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Órgano Oficial de la Asociación Dental Mexicana

2019, Number 2

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Rev ADM 2019; 76 (2)

Type 1 hypohidrotic ectodermal dysplasia X-linked, the Christ-Siemens-Touraine syndrome: a case clinic and literature review

Banderas TJA, Hernández HAB, Ortega DCG, Torres CMA

Language: Spanish
References: 45
Page: 97-108
PDF size: 339.96 Kb.


ABSTRACT

Type 1 hypohidrotic ectodermal dysplasia X-linked (DEH1-X) -Christ-Siemens-Touraine syndrome- is a genodermatosis. Ectodermal dysplasias are characterized by development alterations on one or more ectodermal derived structures. IN DEH1-X, patients present hypotrichosis, hypohidrosis and hypodontia of variable severity. Aims: To describe anatomic and clinical characteristics of the DEH1-X, dental treatment, and to differentiate from other clinical conditions. Case report: Male teenager, 18-year-old, was referred for replacement of anterior dental prosthesis. Family history for hypohidrotic ectodermal dysplasia was positive, younger brother with the same condition. Treatment consisted of anterior labial frenectomy and dental prosthetic rehabilitation with acceptable clinical and esthetic’s results. Discussion: When diagnosing and treating patients with developmental genetic conditions is particularly important the early detection and the participation of interdisciplinary team work. The clinical treatment of hard and soft tissues of the oral cavity has to be planned and personalized according to the particular needing of each case, in order to achieve better results and long term prognosis. Conclusions: DEH1-X is a congenital developmental disorder, which affects oral structures, should be identified and treated appropriately by the dentist to prevent further dental complications.


REFERENCES

  1. Priolo M, Laganà C. Ectodermal dysplasias: a new clinical-genetic classification. J Med Genet. 2001; 38: 579-585.

  2. Lamartine J. Towards a new classification of ectodermal dysplasias. Clin Exp Dermatol. 2003; 28: 351-355.

  3. García-Martín P, Hernández-Martín A, Torrelo A. Ectodermal dysplasias: a clinical and molecular review. Actas Dermo-Sifiliográficas (English Edition). 2013; 104 (6): 451-470.

  4. Solomon LM, Keuer EJ. The ectodermal dysplasia. Arch Dermatol. 1980; 116: 1295-1299.

  5. Alarcón R, Ramírez P, Yañez T, Alarcón F, Solís F. Displasia ectodérmica hipohidrótica, a propósito de un caso. Dermatol Pediatr Lat. 2006; 4 (3): 204-2010.

  6. Priolo M. Ectodermal dysplasias: An overview and update of clinical and molecular-functional mechanisms. Am J Med Genet Part A. 2009; 149A: 2003-2013.

  7. Gómez de Ferraris ME, Campos Muñoz A. Histología y embriología bucodental. 2ª ed. Madrid, España: Editorial Médica Panamericana; 2009. pp. 21-81.

  8. Moore KL, Persaud TVN, Torchia MG. Embriología clínica. 9ª ed. Barcelona, España. Elsevier; 2013.

  9. Segurado-Rodríguez MA, Ortiz-de Frutos FJ, Cornejo-Navarro P, Guerra-Tapia A, Iglesias-Díez L, Rodríguez-Peralto JL et al. Displasia ectodérmica hipohidrótica: una causa de fiebre de origen desconocido. An Esp Pediatr. 2002; 56: 253-257.

  10. Weizmann Institute of Science. s.f. 1. GeneCards®. EDA Gene. Ectodysplasin A. Available in: http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDA.

  11. Weizmann Institute of Science. s.f. 2. GeneCards®. EDARADD Gene. EDAR Associated Death Domain. Available in: http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDARADD.

  12. Salinas CF, Irvine AD, Itin PH, Di Giovanna JJ, Schneider H, Clarke AJ et al. Second International Conference on a classification of ectodermal dysplasias: development of a multiaxis model. Am J Med Genet. 2014; Part A 164A: 2482-2489.

  13. Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guique P, Masmoudi S et al. Only four genes (EDA1, EDAR, EDARDD and WNTA10A account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Human Mutat. 2011; 32: 70-72.

  14. Itin PH. Ectodermal dysplasia: thoughts and practical concepts concerning disease classification –the role of functional pathways in the molecular genetic diagnosis. Dermatology. 2013; 226: 111-114. Available in: http://www.karger.com/Article/Pdf/346613 doi: 10.1159/000346613.

  15. Delgado-Pecellín I, Castillo-Reguera Y, Delgado-Pecellín C, Bueno-Delgado MA, González-Valencia JP, Obando-Santaella I et al. Displasia ectodérmica anhidrótica asociada a déficit de lectina de unión a manosa. Anales de Pediatría. 2012; 77 (1): 43-46.

  16. Pinheiro M, Freire-Maia N. Ectodermal dysplasias: a clinical classification and a causal review. Am J Med Genet. 1994; 53 (2): 153-162.

  17. Oeckinghaus A, Ghosh S. The NF-κB family of transcription factors and its regulation. Cold Spring Harb Perspect Biol. 2009; 1: a000034.

  18. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {# 305100}: {03/13/2017}: World Wide Web URL: https://omim.org/.

  19. National Foundation for Ectodermal Dysplasias. 2017. Available in: https://www.nfed.org/learn/research/classification-ectodermal-dysplasias/.

  20. Wright JT, Grange DK, Fete M. Hypohidrotic ectodermal dysplasia. GeneReviews®. 2017. [Internet]. Available in: https://www.ncbi.nlm.nih.gov/books/NBK1112/.

