$Unique_ID{BRK03867} $Pretitle{} $Title{Ichthyosis, Erythrokeratolysis Hiemalis} $Subject{Ichthyosis, Erythrokeratolysis Hiemalis Disorder of Cornification 19 (Erythrokeratolysis Hiemalis) DOC 19 (Erythrokeratolysis Hiemalis) Keratolytic Winter Erythema Oudtshoorn Skin Ichthyosis Ichthyosis Congenita X-Linked Ichthyosis } $Volume{} $Log{} Copyright (C) 1988, 1989, 1991, 1992, 1993 National Organization for Rare Disorders, Inc. 558: Ichthyosis, Erythrokeratolysis Hiemalis ** IMPORTANT ** It is possible that the main title of this article (Erythrokeratolysis Hiemalis) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article. Synonyms Disorder of Cornification 19 (Erythrokeratolysis Hiemalis) DOC 19 (Erythrokeratolysis Hiemalis) Keratolytic Winter Erythema Oudtshoorn Skin Information on the following disorders can be found in the Related Disorders section of this report: Ichthyosis Ichthyosis Congenita X-Linked Ichthyosis 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 physician and/or the agencies listed in the "Resources" section of this report. Erythrokeratolysis Hiemalis is a form of Ichthyosis which is a group of hereditary skin disorders. This condition is characterized by periodic attacks of red (erythematous) plaques that are distributed equally on both sides of the body. A layer of skin can be peeled from these plaques. Symptoms usually improve with age. Symptoms Erythrokeratolysis Hiemalis is characterized by periodic attacks of red skin plaques. A thick layer of skin can be peeled off these plaques from the center outward. As new skin forms, the plaques are pushed outward. Symptoms may start during infancy or adolescence, and the disorder usually improves with age. Only the palms of the hands and the soles of the feet are involved in most cases. However, the disorder may spread to the skin of the back or elsewhere on the body surface. Appearance of new plaques may be precipitated by fever or surgery. Causes Erythrokeratolysis Hiemalis is a hereditary disorder transmitted through autosomal dominant genes. (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 other 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 Erythrokeratolysis Hiemalis primarily affects descendants of farmers from the Oudtshoorn district in South Africa. This disorder starts during infancy or adolescence and usually improves with age. It affects males and females in equal numbers. One in every 100,000 persons will be affected, that is, ten per million for a total of 2,500 persons in the United States with thirty- seven babies born with this disorder every year. Related Disorders Symptoms of the following disorders may be similar to those of Erythrokeratolysis Hiemalis. Comparisons can be useful for a differential diagnosis: "Ichthyosis" or "Disorders of Cornification" are general terms describing a group of scaly skin disorders. They are characterized by an abnormal accumulation of large amounts of dead skin cells (squames) in the top layer of the skin. The conversion of an abnormally large number of epidermal cells into squamous cells is thought to be caused by a defect in the metabolism of skin cells known as "corneocytes" or of the fat-rich matrix around these cells. The cells can be thought of as bricks, while the matrix would be the mortar holding these cells together. (For more information, choose "Ichthyosis" as your search term in the Rare Disease Database.) Ichthyosis Congenita (Collodion Baby; Congenital Ichthyosiform Erythroderma; Xeroderma; Desquamation of Newborn) is an inherited skin disorder. It is characterized by generalized, abnormally red, dry and rough skin, with large, coarse scales. Itchiness (pruritus) usually also develops. Skin on the palms of the hands and soles of the feet is abnormally thick. (For more information, choose "Ichthyosis Congenita" as your search term in the Rare Disease Database.) X-Linked Ichthyosis is an inherited skin disorder affecting males. It is caused by a deficiency of the enzyme steroid sulfatase. This enzyme deficiency leads to biochemical alterations in steroid hormone metabolism. Cholesterol sulfate may accumulate in the blood and skin. (For more information, choose "X-Linked Ichthyosis" as your search term in the Rare Disease Database.) Other forms of Ichthyosis include Sjogren-Larsson Syndrome, Netherton Syndrome, Ichthyosis Hystrix, Lamellar Ichthyosis, Refsum Syndrome, Darier Disease, Conradi-Hunermann Syndrome, Chanarin-Dorfman Syndrome, and Epidermolytic Hyperkeratosis. (Choose the appropriate name as your search term for more information on that disorder in the Rare Disease Database.) Therapies: Standard Erythrokeratolysis Hiemalis is treated by applying skin softening (emollient) ointments, preferably plain petroleum jelly. This can be especially effective after bathing while the skin is still moist. Salicylic acid gel can be another particularly effective ointment. The skin should be covered at night with an airtight, waterproof dressing when this ointment is used. Lactate lotion can also be an effective treatment for this disorder. Therapies: Investigational Drugs derived from Vitamin A (retinoids) such as tretinoin, motretinide, and etretinate may be effective against symptoms of Erythrokeratolysis Hiemalis, but can cause toxic effects on the bones in some cases. A synthetic derivative of Vitamin A, isotretinoin, when taken by pregnant women, can cause severe birth defects to the fetus. These Vitamin A compounds have not yet been approved by the Food and Drug Administration (FDA) for treatment of Ichthyosis. The National Institute of Arthritis, Musculoskeletal and Skin Diseases is looking for patients with various kinds of Ichthyosis willing to participate in research aimed at mapping the genes responsible for their disorder. Interested persons may contact: Dr. Sherri Bale National Institute of Arthritis, Musculoskeletal and Skin Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 402-2679 The orphan product Monolaurin (Glylorin) is being tested for treatment of Erythrokeratolysis Hiemalis. The product is manufactured by: Cellegy Pharmaceuticals, Inc. 371 Bel Marin Keys, Suite 210 Novato, CA 94949 This disease entry is based upon medical information available through May 1993. 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 Erythrokeratolysis Hiemalis, 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, Inc. (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 (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For information on genetics and genetic counseling: Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 References GENETICALLY TRANSMITTED, GENERALIZED DISORDERS OF CORNIFICATION. THE ICHTHYOSES: M.L. Williams, et al.; Dermatol Clin (January 1987: issue 5(1)). Pp. 155-178. THERAPEUTIC ACTIVITY OF LACTATE 12% LOTION IN THE TREATMENT OF ICHTHYOSIS. ACTIVE VERSUS VEHICLE AND ACTIVE VERSUS A PETROLEUM CREAM: M. Buxman, et al.; Journal Am Acad Dermatol (December 1986: issue 15(6)). Pp. 1253-1258. THE METABOLIC BASIS OF INHERITED DISEASE, 5th ed.: John B. Stanbury, et al., eds.; McGraw Hill, 1983. Pp. 1027-1039.