[Keratosis follicularis spinulosa decalvans and amino-aciduria (author's transl)].
A new case of keratosis follicularis spinulosa decalvans (Siemens, 1925) in a 12 1/2 year old boy is related. This X-dominant inherited disturbance of follicular keratinization is associated with an amino-aciduria in the propositus and his mother, especially an increase of aspartic acid in urin and blood. The scarring infundibular plugs are constituted by nucleated keratin, which brightened up in polarized light and seems to be of internal trichilemmal origin.
D001224:Aspartic Acid / Q000097:blood / Q000652:urine*; D002648:Child; D007644:Darier Disease / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D008297:Male; D000608:Renal Aminoacidurias / Q000378:metabolism*
D001224:Aspartic Acid
Keratosis follicularis spinulosa decalvans et amino-acidurie.