Amelogenesis imperfecta, hypoplastic type - Dr Sanjana Ravindra

case report on amelogenesis imperfecta

1. GOODMORNING Dr Sanjana Ravindra Post graduate Student Oral Medicine and Radiology

2. Amelogenesis Imperfecta, Hypoplastic Type Associated with Some Dental Abnormalities: A Case Report Canger EM, C elenk P, Y enísey M, O dyakmaz SZ. Braz Dent J (2010) 21(2): 170-174 . JOURNAL CLUB: 3

3. Introduction DEVELOPMENTAL DISTURBANCES an abnormality where the pathology starts in the embryonic stage of human life , before the formation of the dentition Orban’s Oral Histology and Embryology, 12 th edition

4. Introduction DEVELOPMENTAL TOOTH ANOMALIES SIZE Microdontia Macrodontia NUMBER Anodontia Supernumerary teeth Pre-deciduous dentition STRUCTURE AMELOGENESIS IMPERFECTA Dentinogenesis imperfecta Dentin dysplasia Regional odontodysplasia Dentin hypocalcification SHAPE Gemination Twinning Fusion Concrescence Talon cusp Dilaceration Dens in dente Dens evaginatus Enamel pearl Globodontia Mulberry molar Moon’s molar Hutchinson incisor Carabelli cusp Shovel shaped incisor

5. encompasses a complicated group of conditions that demonstrate developmental alterations in the structure of the enamel in the absence of a systemic disorder. AMELOGENESIS IMPERFECTA AMELOGENESIS ? IMPERFECTA Hereditary enamel dysplasia Hereditary brown enamel Hereditary brown opalescent teeth Shafer’s textbook of Oral Pathology. 6 th ed . Elsevier; 2009 www.merriam-webster.com Introduction

6. Case report Canger EM, Celenk P, Yenísey M, Odyakmaz SZ. Amelogenesis Imperfecta , Hypoplastic Type, Associated with Some Dental Abnormalities: A Case Report: Braz Dent J (2010) 21(2): 170-174 .

7. Case report FAMILY HISTORY None had similar problem

8. Case report

9. Case report

10. Panoramic view Intraoral periapical radiographs

11. 2 WEEKS - NORMAL GINGIVA VERTICAL DIMENSION NORMAL ESTHETIC OR FUNCTIONAL PROBLEMS Case report

12. DISCUSSION

13. Introduction Tooth enamel consists mainly of inorganic material (96%) and oraganic substance and water(4%) Physical properties and physiological function of enamel – directly related to composition, orientation, disposition and morphology of mineral components within tissue During organogenesis, enamel transitions from soft to pliable tissue to its final form- is devoid of protein Final composition is reflection of unique molecular and cellular activities that take place during its genesis Deviation from this pattern lead – AMELOGENESIS IMPERFECTA

14. SYNONYMS Hereditary enamel dysplasia Hereditary brown enamel Hereditary brown opalescent teeth

15. “AI encompasses a complicated group of conditions that demonstrate developmental alterations in structure of the enamel in the absence of a systemic disorder” “AI represents a group of conditions, genomic in origin, which affect the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body” Orphanet Journal of Rare Diseases 2007, 2 :17 Definition

16. Historical background S pokes in 1890, described "brown teeth" with a familial history. In 1907 Turner described some cases of hereditary hypoplasia of teeth in five generations of same family Weinmann & associates in 1945 – introduced term “AMELOGENESIS IMPERFECTA” – it is an ectodermal disturbance, mesodermal components are normal

17. etiology Dental enamel is a highly mineralised tissue Derived through the synthesis and secretion of proteins Formation of this highly organised and unusual structure is controlled in ameloblasts through interaction of a number of organic matrix molecules

18. Development of normal enamel occurs in three stages Formative stage – deposition of organic matrix – Hypoplastic AI Calcification stage – matrix is mineralized – Hypocalcified AI Maturation stage – crystallites enlarge and mature – Hypomaturative AI etiology

19. Genes and phenotypes Proteins/ enzymes forming enamel Type of AI Inheritance 1 Amelogenin Diffuse smooth hypoplastic & hypomaturation X linked 2 Ameloblastin Hypocalcified AD 3 Enamelin Hypoplastic AD, AR 4 Tuftelin hypoplastic AD,AR 5 Kallikrein Hypomaturation AR 6 Matrix metalloproteinase Pigmented hypomaturation AR

20. Modes of Mendelian Inheritance Associated with AI https:// www.google.co.in/search?q+phenotype

21. CLASSIFICATION Sekar B, Dominic Augustine, Murali S. Amelogenesis Imperfecta - A Case Report with Genetic Transmission. IJDA, 2(4), October-December, 2010 395.

