Tricho-dento-osseous syndrome: a brief review for dentistry

Ricardo Barbosa Lima, Taigor Alves Azevedo, Amanda Lopes, Aquiles Sales Craveiro Sarmento, Carlos Eduardo Palanch Repeke

Abstract


Introduction: Tricho-dento-osseous syndrome is a ultra-rare ectodermal dysplasia related to genetic alterations in the DLX3 gene of interest to the health sciences due to its clinical manifestations. Aim: To synthesize the scientific evidence about tricho-dento-osseous syndrome, especially for dentistry. Methods: A bibliographic search was performed in the MEDLINE / PubMed, Web of Science and Scopus databases. A search strategy with descriptors was applied to all databases mentioned to reach scientific articles. The articles reached in all databases had their titles and abstracts read in search of adaptation to the proposed objective. There was no restriction on the year of publication, country or language. Literature review: Patients diagnosed with this syndrome have dental enamel defects and severe taurodontism, especially in the permanently lower first molars. In addition to these signs, other manifestations may be associated, such as curly hair, increased bone density and changes in craniofacial bones. The diagnosis of tricho-dento-osseous syndrome can be challenging due to the heterogeneity and wide phenotypic variation presented by patients with DLX3 mutations, since this gene is associated with several functions, especially related to cell differentiation and biomineralization. In addition, it is necessary to consider that other dental anomalies may be confused with tricho-dento-osseous syndrome, especially cases of imperfect amelogenesis associated with taurodontism. Conclusion: For dentistry, oral manifestations caused by this syndrome become relevant for diagnostic and therapeutic purposes, although there are no clinical protocols for dental management of this patients.

Keywords


Tricho-dento-osseous syndrome; Ectodermal dysplasia; Oral manifestations; Review literature as topic

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References


Jain P, Kaul R, Saha S, Sarkar S. Tricho-dento-osseous syndrome and precocious eruption. J Clin Exp Dent. 2017;9(3):494–7.

Whitehouse LLE, Smith CEL, Poulter JA, Brown CJ, Patel A, Lamb T, et al. Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndrome. Oral Dis. 2019;25(1):182-91.

Zhao N, Han D, Liu H, Li Y, Wong SW, Cao Z, et al. Senescence: novel insight into DLX3 mutations leading to enhanced bone formation in Tricho-Dento-Osseous syndrome. Sci Rep. 2016;6:38680.

Al-Batayneh OB. Tricho-dento-osseous syndrome: diagnosis and dental management. Int J Dent. 2012;2012:514692.

Price JA, Wright JT, Walker SJ, Crawford PJM, Aldred MJ, Hart TC. Tricho-dento-osseous syndrome and amelogenesis imperfecta with taurodontism are genetically distinct conditions. Clin Genet. 1999;56(1):35-40.

Robinson GC, Miller JR, Worth HM. Hereditary enamel hypoplasia: its association with characteristic hair structure. Pediatrics. 1966;37:498–502.

Lichtenstein JR, Warson R. Syndrome of dental anomalies, curly hair, and sclerotic bone. Birth Defects Orig Artic Ser. 1971;7:308–11.

Lichtenstein JR, Warson R, Jorgenson R, Dorst JP, McKusick VA. The tricho-dento-osseous (TDO) syndrome. Am J Hum Genet. 1972;24:569–82.

Quattromani F, Shapiro SD, Young RS, Jorgenson RJ, Parker JW, Blumhardt R. Clinical heterogeneity in the tricho-dento-osseous syndrome. Hum Genet. 1983;64:116–21.

Shapiro SD, Quattromani FL, Jorgenson RJ, Young RS. Tricho-dento-osseous syndrome: heterogeneity or clinical variability. Am J Med Genet. 1983;16:225–36.

Seow WK. Trichodentoosseous (TDO) syndrome: case report and literature review. Pediatr Dent. 1993;15:355–61.

Seow WK. Taurodontism of the mandibular first permanent molar distinguishes between the tricho-dento-osseous (TDO) syndrome and amelogenesis imperfecta. Clin Genet. 1993;43(5):240–6.

Hart TC, Bowden DW, Bolyard J, Kula K, Hall K, Wright JT. Genetic linkage of the tricho-dento-osseous syndrome to chromosome 17q21. Hum Mol Genet. 1997;6(13):2279–84.

Price JA, Bowden DW, Wright JT, Pettenati MJ, Hart TC. Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome. Hum Mol Genet. 1998;7(3):563–9.

Price JA, Wright JT, Kula K, Bowden DW, Hart TC. A common DLX3 gene mutation is responsible for tricho-dento-osseous syndrome in Virginia and North Carolina families. J Med Genet. 1998;35:825–28.

Wright JT, Kula K, Hall K, Simmons JH, Hart TC. Analysis of the tricho-dento-osseous syndrome genotype and phenotype. Am J Med Genet. 1997;72(2):197-204.

