A new syndrome in the group of euhidrotic ectodermal dysplasia. Pilodental dysplasia with refractive errors.
A new form of ectodermal dysplasia was observed in two siblings, offspring of healthy non-consanguineous parents. The main findings in both children are: hypodontia, abnormally shaped teeth, scalp hypotrichosis, pili annulati, follicular hyperkeratosis on the trunk and limbs, intensified delineation and reticular hyperpigmentation of the nape, and hyperopia; one of the siblings also has astigmatism. As both patients have normal nails and are euhidrotic, this is an ectodermal dysplasia of the pilodental subgroup. The cause is probably genetic and autosomal-recessive inheritance is most likely.
D002648:Child; D004476:Ectodermal Dysplasia / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006197:Hair / Q000473:pathology; D006801:Humans; D006956:Hyperopia / Q000235:genetics; D008297:Male; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics