dentin dysplasia


Summary: An apparently hereditary disorder of dentin formation, marked by a normal appearance of coronal dentin associated with pulpal obliteration, faulty root formation, and a tendency for peripheral lesions without obvious cause. (From Dorland, 27th ed)

Top Publications

  1. Vigneswaran N, Muller S. Oral and maxillofacial pathology case of the month. Dentin dysplasia type I. Tex Dent J. 2002;119:1209, 1216 pubmed
  2. Beattie M, Kim J, Gong S, Murdoch Kinch C, Simmer J, Hu J. Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. J Dent Res. 2006;85:329-33 pubmed
    Dentinogenesis imperfecta (DGI) and dentin dysplasia (DD) are allelic disorders that primarily affect the formation of tooth dentin...
  3. Tahmassebi J, Day P, Toumba K, Andreadis G. Paediatric dentistry in the new millennium: 6. Dental anomalies in children. Dent Update. 2003;30:534-40 pubmed
    ..Guidelines are provided for clinicians to identify children who deviate from normal dental development in order to provide appropriate interventions or make appropriate referrals. ..
  4. Ravanshad S, Khayat A. Endodontic therapy on a dentition exhibiting multiple periapical radiolucencies associated with dentinal dysplasia Type 1. Aust Endod J. 2006;32:40-2 pubmed
    ..Based on the results of this case report, conventional endodontic treatment for cases with pulp necrosis and periapical radiolucencies in dentinal dysplasia is highly recommended. ..
  5. Macdougall M, Dong J, Acevedo A. Molecular basis of human dentin diseases. Am J Med Genet A. 2006;140:2536-46 pubmed
    ..These diseases have been classified into two major groups with subtypes: dentin dysplasia (DD) types I and II and dentinogenesis imperfecta (DGI) types I-III...
  6. Muñoz Guerra M, Naval Gias L, Escorial V, Sastre Perez J. Dentin dysplasia type I treated with onlay bone grafting, sinus augmentation, and osseointegrated implants. Implant Dent. 2006;15:248-53 pubmed
    b>Dentin dysplasia is a defect of dentin development that was classified by Shields as type I and type II. The teeth in dentin dysplasia type I are characterized by normal enamel and abnormal dentin in the crown and root...
  7. Kim J, Simmer J. Hereditary dentin defects. J Dent Res. 2007;86:392-9 pubmed
    ..inherited dentin defects are divided into 5 types: 3 types of dentinogenesis imperfecta (DGI), and 2 types of dentin dysplasia (DD). DGI type I is osteogenesis imperfecta (OI) with DGI...
  8. O Carroll M, Duncan W. Dentin dysplasia type I. Radiologic and genetic perspectives in a six-generation family. Oral Surg Oral Med Oral Pathol. 1994;78:375-81 pubmed
    This is a report of a kindred of at least 181 members, of whom 35 exhibit or are reported to have dentin dysplasia type I. Six others are suspected of having the condition...
  9. McKnight D, Suzanne Hart P, Hart T, Hartsfield J, Wilson A, Wright J, et al. A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene. Hum Mutat. 2008;29:1392-404 pubmed publisher
    Within nine dentin dysplasia (DD) (type II) and dentinogenesis imperfecta (type II and III) patient/families, seven have 1 of 4 net -1 deletions within the approximately 2-kb coding repeat domain of the DSPP gene while the remaining two ..

More Information


  1. Rajpar M, Koch M, Davies R, Mellody K, Kielty C, Dixon M. Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization. Hum Mol Genet. 2002;11:2559-65 pubmed
  2. Shankly P, Mackie I, Sloan P. Dentinal dysplasia type I: report of a case. Int J Paediatr Dent. 1999;9:37-42 pubmed
    ..In this case, despite diagnosis being made at an early age and the provision of regular dental care, the patient is now losing teeth because of spontaneous abscess formation. ..
  3. O Carroll M, Duncan W, Perkins T. Dentin dysplasia: review of the literature and a proposed subclassification based on radiographic findings. Oral Surg Oral Med Oral Pathol. 1991;72:119-25 pubmed
    The literature is reviewed to determine the radiographic appearance of the reported cases of dentin dysplasia. The sometimes confusing nomenclature is rationalized...