Dong J, Amor D, Aldred MJ, Gu T, Escamilla M, MacDougall M. DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. Am J Med Genet A. 2005;133A(2):138-41.

Wright JT, Hong SP, Simmons D, Daly B, Uebelhart D, Luder HU. DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dento-osseous syndrome. Am J Med Genet A. 2008;146A(3):343-9.

Duverger O, Lee D, Hassan MQ, Chen SX, Jaisser F, Lian JB, et al. Molecular consequences of a frameshifted DLX3 mutant leading to Tricho-Dento-Osseous syndrome. J Biol Chem. 2008;283(29):20198-208.

Ghoul-Mazgar S, Hotton D, Lézot F, Blin-Wakkach C, Asselin A, Sautier JM, et al. Expression pattern of Dlx3 during cell differentiation in mineralized tissues. Bone. 2005;37(6):799-809.

Zhang Z, Tian H, Lv P, Wang W, Jia Z, Wang S, et al. Transcriptional factor DLX3 promotes the gene expression of enamel matrix proteins during amelogenesis. PLoS One. 2015;10(3):e0121288.

Zeng L, Zhao N, Han D, Liu H, Liu Y, Wang Y, et al. DLX3 mutation negatively regulates odontogenic differentiation of human dental pulp cells. Arch Oral Biol. 2017;77:12-7.

Zeng L, Zhao N, Li F, Han D, Liu Y, Liu H, et al. miR-675 promotes odontogenic differentiation of human dental pulp cells by epigenetic regulation of DLX3. Exp Cell Res. 2018;367(1):104-11.

Nguyen T, Phillips C, Frazier-Bower S, Wright T. Craniofacial variations in the tricho-dento-osseous syndrome. Clin Genet. 2013;83(4):375-9.

Hegde V, Srikanth K. Interradicular dentin dysplasia associated with amelogenesis imperfecta with taurodontism or trichodentoosseous syndrome: a diagnostic dilemma. Indian J Dent Res. 2014;25(2):269-71.

Crawford PJM, Aldred MJ. Amelogenesis Imperfecta with taurodontism and the trichodentoosseous syndrome separate conditions or a spectrum of disease. Clin Genet. 1990;38:44-50.

Pavlic A, Lukinmaa PL, Nieminen P, Kiukkonen A, Alaluusua S. Severely hypoplastic amelogenesis imperfecta with taurodontism. Int J Paediatr Dent. 2007;17(4):259-66.

Li Y, Han D, Zhang H, Liu H, Wong S, Zhao N, et al. Morphological analyses and a novel de novo DLX3 mutation associated with tricho-dento-osseous syndrome in a Chinese family. Eur J Oral Sci. 2015;123(4):228-34.

Spangler GS, Hall KI, Kula K, Hart TC, Wright JT. Enamel structure and composition in the tricho-dento-osseous syndrome. Connect Tissue Res. 1998;39(1-3):165-75.

Seow WK, Lai PY. Association of taurodontism with hypodontia: a controlled study. Pediatr Dent. 1989;11(3):214-9.

Kula K, Hall K, Hart T, Wright JT. Craniofacial morphology of the tricho-dento-osseous syndrome. Clin Genet. 1996;50(6):446-54.

Islam M, Lurie AG, Reichenberger E. Clinical features of tricho-dento-osseous syndrome and presentation of three new cases: an addition to clinical heterogeneity. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2005;100(6):736-42.

Mayer DE, Baal C, Litschauer-Poursadrollah M, Hemmer W, Jarisch R. Uncombable hair and atopic dermatitis in a case of trichodento-osseous syndrome. J Dtsch Dermatol Ges. 2010;8(2):102-4.

Al Kaissi A, Skoumal M, Roetzer K, Grill F, Klaushofer K. A patient with melorheostosis manifesting with features similar to tricho-dento-osseous syndrome: a case report. J Med Case Rep. 2008;19;2:51.

Harbuz R, Bilan F, Couet D, Charraud V, Kitzis A, Gilbert-Dussardier B. Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: a familial case with 17q21.33-q22 (COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion. Am J Med Genet A. 2013;161A(10):2504-11.

Yokoi T, Saito T, Nagai JI, Kurosawa K. 17q21.32-q22 Deletion in a girl with osteogenesis imperfecta, tricho-dento-osseous syndrome, and intellectual disability. Congenit Anom (Kyoto). 2019;59(2):51-2.

Seow WK. Developmental defects of enamel and dentine: challenges for basic science research and clinical management. Aust Dent J. 2014;59 Suppl 1:143-54.

Ceyhan D, Kirzioglu Z, Emek T. A long-term clinical study on individuals with amelogenesis imperfecta. Niger J Clin Pract. 2019;22(8):1157-62.

Sabandal MM, Schäfer E. Amelogenesis imperfecta: review of diagnostic findings and treatment concepts. Odontology. 2016;104(3):245-56.




DOI: https://doi.org/10.22456/2177-0018.100858

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