$Unique_ID{BRK04111} $Pretitle{} $Title{Pityriasis Rubra Pilaris} $Subject{Pityriasis Rubra Pilaris Devergie Disease Lichen Acuminatus Lichen Psoriasis Lichen Ruber Acuminatus Pityriasis Pilaris Lichen Planus Pityriasis Rosea Psoriasis} $Volume{} $Log{} Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 475: Pityriasis Rubra Pilaris ** IMPORTANT ** It is possible the main title of the article (Pityriasis Rubra Pilaris) 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 Devergie Disease Lichen Acuminatus Lichen Psoriasis Lichen Ruber Acuminatus Pityriasis Pilaris Information on the following disorders may be found in the Related Disorders section of this report: Lichen Planus Pityriasis Rosea Psoriasis General Discussion ** IMPORTANT ** 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. Pityriasis Rubra Pilaris is a mildly itchy chronic skin disorder which is possibly caused by an inherited metabolic defect. Initially, the disorder is characterized by elevated spots (papules) on the skin. These spots grow and become connected, producing red plaques over large areas. Symptoms Pityriasis Rubra Pilaris is initially characterized by skin lesions described as mildly itchy, sharply pointed, horn-like, brownish-red to rosy yellow- colored papules. These papules usually occur on the back of the wrists, the outside of the forearms, underarm folds, elbows, knees, backs of the hands, and fingers. When the papules grow and connect together they produce dry, scaly, rough, red plaques over large areas of the skin. Gray, brittle nails and excessive oiliness of the glands on the scalp (seborrhea) and face may also occur. Often the edge of the eyelids are turned outward (ectropion). Causes Pityriasis Rubra Pilaris is suspected to be a hereditary disorder transmitted as a autosomal dominant trait. Symptoms may be triggered by a metabolic defect. An acquired form of the disease also exists which may be caused by a deficiency of vitamin-A. (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 Pityriasis Rubra Pilaris is a rare disorder which affects children and adults. Males and females are affected in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Pityriasis Rubra Pilaris. Comparisons may be useful for a differential diagnosis: Lichen Planus is a recurrent, itchy, inflammatory eruption characterized by small separate, angular spots that may combine into rough scaly patches. It is often accompanied by lesions in the mouth. Women are most commonly affected, although some cases have begun during childhood. The exact cause of this disorder is unknown, though some minerals such as bismuth, arsenic, gold, or exposure to certain chemicals used in developing color photographs may cause an eruption indistinguishable from Lichen Planus. (For more information on this disorder, choose "Lichen Planus" as your search term in the Rare Disease Database.) Pityriasis Rosea is a self-limited, mild, inflammatory skin disorder characterized by scaly lesions found most commonly on the trunk. The disorder is possibly due to an unidentified infectious agent. It may occur at any age but is seen most frequently in young adults. In temperate climates, incidence is highest during spring and autumn. Psoriasis is a common chronic and recurrent skin disorder characterized by dry, well-circumscribed silvery gray scaling spots (papules) or plaques on the scalp, elbows, knees and/or the buttocks. (For more information on this disorder, choose "Psoriasis" as your search term in the Rare Disease Database.) Therapies: Standard Pityriasis Rubra Pilaris may respond to treatment with vitamin-A, either orally or in alcohol as an ointment. Retinoid drugs such as isotretinoin which are chemically related to vitamin A, and the antineoplastic drug methotrexate may also be prescribed. The lesions often get better or worse without treatment, waxing and waning naturally. DDAVP in the injectable form is standard treatment for von Willebrand Disease. It is an antidiuretic peptide manufactured by Rorer Pharmaceuticals. Therapies: Investigational Research on Pityriasis Rubis Pilaris is being conducted at New York University Medical Center. For information about this research, please contact: Irwin M. Freedberg, M.D. NYU Medical Center Dept. of Dermatology 550 First Ave. New York, NY 10016 (212) 340-5245 This disease entry is based upon medical information available through January 1990. 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 Pityriasis Rubra Pilaris, 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 20921 Raleigh, NC 27619-0921 (919) 782-5728 (800) 545-3286 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 CHILDHOOD-ONSET PITYRIASIS RUBRA PILARIS WITH IMMUNOLOGIC ABNORMALITIES: D. Shvili, et al.; Pediatr Dermatol (May 1987: issue 4(1)). Pp. 21-23. PITYRIASIS RUBRA PILARIS, VITAMIN A AND RETINOL-BINDING PROTEIN: A CASE STUDY: P.C. van Voorst Vader, et al.; Acta Derm Venereol (Stockholm) (1984: issue 64(5)). Pp. 430-432. ISOTRETINOIN TREATMENT OF PITYRIASIS RUBRA PILARIS: C.H. Dicken; Journal Am Acad Dermatol (February 1987: issue 16(2 Part 1)). Pp. 297-301.