  4. Von Marschall Z, Mok S, Phillips M, McKnight D, Fisher L. Rough endoplasmic reticulum trafficking errors by different classes of mutant dentin sialophosphoprotein (DSPP) cause dominant negative effects in both dentinogenesis imperfecta and dentin dysplasia by entrapping normal DSPP. J Bone Miner Res. 2012;27:1309-21 pubmed publisher
    Families with nonsyndromic dentinogenesis imperfecta (DGI) and the milder, dentin dysplasia (DD), have mutations in one allele of the dentin sialophosphoprotein (DSPP) gene...
  5. Savage T, Bennett T, Huang Y, Kelly P, Durant N, Adams D, et al. Mandibular phenotype of p20C/EBPbeta transgenic mice: Reduced alveolar bone mass and site-specific dentin dysplasia. Bone. 2006;39:552-64 pubmed
    ..was thinner (25-30% of WT at the alveolar crest) with an amorphous globular structure characteristic of dentin dysplasia. FLAG immunostaining was seen in both lingual and labial odontoblasts, indicating that the site-specific ..
  6. McKnight D, Simmer J, Hart P, Hart T, Fisher L. Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. J Dent Res. 2008;87:1108-11 pubmed
    Dentinogenesis imperfecta (DGI) and dentin dysplasia (DD) are allelic disorders due to mutations in DSPP. Typically, the phenotype breeds true within a family...
  7. Lee S, Hu J, Lee K, Simmer J, Kim J. A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia. J Endod. 2008;34:1470-3 pubmed publisher
    ..3 encodes the major noncollagenous protein in tooth dentin. DSPP mutations are the principal cause of dentin dysplasia type II, dentinogenesis imperfecta type II, and dentinogenesis imperfecta type III...
  8. Witkop C. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J Oral Pathol. 1988;17:547-53 pubmed
    ..The classification and prevalence of amelogenesis imperfecta is updated based upon new information in the literature. Problems with the currently used classification of inherited dentin defects are discussed. ..
  9. MacDougall M. Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci. Eur J Oral Sci. 1998;106 Suppl 1:227-33 pubmed
    Dentinogenesis imperfecta type II and dentin dysplasia type II are diseases resulting in abnormal dentin formation, which have been mapped to overlapping regions of human chromosome 4q defined by markers D4S2691 and D4S2692 (6...
  10. Song Y, Wang C, Fan M, Su B, Bian Z. Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population. J Med Genet. 2008;45:457-64 pubmed publisher
    ..Our data provide the first evidence that DPP mutations can cause hereditary dentin disorders and suggest that in-frame length variations and missense SNPs in DPP have no obvious pathogenetic effects on dentin formation. ..
  11. Hart P, Hart T. Disorders of human dentin. Cells Tissues Organs. 2007;186:70-7 pubmed
    ..Thus, these disorders should likely be called DSPP-associated dentin defects, with DD type II representing the mild end of the phenotypic spectrum and DI type III representing the severe end. ..
  12. Salamon T, Sućur D, Nikulin A, Lazović Tepavac O, Topic B, Huml I, et al. [Palmoplantar epidermal atrophy with hypokeratosis, dys- and hypotrichosis, hypodontia, enamel and dentin hypoplasia, isolated cleft palate with cleft uvula, strabismus cryptorchism and other anomalies--an undescribed ecto-mesodermal dysplasia?]. Hautarzt. 1991;42:237-41 pubmed
    ..Transplantation of the patient's skin from the right thigh to the lesion on the right sole was tried. The authors postulate a previously unreported form of ecto-mesodermal dysplasia in this case. ..
  13. Desai R, Vanaki S, Puranik R, Rashmi G, Nidawani P. An unusual combination of idiopathic generalized short-root anomaly associated with microdontia, taurodontia, multiple dens invaginatus, obliterated pulp chambers and infected cyst: a case report. J Oral Pathol Med. 2006;35:407-9 pubmed
  14. Brenneise C, Conway K. Dentin dysplasia, type II: report of 2 new families and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1999;87:752-5 pubmed
    b>Dentin dysplasia, type II, is an inherited autosomal dominant disorder in which primary teeth are amber and translucent, with pulp chambers obliterated by abnormal dentin...
  15. Bloch Zupan A, Jamet X, Etard C, Laugel V, Muller J, Geoffroy V, et al. Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects. Am J Hum Genet. 2011;89:773-81 pubmed publisher
    ..Here, we report on a severe developmental dental defect that results in a dentin dysplasia phenotype with major microdontia, oligodontia, and shape abnormalities in a highly consanguineous family...