22. B y Weinnman et al (1945)

23. BASED ON CLINICAL, MICRORADIOGRAPHIC AND HISTOPATHOLOGICAL FINDINGS BY Darling (1956)

24. B y Witkop (1957) Hypoplastic Hypocalcification Hypomaturation Pigmented hypomaturation Local hypoplasia

25. B y Schulze (1970) Type 1 hypoplastic Specific features , inheritance 1A Hypoplastic , pitted AD 1B Hypoplastic , local AD 1C Hypoplastic , local AR 1D Hypoplastic , smooth AD 1E Hypoplastic , smooth x-linked D 1F Hypoplastic , rough AD Typw 2 hypomaturation 2A hypomaturation 2B hypomaturation 2C Snow capped teeth, x linked 2D AD Type 3 hypocalcification 3A AD 3B AR Type 4 Hypomaturation - hypoplastic with taurodontism Type 4A Hypomaturation - hypoplastic with taurodontism AD Type 4B Hypoplastic - hypomaturation with taurodontism AD Neville BW, Douglass DD, Allen CM, Bouquot JE. Abnormalities of teeth. In: Oral and Maxillofacial Pathology. 2nd ed.. Pennsylvania:Elsevier;2004. 89-94.

26. Prevalence range from 1 in 718 to 1 in 14,000, depending on the population studied. Hypoplastic AI represents 60 – 73% of all cases, Hypomaturation AI represents 20 – 40%, and Hypocalcification AI represents 7% Prevalence

27. Clinical features

28. Hypoplastic type

29. Hypoplastic type – autosomal dominant https:// www.google.co.in/search?q=amelogenesis+hypoplastic

30. https:// www.google.co.in/search?q=amelogenesis+hypoplastic Hypoplastic type – autosomal recessive

31. Males – Thin, hard, glossy – Like crown preparations, open bite – Opaque white to brown Females – Alternating vertical bands of normal and abnormal enamel https:// www.google.co.in/search?q=amelogenesis+hypoplastic Hypoplastic type – x-linked dominant

32. Hypoplastic amelogenesis imperfecta , gen pitted pattern . Note the numerous pinpoint pits scattered across the surface of the teeth. The enamel between the pits is of normal thickness. hardness. and coloration. Hypoplastic amelogenesis imperfecta , autosomal dominant smooth pattern. Small . yellowish teeth exhibiting hard, glossy enamel with open contact Points and anterior open bite. Neville BW, Douglass DD, Allen CM, Bouquot JE. Abnormalities of teeth. In: Oral and Maxillofacial Pathology. 2nd ed.. Pennsylvania:Elsevier;2004. 89-94.

33. Autosomal dominant Autosomal recessive Hypocalcific type

34. Significance : Exposed dentin- hypersensitive anterior opn bite Rapid calculus formation Hypocalcified type – aD & AR Neville BW, Douglass DD, Allen CM, Bouquot JE. Abnormalities of teeth. In: Oral and Maxillofacial Pathology. 2nd ed.. Pennsylvania:Elsevier;2004. 89-94.

35. Dentition exhibiting diffuse yellow-brown discoloration . Note numerous teeth with loss of coronal enamel except for the cervical portion . Hypocalcified type – aD & AR Extensive loss of coronal enamel and the similar density of enamel and dentin . Neville BW, Douglass DD, Allen CM, Bouquot JE. Abnormalities of teeth. In: Oral and Maxillofacial Pathology. 2nd ed.. Pennsylvania:Elsevier;2004. 89-94.

36. Autosomal dominant X linked recessive Autosomal recessive Hypomaturative type

37. Hypomaturative type – autosomal dominant

38. https:// www.google.co.in/search?q=amelogenesis+hypomaturative Hypomaturative type – autosomal recessive

39. Snow capped Zone of white opaque enamel on incisal and occlusal surface (1/4 to 1/3 of the surface) Looks like fluorosis Anteriors , premolars/molars Both dentitions https:// www.google.co.in/search?q=snow+capped Hypomaturative type – x linked recessive

