$Unique_ID{BRK03649} $Pretitle{} $Title{Darier Disease} $Subject{Darier Disease Dyskeratosis Follicularis Vegetans Keratosis Follicularis Psorospermosis Follicularis White-Darier Disease Acrokeratosis Verruciformis of Hopf Hyperkeratosis Follicularis in Cutem Penetrans (Kyrle Disease) Keratosis Pilaris (Follicular Ichthyosis) Psoriasis} $Volume{} $Log{} Copyright (C) 1987, 1990, 1991 National Organization for Rare Disorders, Inc. 485: Darier Disease ** IMPORTANT ** It is possible the main title of the article (Darier Disease) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Dyskeratosis Follicularis Vegetans Keratosis Follicularis Psorospermosis Follicularis White-Darier Disease Information on the following disorders can be found in the Related Disorders section of this report: Acrokeratosis Verruciformis of Hopf Hyperkeratosis Follicularis in Cutem Penetrans (Kyrle Disease) Keratosis Pilaris (Follicular Ichthyosis) Psoriasis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Darier Disease is a gradually progressive, hereditary skin disorder. It is characterized by elevated spots (papules) on the scalp, forehead, face, neck, area behind the ears, and middle of the back. Symptoms Darier Disease usually begins without apparent symptoms. Gradually, burning and itching skin occurs. Firm spots (papules) become larger and darker, and may be covered with gray/brown scales or crusts. These spots may increase in size and grow together into patches. The disorder is gradually progressive, and tends to become more severe with exposure to sunshine and/or emotional stress. Symptoms may improve during the winter. Causes Darier Disease is a dominant hereditary disorder. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Darier Disease usually begins during childhood, but it may appear as late as the 7th decade of life. Males are affected in greater numbers than females. In Denmark the incidence of this disorder is estimated at 1 in 10,000 persons. In the United States, Darier Disease affects about 1 in 50,000 persons or 20 per million. There are a total of 5,000 affected by the disease and seventy-five births of babies with Darier Disease occur annually. Related Disorders Acrokeratosis Verruciformis of Hopf is a dominant hereditary skin disorder which tends to occur in members of families affected by dermatological conditions characterized by hardened skin. Symptoms of the disorder include flat-topped or slightly convex, smooth, firm, elevated spots (papules) usually distributed symmetrically on the back of both hands, feet, wrists and/or ankles. Spots may be few or numerous; they may range in size from 1/16 to 1/4 inch. Spots are mostly flesh-colored, some are light brown. The palms of the hands and the soles of the feet may be hardened (hyperkeratotic). Nails are opaque and brittle. Hyperkeratosis Follicularis in Cutem Penetrans (Kyrle Disease) is a rare skin disease occurring mostly in female adults. It is characterized by painful, scattered eruptions with horn-like cone-shaped plugs. Usually only the extremities, buttocks and cheeks are involved. Keratosis Pilaris (Follicular Ichthyosis) is a common skin disorder occurring during adolescence. It is characterized by mild redness of the skin with elevated hardened spots (keratotic papules) in irregular distribution, and the appearance of gooseflesh, especially on thighs and arms. (To locate information about other types of Ichthyosis, choose "Ichthyosis" as your search term in the Rare Disease Database.) Psoriasis is a common chronic and recurrent skin disease characterized by dry, well circumscribed, silvery, scaling elevated spots (papules) and plaques of various sizes. Psoriasis varies in severity from mild to severe. (For more information on this disorder, choose "Psoriasis" as your search term in the Rare Disease Database.) Therapies: Standard Darier Disease can be diagnosed from examination of nail tissue. The disorder is usually treated with the aromatic retinoid drug etretinate. Surgical removal of foreign and dead tissue from the lesions (debridement) may also be helpful. Therapies: Investigational This disease entry is based upon medical information available through March 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Darier Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Foundation for Ichthyosis and Related Skin Types (F.I.R.S.T.) P.O. Box 410453 San Francisco, CA 94103 (415) 591-1653 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References GENETICALLY TRANSMITTED, GENERALIZED DISORDERS OF CORNIFICATION: THE ICHTHYOSES: M.L. Williams, et al.; Dermatologic Clinics (January 1987: issue 5(1)). Pp. 173-175. ETRETINATE: EFFECT OF MILK INTAKE ON ABSORPTION: J.J. DiGiovanna, et al.; Journal Invest Dermatol (June 1984: issue 82(6)). Pp. 636-640. THE SURGICAL TREATMENT OF HYPERTROPHIC DARIER'S DISEASE: R.G. Wheeland, et al.; Journal Dermatol Surg Oncol (April 1985: issue 11(4)). Pp. 420-423.