: report of a case from Central America and review of the literature
2008, Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontology
Citation Excerpt :
Some part in these psammomatoid bodies is lost after decalcification. This has been described before and indicates the presence of material with high mineral content, most likely having the properties of enamel while the other component resembles afibrillar cementum.10 One can hypothesize that a small nidus of abnormal enamel is secreted by odontogenic rests with subsequent deposition of most likely afibrillar cementum by surrounding ectomesenchymal cells.
We report on a black male patient from Central America with amelogenesis imperfecta, rough hypoplastic type, dental follicular hamartomas, and gingival hyperplasia. Although previous reports have described this association of amelogenesis imperfecta with hyperplastic follicular hamartomas or central odontogenic fibroma-like lesions in blacks from South Africa, we have noticed non-black patients in the literature with similar findings.
Progressive preeruptive crown resorption in autosomal recessive generalized hypoplastic Amelogenesis imperfecta
2007, Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontology
Citation Excerpt :
However, the prevalence of the nonenamel dental anomalies varies with the different AI types.2,19 As demonstrated by clinical studies and case reports, patients with autosomal recessive generalized hypoplastic AI seemed to be more severely affected by the associated dental anomalies than patients with other AI types.2-4,20 The present case demonstrates the co-occurrence of abnormalities in tooth eruption, severe crown resorption, and gingival hyperplasia in a patient with autosomal recessive generalized hypoplastic AI.
An interdisciplinary approach for restoring function and esthetics in a patient with amelogenesis imperfecta and malocclusion: A clinical report
2004, Journal of Prosthetic Dentistry
Phenotypic diversity and revision of the nomenclature for autosomal recessive amelogenesis imperfecta
2004, Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics
The purpose of this study was to characterize the phenotype in 9 families with autosomal recessive amelogenesis imperfecta (ARAI), and to propose a classification system allowing inclusion and delineation of diverse ARAI phenotypes.
Nine families with ARAI were evaluated clinically and radiographically. Exfoliated and extracted teeth were examined via light and scanning electron microscopy, with the enamel in one case evaluated by amino acid analysis.
The 9 families demonstrated diverse ARAI phenotypes including localized hypoplastic, generalized thin hypoplastic, hypocalcified and hypomaturation AI types.
Some ARAI phenotypes observed in this study and reported in the literature cannot be classified using currently accepted ARAI nomenclature. Therefore, we propose a revised nomenclature permitting both classification of all ARAI clinical forms and inclusion of anticipated molecular-based nomenclature, such as now exists for some X-linked and autosomal dominant AI subtypes.
Restoring function and esthetics in a patient with amelogenesis imperfecta: A clinical report
2003, Journal of Prosthetic Dentistry
This clinical report describes the prosthodontic treatment for an 18-year-old man diagnosed with amelogenesis imperfecta. The aim of treatment was to reduce dental sensitivity and to restore esthetics and masticatory function. Metal-ceramic fixed partial dentures were placed on posterior teeth to modify the occlusion, and porcelain laminate veneers were placed to improve the esthetics of the maxillary anterior teeth. Clinical examination 12 months after treatment revealed no evidence of disorders associated with the restored teeth or their supporting structures.
Syndromes with gingival fibromatosis: A systematic review
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Short communication & case reportAutosomal recessive rough hypoplastic amelogenesis imperfecta: A case report with clinical, light microscopic, radiographic, and electron microscopic observations

Abstract

J Am Dent Assoc

Oral Surg Oral Med Oral Pathol

Oral Surg Oral Med Oral Pathol

Arch Oral Biol

Oral Surg Oral Med Oral Pathol

Oral Surg Oral Med Oral Pathol

Heritable defects of enamel

Hypoplastic amelogenesis imperfecta (enamel agenesis)

J Japan Soc Dent Radiol

Hereditary amelogenesis imperfecta. I. Epidemiology and clinical classification in a Swedish child population

Swed Dent J

Short communication & case report
Autosomal recessive rough hypoplastic amelogenesis imperfecta: A case report with clinical, light microscopic, radiographic, and electron microscopic observations