Oral and cephalometric characteristics of hypohidrotic ectodermal dysplasia: Case report

Autores/as

  • Marco A. Sánchez-Tito Faculty of Health Sciences, Private University of Tacna, Tacna, Peru

DOI:

https://doi.org/10.20453/reh.v32i1.4186

Palabras clave:

Displasia ectodérmica hipohidrótica, cefalometría, desarrollo maxilofacial

Resumen

Hypohydrotic ectodermal dysplasia (HED) is a genetic disorder that affects the development of ectodermal tissues. This study reports a case of a 5-year-old male patient, with clinical extra and intraoral characteristics of HED. The intraoral clinical examination revealed a generalized absence of teeth, panoramic radiograph revealed the presence of permanent first molars with taurodontism, and confirm the oligodontia. Cephalometric analysis revealed a class III skeletal relationship, due to deficiency in the sagittal development of the maxilla and an anti-clockwise growth tendency. Alterations in craniofacial development require multidisciplinary treatment and long-term follow-up to monitor craniofacial growth.

Citas

Clauss F, Chassaing N, Smahi A, et al. X-linked and autosomal recessive hypohidrotic ectodermal dysplasia: genotypic-dental phenotypic findings. Clin Genet. 2010;78:257-66.

Ma X, Lv X, Liu HY, et al. Genetic diagnosis for X-linked hypohidrotic ectodermal dysplasia family with a novel Ectodysplasin A gene mutation. J Clin Lab Anal. 2018; 32: e22593.

Wohlfart S, Meiller R, Hammersen J, et al. Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study. Orphanet J Rare Dis. 2020;15:7.

Kumar A, Thomas P, Muthu T, Mathayoth M. Christ- Siemens-Touraine Syndrome: A rare case report. J Pharm Bioallied Sci. 2019;11:102-104.

Wright JT, Fete M, Schneider H, et al. Ectodermal dysplasias: classification and organization by phenotype, genotype and molecular pathway. Am J Med Genet A. 2019; 179:442-447.

Baskan Z, Yavuz I, Ulku R, et al. Evaluation of ectodermal dysplasia. Kaohsiung J Med Sci. 2006;22: 171-6.

Doğan MS, Callea M, Yavuz Ì, Aksoy O, Clarich G, Günay A. An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia cases. Med Oral Patol Oral Cir Bucal. 2015;20:e340-6.

Bergendal B, Norderyd J, Zhou X, Klar J, Dahl N. Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency. BMC Med Genet. 2016;17:88.

Gomes MF, Sichi LGB, Giannasi LC, et al. Phenotypic features and salivary parameters in patients with ectodermal dysplasia: report of three cases. Case Rep Dent. 2018; 2018: 2409212.

AlNuaimi R, Mansoor M. Prosthetic rehabilitation with fixed prosthesis of a 5-year-old child with hypohidrotic ectodermal dysplasia and oligodontia: a case report. J Med Case Rep. 2019;13:329.

Luo E, Liu H, Zhao Q, Shi B, Chen Q. Dental- craniofacial manifestation and treatment of rare diseases. Int J Oral Sci. 2019;11:9.

Çolak M. An Evaluation of bone mineral density using cone beam computed tomography in patients with ectodermal dysplasia: A retrospective study at a single center in Turkey. Med Sci Monit. 2019;25:3503-3509.

Hanisch M, Sielker S, Jung S, Kleinheinz J, Bohner L. Self-assessment of oral health-related quality of life in people with ectodermal dysplasia in Germany. Int J Environ Res Public Health. 2019;16:1933

Descargas

Publicado

2022-04-22

Cómo citar

1.
Sánchez-Tito MA. Oral and cephalometric characteristics of hypohidrotic ectodermal dysplasia: Case report. Rev Estomatol Herediana. [Internet]. 22 de abril de 2022 [citado 19 de abril de 2024];32(1):74-8. Disponible en: https://revistas.upch.edu.pe/index.php/REH/article/view/4186

Número

Sección

REPORTES DE CASO