  21. Mortier K, Wackens G. Ectodermal dysplasia anhidrotic. Orphanet Encyclopedia. 2004. Available in: http://www.orpha.net/data/patho/GB/uk-ectodermal-dysplasia-anhidrotic.pdf.

  22. Weech AA. Hereditary ectodermal dysplasia (congenital ectodermal defect): a report of two cases. Am J Dis Child. 1929; 37: 766-790.

  23. Sybert V, Zonana J. Displasias ectodérmicas. En: Fitzpatrick TB, Freedberg, Eisen, Wolff, Goldsmith, Katz editores. Dermatología en medicina general. 6ª ed. Buenos Aires. Ed. Médica Panamericana. 2005. pp: 586-594.

  24. Goodman RM, Gorlin RJ. Displasia ectodérmica hipohidrótica. En: Trastornos genéticos. Barcelona. Ed. JIMS. 1973. pp. 94-5.

  25. Deshmukh S, Prashanth S. Ectodermal dysplasia: a genetic review. Int J Clin Pediatr Dent. 2012; 5 (3): 197-202.

  26. More CHB, Bhavsar K, Joshi J, Varma SN, Tailor M. Hereditary ectodermal dysplasia: a retrospective study. J Nat Sci Biol Med. 2013; 4 (2): 445-450.

  27. Muñoz F, Lestringant G, Sybert V et al. Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder. Am J Hum Genet. 1997; 61: 94-100.

  28. Araníbar DL, Lay-Son RG, Sanz CP, Castillo TS. Displasia ectodérmica hipohidrótica, caso clínico y revisión de la literatura. Rev Chil Pediatr. 2005; 76 (2): 166-172.

  29. Yavuz I, Baskan Z, Ulku R, Dulgergil TC, Dari O, Ece A et al. Ectodermal dysplasia: retrospective study of fifteen cases. Arch Med Res. 2006; 37: 403-409.

  30. Kalkan A, Yeniocak S, Bilir O, Ersunan G, Giakoup B. A rare cause of fever in the emergency department: anhidrotic ectodermal dysplasia. Tr J Emerg Med. 2013; 13 (2): 89-91.

  31. Marín-Botero ML, Espinal-Botero G, Arroyo-Fuentes TM, Posso-Zapata MV, David-Pérez M, Castañeda-Peláez DA et al. Displasia ectodérmica hipohidrótica: reporte de casos. Av. Odontoestomatol. 2013; 29 (1): 11-23.

  32. Pipa-Vallejo A, López-Arranz ME, González-García M. Tratamiento odontológico en la displasia ectodérmica. Actualización. Av. Odontoestomatol. 2006; 22 (3): 171-176.

  33. Goodwin AF, Larson JR, Jones KB, Liberton DK, Landan M et al. Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia. Mol Genet Genomic Med. 2014; 2 (5): 422-429.

  34. Sonn MGL, Romero-Jiménez. FJ. Anodoncia total en un niño de 11 años. ODOUS Científica. 2010; 11(1): 32-36.

  35. Massís-Calvo P, Montero-Salazar O, Gómez-Fernández A. Diagnóstico y manejo odontológico del paciente infantil con displasia ectodérmica anhidrótica: síndrome de Christ Siemens Touraine. Revista Científica Odontológica. 2010; 6 (1): 14-19.

  36. Wahlbuhl-Becker M, Faschingbauer F, Beckmann MW, Schneider H. Hypohidrotic ectodermal dysplasia: breastfeeding complications due to impaired breast development. Geburtshilfe Frauenheilkd. 2017; 77 (4): 377-382. doi: 10.1055/s-0043-100106. https://www.thieme-connect.com/DOI/DOI?10.1055/s-0043-100106.

  37. Bayliss MS. Otras Genodermatosis. En: Bolognia JL, Jorizzo JL, Rapini RP editores. Dermatología. Vol I. Editorial Elsevier, España SA. 2004, pp. 887-914.

  38. World Health Organization. Declaration of Helsinki. World Medical Association Declaration of Helsinki. Ethical principles for medical research involving human subjects. Bulletin of the World Health Organization 2001; 79: 373-374. Available in: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2566407/

  39. Kolenc-Fusé FJ. Agenesias dentarias: en busca de las alteraciones genéticas responsables de la falta de desarrollo. Med Oral Patol Oral Cir Bucal. 2004; 9: 385-395.

  40. Schneider H, Hammersen J, Preisler-Adams S, Huttner K, Rascher W, Bohring A. Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia. J Med Genet. 2011; 48: 426-432.

  41. Guillén-Navarro E, Ballesta-Martínez J, López-González V. Displasia ectodérmica hipohidrótica. Protoc diagn ter pediatr. 2010; 1: 13-17.

  42. Cambiaghi S, Restano L, Paakkonen K, Caputo R, Kere J. Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia. Arch Dermatol. 2000; 136: 217-224.

  43. Pieri-Silva K, García-Alpízar B, Castillo-Betancourt EE, De Armas-Ávila G. Opciones de tratamiento protésico en niños con oligodoncias por displasia ectodérmica hidrótica. Medisur. 2014; 12 (3): 501-509.

  44. Espinal GE, Ramírez LP, Sierra JI. Características dentales, cefalométricas y antropométricas en pacientes con displasia ectodérmica hipohidrótica. Rev Fac Odontol Univ Antioq. 2010; 22 (1): 50-62.

  45. Gregoriou S, Rigopoulus D, Vergou T, Korfitis C, Menegakis G, Kontochristopoulus G. Should we consider hypohidrotic ectodermal dysplasia as a possible risk factor for malignant melanoma? J Cutan Med Surg. 2007; 11: 188-190.




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