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.
Ellis
S G
SG
Ahmed
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D000848:Anodontia / Q000209:etiology*; D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D005260:Female; D006801:Humans; D010375:Pedigree