  16. Lee K, Lee S, Jung S, Lee Z, Kim J. Functional splicing assay of DSPP mutations in hereditary dentin defects. Oral Dis. 2011;17:690-5 pubmed publisher
    ..Our data may provide insight into the contribution of DSPP mutations in the pathogenesis and genotype-phenotype correlations of hereditary dentin defects. ..
  17. Maciejewska I, Chomik E. Hereditary dentine diseases resulting from mutations in DSPP gene. J Dent. 2012;40:542-8 pubmed publisher
    ..Thus comprehensive research on the cellular fate and processing of both normal and mutated DSPP is still required. ..
  18. Vieira A, Lee M, Vairo F, Loguercio Leite J, Munerato M, Visioli F, et al. Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). Oral Surg Oral Med Oral Pathol Oral Radiol. 2015;120:e235-9 pubmed publisher
  19. Bespalez Filho R, Couto S, Souza P, Westphalen F, Jacobs R, Willems G, et al. Orthodontic treatment of a patient with dentin dysplasia type I. Am J Orthod Dentofacial Orthop. 2013;143:421-5 pubmed publisher
    b>Dentin dysplasia is a genetic disorder of the teeth that affects the dentin and the pulp...
  20. Lee S, Lee K, Hwang Y, Kida M, Tsutsumi T, Ariga T, et al. Identification of the DSPP mutation in a new kindred and phenotype-genotype correlation. Oral Dis. 2011;17:314-9 pubmed publisher
    Hereditary dentin defects can be grouped into three types of dentinogenesis imperfecta (DGI) and two types of dentin dysplasia. Tooth enamel is considered normal in patients with hereditary dentin defects, but is easily worn down and ..
  21. Reichart P, Philipsen H. [Revision of the 1992 edition of the WHO histological typing of odontogenic tumors. A suggestion]. Mund Kiefer Gesichtschir. 2003;7:88-93 pubmed
  22. Vieira A, Modesto A, Cabral M. Dentinal dysplasia type I: report of an atypical case in the primary dentition. ASDC J Dent Child. 1998;65:141-4 pubmed
    ..An typical case of dentinal dysplasia type I affecting only the incisors and primary first molars is documented. There were no signs of a family heritage or signs of the developing permanent dentition being affected precociously. ..
  23. Duverger O, Zah A, Isaac J, Sun H, Bartels A, Lian J, et al. Neural crest deletion of Dlx3 leads to major dentin defects through down-regulation of Dspp. J Biol Chem. 2012;287:12230-40 pubmed publisher
    ..This establishes a regulatory pathway where the transcription factor Dlx3 is essential in dentin formation by directly regulating a crucial matrix protein. ..
  24. Liu H, Li J, Lei H, Zhu T, Gan Y, Ge L. Genetic etiology and dental pulp cell deficiency of hypophosphatasia. J Dent Res. 2010;89:1373-7 pubmed publisher
    ..The aim of this study was to examine whether TNSALP mutation in dental pulp cells contributes to dentin dysplasia in hypophosphatasia...
  25. Islam M, Cohen D, Kanter K, Stewart C, Katz J, Bhattacharyya I. Florid cemento-osseous dysplasia mimicking multiple periapical pathology--an endodontic dilemma. Gen Dent. 2008;56:559-62 pubmed
    ..This case report illustrates the point that periapical radiolucencies may represent benign fibro-osseous lesions that may be overlooked or result in unnecessary endodontic treatment...
  26. VanDenBerghe J, Panther B, Gound T. Pulp stones throughout the dentition of monozygotic twins: a case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1999;87:749-51 pubmed
    ..This case report describes twin sisters with pulpal calcifications in their entire dentitions. No systemic cause was detected. The pattern of calcification was partially consistent with the hereditary condition of dentinal dysplasia. ..
  27. Cabay R. An overview of molecular and genetic alterations in selected benign odontogenic disorders. Arch Pathol Lab Med. 2014;138:754-8 pubmed publisher
    ..These advancements may lead to better prevention and treatment paradigms and improved patient outcomes. ..
  28. Pardo V R, Castillo T S, Vieira A. [Genetic studies of a Chilean family with three different dental anomalies]. Rev Med Chil. 2006;134:1541-8 pubmed
    ..Finally, we are reporting a mutation in DSPP in an asymptomatic 2-year-old child, which illustrates the ethical pitfalls of interpreting molecular data for genetic counseling of young and/or asymtomatic individuals. ..
