Hypohydrotic ectodermal dysplasia affecting a female patient

Ectodermal dysplasia syndromes are extremely rare. Hypohydrotic Ectodermal Dysplasia (HED) is classically an X-linked recessive condition affecting males, although a clinically identical autosomal recessive form of this condition has been described. The patient described in this article is female, who was initially thought to be a manifesting carrier for X-linked HED. However, the pedigree and examination of other family members suggest that she has the rarer autosomal recessive form. The patient is also edentulous and requires complete dentures, a concept regarded by many as a novelty in young children.