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uncombable hair syndrome

MIM.191480

Tuesday 23 November 2004

Clinical:

Wildy disorderly hair that resists all efforts to combing. The abnormality appears usually between 3 months and 12 years of age. The hair is often silvery blond in color. The mode of inheritance is probably autosomal dominant

Histology:

Well defined longitudinal depression or canal creating triangular shaped hair shaft

Associations

- ectodermal dysplasia with congenital hypotrichosis and uncombable hair, associated with juvenile cataracts, retinal pigmentary dystrophy, oligodontia, and brachymetacarpy (MIM.191482)

- anhidrotic ectodermal dysplasia with cleft lip and cleft palate (Rapp-Hodgkin syndrome) (MIM.129400)


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