Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Christianson and Fourie (1996) described an Afrikaner family in which 6 persons in 3 generations showed an association of hair and nail defects. The proband had short, thin, sparse, pale scalp hair; her eyebrows were absent, and her eyelashes were short and sparse. There was almost no hair in her axillae and pubic area. Her nails were dystrophic and thickened; the distal half of the nail was not attached to the nail bed, resulting in a gap between the center of the free edge and the nail bed. Her sweating, skin, and teeth were normal. Similar manifestations, but varying in their severity, were found in her brother, mother, grandfather, aunt, and first cousin. The proband and her aunt had episodes of supraventricular tachycardia, and the proband's brother and mother had bradycardia. Christianson and Fourie (1996) suggested that this association is a 'new' autosomal dominant type of ectodermal dysplasia, involving hair and nails. The absence of skin defects distinguishes this form from Clouston syndrome (129500).