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

Abstract

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.

Localization of the Gene for Darier Disease to a 5-cM Interval on Chromosome 12q

“…Subjects Families with members affected by Darier disease were identified through past publications [9], through records of dermatology clinics, and through notices in dermatology journals. Of the kindreds studied, three were from the southern tier of New York State (DD-Ba, He, Le), one from Kansas (DD-As), one from scattered sites in the United States (DD-Sc), two from France (DD-Be, DD-Pi), and three from Israel (DD-Ia, DD-Ib, DD-Ic).…”

Darier's (Darier–White) disease/keratosis follicularis

“…Furthermore, there is no evidence for X‐linked or autosomal recessive traits of the entity 25 . The occurrence of malignancy is unusual, and has not been recorded, except in isolated instances; 60–65 however, knockout mice (mixed 12a/Svj of black Swiss background), heterozygous for a SERCA‐2 null mutation, developed spontaneous squamous cell carcinoma in the digestive tract, oral mucosa, and skin, 66 which requires further study.…”

Genetic linkage for Darier disease (keratosis follicularis)

“…Darier disease (keratosis follicularis) is an autosomal dominant genodermatosis with complete penetrance and variable expressivity [Beck et al, 1977;Munro, 1992;Burge and Wilkinson, 19921. It is worldwide in distribution, with a prevalence ranging from 1 in 55,000 [Wilkinson et al, 19771 to 1 in 100,000 [Svend-sen and Albrectsen, 19591.…”