A novel c.916C>A EDA gene pathogenic variant in a boy with X-linked hypohidrotic ectodermal dysplasia.

A 17-month old boy was referred to the genetic clinic in view of anodontia, hypohidrosis, scalp hypotrichosis, atrichia of the eyelashes, xerotic skin and a short columella. A diagnosis of X-Linked hypohidrotic ectodermal dysplasia (XLHED) was considered. The boy was born to healthy non-consanguineous parents of Maltese-Caucasian ethnicity at 38 weeks by emergency lower segment Caesarean section in view of fetal decelerations in the setting of documented intrauterine growth restriction (birth weight was 2.49kg [2.5th centile for age]). The genetic family history of the patient was unremarkable.