Amelogenesis imperfecta with gingival calcification: A rare - PDF document

See discussions, stats, and author profiles for this publication at: https://www.researchgate.net/publication/43559560 Amelogenesis imperfecta with gingival calcification: A rare presentation Article · January 2005 Source: OAI CITATIONS READS 4 153 2 authors: Sunitha Carnelio Nirmala Rao Manipal Academy of Higher Education Manipal Academy of Higher Education 40 PUBLICATIONS 317 CITATIONS 40 PUBLICATIONS 599 CITATIONS SEE PROFILE SEE PROFILE Some of the authors of this publication are also working on these related projects: dentistry View project A case report View project All content following this page was uploaded by Sunitha Carnelio on 15 June 2016. The user has requested enhancement of the downloaded file.

Braz J Oral Sci. October-December 2005 - Vol. 4 - Number 15 Amelogenesis imperfecta with gingival calcification: a rare presentation Sunitha Carnelio 1 Abstract Nirmala Rao 1 The purpose of this article is to highlight the rare presence of gingival 1 MDS - Department Of Oral And calcification with Amelogenesis Imperfecta. A case is presented of a Maxillofacial Pathology - Manipal College Of Dental Sciences - Manipal, Karnataka, India. 12-year-old girl with a defect of enamel in deciduous as well as permanent dentition with moderate amount of gingival hyperplasia with no positive family history of a similar condition. On the basis of history, clinical and radiographic features a diagnosis of autosomal recessive hypoplastic amelogenesis imperfecta of rough variant was made. Histopathological examination of hyperplastic gingival tissue revealed the presence of calcified bodies. An attempt is made to determine the nature of these calcified bodies by histochemical Received for publication: October 11, 2005 examination. The relevant literature is reviewed. Accepted: December 12, 2005 Key Words: amelogenesis imperfecta, gingival, enamel, hyperplasia, calcification Correspondence to: Sunitha Carnelio Associate Professor of Oral & Maxillofacial Pathology, 157, KMC Quarters, Madhav Nagar, Manipal – 576 104. Karnataka, INDIA. Phone: +91-820-2572647 Fax: +91-820-2570061 E-mail: rodricksgaby@yahoo.co.in 932

Braz J Oral Sci. 4(15):932-935 Amelogenesis imperfecta with gingival calcification: a rare presentation Introduction the teeth appeared to be developing normally in outline. It Amelogenesis Imperfecta (AI) is a group of hereditary was difficult to differentiate enamel from dentin (Fig. 2). Pulpal developmental defects of tooth enamel. It is mainly an calcifications were evident in the coronal portion of the teeth autosomal dominant disease, but autosomal recessive, X- (Fig. 3). linked and sporadic cases also do occur. The possible The hyperplastic gingival tissue was sent for abnormalities include hypoplasia, hypomaturation and histopathological examination, which showed small, round hypocalcification of the tooth enamel or combination of these. to ovoid basophilic masses with few odontogenic rests in a Both primary and secondary dentitions are affected. A few chronically inflamed connective tissue stroma, with dense reports on autosomal recessive nature of the rough variant proliferating fibroblasts. The epithelium was lined by hypoplastic type of AI are present in the literature 1,2 . The parakeratinized stratified squamous epithelium, acanthotic unique clinical feature of this patient was the presence of a at places (Figs. 4, 5 and 6). Further, various special stains like few deciduous teeth, few partially erupted permanent teeth, Periodic Acid Schiff (PAS), Van Gieson, von Kossa and showing features of AI with pulp stones and hyperplastic Congo Red were performed, and was found to be positive gingiva of moderate intensity. Histopathological examination for PAS, Van Gieson and von Kossa but negative for Congo of the hyperplastic tissue revealed the presence of calcified Red. bodies in the connective tissue. The nature and the probable cause of these calcified bodies has been discussed. Discussion AI may be isolated or associated with syndromes like Clinical Case otodental and Morquito syndrome, amelocerebrohypohi- A 12-year-old girl was seen for the chief complaint of drotic, ameloonychohypohidrotic, trichodentoosseous, discolored teeth. There was no history of any drug intake or dystrophic epidermolysis bullosa, oculodentoosseous systemic disease. No evidence of a similar condition could dysplasia, pseudohypoparathyroidism, tuberous sclerosis be elicited in the family history. The extraoral examination and vitamin D – dependent rickets. None of these conditions was unremarkable. On intraoral examination, the deciduous is associated with extra dental anomalies 3-4 . The autosomal and permanent teeth that were present had a distinct yellow dominant hypocalcified type is the most common form of AI, color with an irregular, but hard surface. The teeth were widely followed by hypomaturation and hypoplastic types 5 . The spaced with a moderate amount of gingival hyperplasia (Fig. enamel is of normal thickness, but opaque or yellowish white 1). The teeth present were deciduous maxillary first and without luster on newly erupted teeth showing second molars, deciduous mandibular canines, first and hypocalcification. It is so soft that is lost soon after eruption, second molars, partially erupted permanent maxillary central resulting in a crown composed only of yellowish dentin. and lateral incisors, mandibular central and lateral incisors The enamel can easily be scraped from the tooth. and permanent molars. The mandibular permanent right The prevalence of this condition is said to be 1:4000. On the molars were missing. The deciduous as well as permanent basis of clinical criteria, AI has been subdivided into molars were attrited. hypoplastic and hypopcalcificated varieties 6 . Witkop 7 coined Radiographic examination revealed enamel hypoplasia of the term ‘hypomaturation’, to describe less severe degrees both affected primary and permanent teeth, together with of enamel hypocalcification. Witkop and Sauk 8 described six delayed or arrested eruption of other permanent teeth. Lower types of hypoplastic AI based on the clinical, histological as right mandibular molar was missing. The crown and root of well as the mode of inheritance. This case represented an Fig. 1: Intraoral appearance of patient with discolored teeth. Fig. 2: Orthopantamogram showing mixed dentition. 933

Braz J Oral Sci. 4(15):932-935 Amelogenesis imperfecta with gingival calcification: a rare presentation Fig. 3: Intraoral periapical radiography showing pulpal calcification Fig. 4: Photomicrograph showing numerous calcified globular (arrow). bodies in the connective tissue 200x (HE).. Fig. 5: Photomicrograph showing degenerated epithelial rests and Fig. 6: Photomicrograph showing calcified globular bodies with concentrically lamellated calcified bodies 400x (HE). odontogenic rests 400x (HE). unusual and rare form of rough hypoplastic type of AI with complete eruption of permanent teeth, though autosomal recessive inheritance, which could be compared radiographically, well-formed roots of permanent teeth were with the reports of Catena and coworkers 9 , Frank and seen. Normally, the connective tissue covering the tooth Bolender 10 , Witkop and Sauk 8 and Chosack and colleagues 11 , crown atrophies when the tooth erupts toward the oral although differing somewhat, represent other examples in epithelium. It can be assumed that the presence of an this category. The parents of this patient, her siblings or epithelial covering of the crown is necessary to bring about relatives had no such similar condition (AI) and thus her this atrophy of the tissue. A lack of epithelial covering may parents could be accepted as heterozygous carriers of a even lead to proliferation of the connective tissue so that recessive gene, which determines AI. Being a sporadic case the moving tooth covered with mucosa, bulges into the oral with a new mutation is another possible alternative. Studies cavity. This loss of protective epithelial covering brings the have also shown that recessive cases are more severe than connective tissue into contact with the enamel and may the dominant ones 2 . produce hyperplastic gingiva 6 . Since this patient did not have Generalized gingival enlargement may be due to a variety of any history of drug intake, or a manifestation of genetic causes, including inflammation, leukemic infiltration and disorder, this may be attributed to dental follicles unable to chemical induction, as seen with drugs like phenytoin, synthesize the factor that initiate eruption, or a lack of cyclosporine or nifedipine. These must be ruled out; however, epithelial covering which brings the connective tissue in the degree of enlargement is typically less and the texture contact with the enamel producing hyperplastic gingiva. soft than that of the gingiva observed in this case 12 . Also The most interesting finding in this case was the presence there was no positive history of any of these. A feature to be of gingival and pulpal calcification. Ectopic calcification has noted in this case was gingival hyperplasia with lack of been reported in patients with disorders of calcium and 934