40. Predominant defect – enamel hypomaturation Enamel appears – mottled yellow-white to yellow brown Pits are seen frequently on buccal surface of teeth Radiographically – enamel appears similar to dentin Large pulp chambers may be seen in single rooted teeth in addition to varying degrees of taurodontism Hypomaturation - hypoplastic with taurodontism – Autosomal dominant https:// www.google.co.in/search?q=amelogenesis+hypomatu+tauro

41. Predominant defect – enamel hypoplasia in which enamel is thin but also hypomature Radiographically - Similar to hypomaturation-hypoplastic variant, except decrease in thickness of enamel https:// www.google.co.in/search?q=amelogenesis+hypomatu+tauro Hypoplastic - hypomaturation with taurodontism – Autosomal dominant

42. Radiographic features Loss of contour Enamel Pulp chamber https:// www.google.co.in/search?q=amelogenesis+tauro

43. TYPE CLINICAL APPEARANCE ENAMEL THICKNESS HYPOPLASTIC (TYPE I) Crowns size : small to normal, lack proxmal contacts, color varies from normal to opaque white – yellow brown Varies from thin and smooth to normal thickness with grooves, furrows and/or pits HYPOMATURATION (TYPE II) Varies from creamy opaque to marked yellow/brown, surface of teeth soft and rough, dental sensitivity and open bite common Normal thickness with enamel that often chips and abrades easily around restoration HYPOCALCIFIED (TYPE III) Opaque white to yellow-brown, soft rough enamel surface, dental sensitivity and open bite common, heavy calculus formation common Normal thickness with enamel that often chips and abrades easily HYPOMATURATION/ HYPOPLASIA/ TAURODONTISM (TYPE IV) White/Yellow- Brown mottled, teeth can appear small and lack proximal contact Reduced, hypomineralized areas and pits RADIOGRAPHIC APPEARANCE INHERITANCE Enamel has normal to slightly reduced contrast/ thin Autosomal dominant, recessive, or X-linked Enamel has contrast similar to or > than dentin, unerupted crowns have normal morphology Autosomal dominant, recessive, or X-linked Enamel has contrast similar to or < dentin, unerupted crowns have normal morphology Autosomal dominant, recessive Enamel contrast normal to slightly > dentin, large pulp chambers Autosomal dominant Neville BW, Douglass DD, Allen CM, Bouquot JE. Abnormalities of teeth. In: Oral and Maxillofacial Pathology. 2nd ed.. Pennsylvania:Elsevier;2004. 89-94.

44. Histopathological examination Very thin enamel, voids within enamel & composed of laminations of irregularly arranged enamel prisms Enamel-dentin junction, show some exaggerated scalloping. Areas of homogeneous aprismatic enamel or fused indistinct prisms, with “a reduction in distance between enamel rod incremental lines” https:// www.google.co.in/search?q=amelogenesis+slides

45. Syndromes associated Amelogenesis imperfect with taurodontism Trichodentoosseous syndrome Tricho - dento -osseous syndrome. Dentition exhibiting diffuse enamel hypop lasia and hypomaturat ion. At birth , the patient exhibit kinky "steel wool" hair texture with time , the hair gets straightened . T aurodontism of the first molar and the enamel. which is thin and similar in density to the dentin. Neville BW, Douglass DD, Allen CM, Bouquot JE. Abnormalities of teeth. In: Oral and Maxillofacial Pathology. 2nd ed.. Pennsylvania:Elsevier;2004. 89-94.

46. Cone rod dystrophy Kohlschutter-Tonz syndrome Usher syndrome Other syndromes

47. Non enamel anomalies seen in Amelogenesis Imperfecta Delayed tooth eruption Congenitally missing teeth Anterior open bite Taurodontism Pulpal calcification Root and crown resorption Hypercementosis Root malformations Malocclusion Gingivitis

48. Diagnosis Clinical diagnosis Cheesy consistency of enamel with loss of enamel Radiographic diagnosis Missing enamel cap with low or absent cusp

49. Differential diagnosis Dental fluorosis Dentinogenesis imperfecta

50. Management Cosmetic improvement Desensitizing agent Prosthetic rehabilitation https:// www.google.co.in/search?q=amelogenesis+treat+crowns

51. Reason for choosing this article D evelopmental disorder presents with severe dental anomalies . Its important to diagnose the condition as early as possible to balance the decision for early intervention and long-term survival of the restorations. Also consider the social implications for these patients and intervene to relieve their suffering. Thus, this article is an attempt to improve the clinician’s knowledge about the clinical & radiographic diagnosis as well as intervention required for such a condition.

52. Reference

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