Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study.

ABSTRACT:

Background

X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by pathogenic variants of the gene EDA disrupting the prenatal development of ectodermal derivatives. Cardinal symptoms are hypotrichosis, lack of teeth, and hypo- or anhidrosis, but the disease may also evoke other clinical problems. This study aimed at investigating the clinical course of XLHED in early childhood as the basis for an evaluation of the efficacy of potential treatments.

Methods

25 children (19 boys and 6 girls between 11 and 35 months of age) with genetically confirmed XLHED were enrolled in a long-term natural history study. Clinical data were collected both retrospectively using parent questionnaires and medical records (pregnancy, birth, infancy) and prospectively until the age of 60 m

SUBMITTER: Wohlfart S 

PROVIDER: S-EPMC6954509 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature