Darier's disease: a kindred with a large number of cases

Over 70 cases of keratosis follicularis (Darier's disease) were noted in a study of a single kindred consisting of more than 200 individuals. Data were obtained through questionnaires, interviews and physical examinations. Results strongly support an autosomal dominant mode of inheritance since the ratio of affected to unaffected members was I:I and there were nearly equal numbers of males and females with this condition. Large sibships were common in this kindred, which extended over seven generations, and most of the affected individuals were located in the southwestern New York-northwestern Pennsylvania region of the United States.