uncombable hair syndrome
MIM.191480
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pili trianguli et canaliculi
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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