  29. Kosinski R, Chaiyawat Y, Rosenberg L. Localized deficient root development associated with taurodontism: case report. Pediatr Dent. 1999;21:213-5 pubmed
    ..This finding might be a variation of DDI. However, it is possible that this type of developmental defect could occur because of regionalized abnormalities in cellular function and proliferation as occurs in regional odontodysplasia. ..
  30. Wang S, Chan H, Rajderkar S, Milkovich R, Uston K, Kim J, et al. Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families. Eur J Oral Sci. 2011;119 Suppl 1:158-67 pubmed publisher
    Dentin sialophosphoprotein (DSPP) mutations cause dentin dysplasia type II (DD-II) and dentinogenesis imperfecta types II and III (DGI-II and DGI-III, respectively)...
  31. Thyagarajan T, Kulkarni A. Transforming growth factor-beta1 negatively regulates crystallin expression in teeth. J Bone Miner Res. 2002;17:1710-7 pubmed
    ..Because crystallins are believed to be stress-related proteins, their expression in teeth implicates them in a similar role because teeth are constantly subjected to physical friction and temperature fluctuations. ..
  32. Neumann F, Würfel F, Mundt T. Dentin dysplasia type I--a case report. Ann Anat. 1999;181:138-40 pubmed
    A case report on dentin dysplasia type I, a congenital disease (autosomal dominant gene defect) affecting deciduous and permanent teeth, is depicted including representations of clinical and histological features, X-ray and CT-findings...
  33. Naik V, Kale A. Dentin dysplasia: single-tooth involvement?. Quintessence Int. 2009;40:183-6 pubmed
    b>Dentin dysplasia is a genetic defect of dentin formation inherited as an autosomal dominant trait. It is characterized by normal enamel but atypical dentin formation with abnormal pulpal morphology...
  34. Candido G, Viana K, Watanabe S, Vencio E. Peripheral dentinogenic ghost cell tumor: a case report and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009;108:e86-90 pubmed publisher
    ..Denditric cells (Langerhans cells and melanocytes) were identified inside tumoral islands. A rare case of peripheral DGCT is reported, with immunohistochemical analysis and a review of the English literature. ..
  35. Rocha C, Nelson Filho P, Silva L, Assed S, Queiroz A. Variation of dentin dysplasia type I: report of atypical findings in the permanent dentition. Braz Dent J. 2011;22:74-8 pubmed
    b>Dentin dysplasia is a rare defect of dentin development with an autosomal dominant pattern of inheritance, which is generally divided into 2 main classes based on the clinical and radiographic appearance of the affected dental tissues: ..
  36. Parekh S, Kyriazidou A, Bloch Zupan A, Roberts G. Multiple pulp stones and shortened roots of unknown etiology. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006;101:e139-42 pubmed
    ..The recent discovery that mutation of the bicistronic dentine sialophosphoprotein gene (DSPP) is involved in DD may provide solutions to this problem. ..
  37. Dean J, Hartsfield J, Wright J, Hart T. Dentin dysplasia, type II linkage to chromosome 4q. J Craniofac Genet Dev Biol. 1997;17:172-7 pubmed
    b>Dentin dysplasia, type II (MIM*125420) is an autosomal dominant disorder of dentin development...
  38. Ranta H, Lukinmaa P, Waltimo J. Heritable dentin defects: nosology, pathology, and treatment. Am J Med Genet. 1993;45:193-200 pubmed
    Heritable dentin defects have been divided into 2 main categories: dentinogenesis imperfecta (DI) and dentin dysplasia (DD). Recent studies have shown that they share many features in common...
  39. Ozer L, Karasu H, Aras K, Tokman B, Ersoy E. Dentin dysplasia type I: report of atypical cases in the permanent and mixed dentitions. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004;98:85-90 pubmed
    b>Dentin dysplasia type I is a rare hereditary disturbance of dentin formation characterized clinically by nearly normal appearing crowns and severe hypermobility of teeth...
