One case of neonatal congenital ectodermal dysplasia
Abstract：A 29 days old neonate with dry skin, membrane-like body molt, sparse yellow hair, hypohidrosis and recurrent fever, was diagnosed as hypohidrotic ectodermal dysplasia (HED). The skin biopsy showed no skin adnexal dermis. The gene detection showed a missense mutation (c.463C>T) in the ectodysplasin-A (EDA) gene. Ectodermal dysplasia is a rare hereditary disorder affecting the development or function of the teeth, hair, nails and sweat glands. HED patient showed heat intolerance and hyperthermia because of abnormal perspiration. If one neonate with characteristic physiognomy endures chronic fever, and infection excluded, we should pay attention to execute relational examinations to obtain early diagnosis.
Keywords：Ectodermal dysplasianeonatalLiterature review
Publication Date：2015-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：3( 260-262 )