2022, Number 1
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Folia 2022; 16 (1)
Hypohidrotic ectodermal dysplasia
Nieto JAI
Language: Spanish
References: 10
Page:
PDF size: 296.67 Kb.
ABSTRACT
Christ-Siemens-Touraine syndrome or hypohidrotic ectodermal dysplasia is a rare familial inherited congenital syndrome, which affects males in 90% of cases. The case of a 44-year-old male patient was reported. He is self-employed, treated in March 2019 at the Dermatology service of Villa Clara province, Cuba, for showing dry skin, decreased body hair and scant sweating, even when intense physical exercising. These symptoms were reported from approximately 10 years of age. A diagnosis of hypohidrotic ectodermal dysplasia was proposed, which was confirmed by skin biopsy. The interesting fact of this case lies in the importance of knowing the clinical characteristics of this entity, in order to achieve a firm diagnosis from the pediatric age to avoid complications and inadequate therapeutics in adults.
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