Hereditary ectodermal dysplasia and Lyon hypothesis
Keywords:
ectodermal dysplasia, anodontia, genetic.Abstract
Introduction: ectodermal dysplasia refers to disorders that promote dysplasia or aplasia structures and tissues derived from ectoderm. This condition is usually inherited by recessive pattern with lincagem cross, taking their frequency and severity more pronounced in men.
Objective: the aim was to report a case of Hereditary Ectodermal Dysplasia.
Case report: patient TVLV female, aged 25, leucoderma, which sought a private radiology service in the city of João Pessoa, Paraíba, Brazil. It was reported by the patient, his father, now deceased, was diagnosed with this syndrome. During the extraoral examination, there was dryness of the lips and eyes, skin darkening in the periocular region, hair thin and sparse. The patient did not reveal xerostomia or episodes of hyperthermia. There was loss of vertical dimension, prominent forehead and nails were normal. The clinical examination intrabucal, there was retention of 11 primary teeth and the absence of 19 permanent teeth. The partial oligodontia was then confirmed by radiographic examination. The partial expression of syndromic features can be explained by the Lyon hypothesis (X inactivation), with half of the X chromosomes of patients expressing normal genes and half the abnormal gene.
Conclusions: it was recommended genetic counseling and regular visits to the dentist. It´s fundamental the diagnosis of this disorder for the odontologist even in the cases of softening of signs and symptoms.
Downloads
Published
How to Cite
Issue
Section
License
Authors retain all rights to their works, which they can reproduce and distribute as long as they cite the primary source of publication.
The Rev Cubana Estomatol is subject to the Creative Commons Attribution-Non-Commercial 4.0 International License (CC BY-NC 4.0) and follows the publication model of SciELO Publishing Schema (SciELO PS) for publication in XML format.
You are free to:
- Share — copy and redistribute the material in any medium or format.
- Adapt — remix, transform, and build upon the material.
The licensor cannot revoke these freedoms as long as you follow the license terms.
Under the following terms:
Attribution — You must give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use.
- NonCommercial — You may not use the material for commercial purposes.
No additional restrictions — You may not apply legal terms or technological measures that legally restrict others from doing anything the license permits.
Notices:
- You do not have to comply with the license for elements of the material in the public domain or where your use is permitted by an applicable exception or limitation.
- No warranties are given. The license may not give you all of the permissions necessary for your intended use. For example, other rights such as publicity, privacy, or moral rights may limit how you use the material.
Download PDF
