母娘に認められた遺伝性外胚葉異形成症

概要

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Hereditary ectodermal dysplasia in the daughter and her mother indicated that they complained of partial anodontias.<BR>They showed a reduction of scalp hairs, almost complete absence of eyebrows and eyelashes. Sweating was apparent, though there was a reduction of sweat pores. Partial anodontias was present in both deciduous and permanent teeth.<BR>The authors diagnosed it as the anhidrotic (hypohidrotic) type of hereditary ectodermal dysplasia. This syndrome is inherited through an X-linked recessive gene and affected males. Females are reportedly always carriers. It is considered rare that female carriers are affected severely.<BR>The authors think it is interesting that only carriers in the family showed clinical symptoms of the anhidrotic type of hereditary ectodermal dysplasia.
社団法人日本口腔外科学会の論文