Early suspicion of anhidrotic ectodermal dysplasia. Report of a clinical case
Keywords:
Ectodermal dysplasia; ectodermal dysplasia 1 anhidrotic; christ-siemens-touraine syndrome; anodontia, hypodontia; geneticsAbstract
Background: Ectodermal dysplasias are a heterogeneous group of rare genetic disorders; it is estimated that 7 out of every 10,000 live births are affected. This is characterized by alterations in the ectoderm, resulting in phenotypic manifestations present from birth, including hypohidrosis, sparse body hair, and various dental abnormalities.
Objective: To report the case of a patient with suspected ectodermal dysplasia from birth, as well as the early diagnosis.
Clinical case report: A 2-year-old male patient who has been periodically attending at the Genetics clinic with a clinical diagnosis of anhidrotic ectodermal dysplasia. He was born at 38 weeks of gestation via vaginal delivery, weighing 2980 g, with a length of 51 cm and Apgar scores of 8 and 9. He was observed to have absent eyebrows, eyelashes, and scalp hair from birth, as well as hypohidrosis and dry, thin skin, a consultation with a Clinical Genetics specialist was conducted, and a timely clinical diagnosis was established.
Conclusions: It was considered that early clinical suspicion is of great value for the establishment of a timely diagnosis, with multidisciplinary follow-up that facilitated improving the quality of life of the patient and achieving adequate school and social integration. The therapeutic intervention of Orthodontics was decisive, as well as the skin care with permanent monitoring to avoid complications. Genetic counseling was also provided, which allowed for a better understanding of the family.
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