  40. van Heerden W, Raubenheimer E, Dreyer A, Benn A. Amelogenesis imperfecta: multiple impactions associated with odontogenic fibromas (WHO) type. J Dent Assoc S Afr. 1990;45:467-71 pubmed
  41. Macdougall M. Dental structural diseases mapping to human chromosome 4q21. Connect Tissue Res. 2003;44 Suppl 1:285-91 pubmed
    ..and dentin formation: amelogenesis imperfecta (AI), dentinogenesis imperfecta (DGI) types II and III, and dentin dysplasia (DD) type II...
  42. Bello I, Qannam A, Al Zahrani A, Aldosari A. Peripheral dentinogenic ghost cell tumor: report of a case and literature review. Int J Surg Pathol. 2012;20:494-9 pubmed
    ..The islands were associated with ghost cells and dysplastic dentin. This report includes the clinical, radiographic, and microscopic features of the patient, in addition to the review of the English literature on the tumor. ..
  43. Aminabadi N, Ganji A, Vafaei A, Pourkazemi M, Oskouei S. Oculodentodigital dysplasia: disease spectrum in an eight-year-old boy, his parents and a sibling. J Clin Pediatr Dent. 2009;33:337-41 pubmed
    ..To our knowledge, the case that we report here is the first case with mamelon-shaped tip of the tongue and enlarged midpalatal raphe. ..
  44. Kalk W, Batenburg R, Vissink A. Dentin dysplasia type I: five cases within one family. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1998;86:175-8 pubmed
    Five cases of dentin dysplasia type I within one family are described...
  45. Leccisotti S, Eramo S, Palattella P, Dolci G. Dentin dysplasia type I. Report of case and ultrastructural study. Minerva Stomatol. 1998;47:545-51 pubmed
    Radicular dentin dysplasia (DD-I) is a rare hereditary dental alteration. It is characterized clinically by almost normal looking crowns and severe hypermobility of the teeth...
  46. Seow W, Shusterman S. Spectrum of dentin dysplasia in a family: case report and literature review. Pediatr Dent. 1994;16:437-42 pubmed
    ..A spectrum of dentin dysplasia was noted within the family...
  47. Barron M, McDonnell S, Mackie I, Dixon M. Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia. Orphanet J Rare Dis. 2008;3:31 pubmed publisher
    ..Where diagnosis occurs early in life and treatment follows the outlined recommendations, good aesthetics and function can be obtained. ..
  48. Da Rós Gonçalves L, Oliveira C, Holanda R, Silva Boghossian C, Colombo A, Maia L, et al. Periodontal status of patients with dentin dysplasia type I: report of three cases within a family. J Periodontol. 2008;79:1304-11 pubmed
    b>Dentin dysplasia type I (DDI) is a rare hereditary disturbance of dentin formation...
  49. Takeda Y, Kuroda M, Suzuki A. Ameloblastic odontosarcoma (ameloblastic fibro-odontosarcoma) in the mandible. Acta Pathol Jpn. 1990;40:832-7 pubmed
    ..Therefore the present case was diagnosed as ameloblastic odontosarcoma. After 2 years, the patient died of uncontrollable local recurrence and extension to the cranial base. ..
  50. Duncan W, Perkins T, O Carroll M, Hill W. Type I dentin dysplasia: report of two cases. Ann Dent. 1991;50:18-21 pubmed
    b>Dentin dysplasia is a rare developmental disturbance of dentin affecting approximately 1:100,000 people. It has been classified as an autosomal dominant disease. Two distinct forms of dentin dysplasia have been described...
  51. Peters E, Cohen M, Altini M. Rough hypoplastic amelogenesis imperfecta with follicular hyperplasia. Oral Surg Oral Med Oral Pathol. 1992;74:87-92 pubmed
    ..The features of these teeth, the nature of the associated follicular lesions, and their relationship to the unerupted teeth are discussed. ..
  52. El Rouby D, Bashir M, Korany N. The effect of lathyrism on dentin structure of the rat incisors: a morphometric and scanning electron microscopic investigation. J Oral Pathol Med. 2010;39:424-30 pubmed publisher
    ..The present study was designed to study the effect of beta-aminopropionitrile (beta-APN), present in Lathyrus sativus grass pea consumed in drought prone areas, on dentin of the continuously erupting rat incisors...
  53. Ranta H, Lukinmaa P, Knif J. Dentin dysplasia type II: absence of type III collagen in dentin. J Oral Pathol Med. 1990;19:160-5 pubmed
    A three-generation family with dentin dysplasia (DD) Type II is presented. Affected family members share common radiologic features with clinically varied expression of tooth discoloration and occlusal wear...