Ectodermal dysplasia (DE) and its main characteristics

Carlos Alberto Pérez Padilla; Diego Francisco1 Pérez Villaroel; Domenica Fernanda Chuqui Guisha; María de los Ángeles Albán Ángulo

doi:10.59471/ijhsc202469

Authors

Carlos Alberto Pérez Padilla Universidad Regional Autónoma de Los Andes, Matriz Ambato, Ecuador. Author https://orcid.org/0000-0002-2873-9291
Diego Francisco1 Pérez Villaroel Universidad Regional Autónoma de Los Andes, Matriz Ambato, Ecuador. Author https://orcid.org/0009-0004-0898-7281
Domenica Fernanda Chuqui Guisha Universidad Regional Autónoma de Los Andes, Matriz Ambato, Ecuador. Author https://orcid.org/0009-0004-5026-3981
María de los Ángeles Albán Ángulo Universidad Regional Autónoma de Los Andes, Matriz Ambato, Ecuador. Author https://orcid.org/0009-0000-6139-9877

DOI:

https://doi.org/10.59471/ijhsc202469

Keywords:

ectodermal dysplasia (ED), disorder, tissues, case study

Abstract

Ectodermal dysplasia (ED) is a rare genetic disorder that affects the development of ectodermal tissues and includes organs of the body such as: skin, hair, nails, teeth, and sweat glands. Therefore, this condition can be seen from birth and has different levels of severity. In addition, it is known that there is one case for every 10,000 to 100,000 children born, making it essential to diagnose the dentist for alteration problems in any of the identified areas. The method to be included is a case study in a 5-month-old male patient, after DNA diagnosis and prenatal type to the second semester with skin biopsy, ED characteristics were identified. The results identified a 5-month-old male, born at 39 weeks and 3 days, with 3150 grams, height 49 centimeters, scaly lesions are observed on the skin throughout the body, marbled skin, mild pyelocalyceal ectasia, in addition to the absence of of hair, eyebrows and eyelashes, after the DNA test with prior informed consent, the existence of ED was confirmed. Finally, it is concluded that ED is a genetic disorder, as presented in the case study, and that the most common is dyshidrotic ectodermal dysplasia.

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