$Unique_ID{BRK03866} $Pretitle{} $Title{Ichthyosis, Erythrokeratodermia Variabilis} $Subject{Ichthyosis, Erythrokeratodermia Variabilis Disorder of Cornification 18 (Erythrokeratodermia Variabilis Type) DOC 18 (Erythrokeratodermia Variabilis Type) EKV Keratosis Rubra Figurata Mendes Da Costa Syndrome Ichthyosis Ichthyosis Congenita (Collodion Baby; Congenital Ichthyosiform Erythroderma; Xeroderma; Desquamation of Newborn) X-Linked Ichthyosis } $Volume{} $Log{} Copyright (C) 1988, 1989, 1990, 1992, 1993 National Organization for Rare Disorders, Inc. 559: Ichthyosis, Erythrokeratodermia Variabilis ** IMPORTANT ** It is possible that the main title of this article (Erythrokeratodermia Variabilis) 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 18 (Erythrokeratodermia Variabilis Type) DOC 18 (Erythrokeratodermia Variabilis Type) EKV Keratosis Rubra Figurata Mendes Da Costa Syndrome Information on the following disorders can be found in the Related Disorders section of this report: Ichthyosis Ichthyosis Congenita (Collodion Baby; Congenital Ichthyosiform Erythroderma; Xeroderma; Desquamation of Newborn) 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. Erythrokeratodermia Variabilis is a form of Ichthyosis, a group of hereditary skin disorders characterized by scaly patches on the skin. In this type of Ichthyosis, sharply defined red areas (erythemas) resemble a geographic map with a shifting configuration. Fixed hardened (keratotic) skin plaques independent of the red areas usually also develop. Skin lesions are localized in most cases, but may spread over the entire body surface. Symptoms Erythrokeratodermia Variabilis is characterized by red skin areas with sharp borderlines that tend to shift positions. Fixed plaques of hardened skin also develop independent from the red areas. The reddened skin areas may develop after exposure to heat, cold, wind, or emotional upset, and they may rapidly change shape or position. In most cases, hardened skin plaques are limited to small areas. However, they may appear over the entire body surface in some cases, including the palms of the hands and the soles of the feet. Causes Erythrokeratodermia Variabilis is a hereditary disorder transmitted by 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 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 Erythrokeratodermia Variabilis is a rare form of Ichthyosis which is present at birth. Males and females are affected in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Erythrokeratodermia Variabilis. Comparisons may be useful for a differential diagnosis: Ichthyosis is a general term describing a group of skin disorders that are characterized by an excessive accumulation of dead skin cells (squames) in the top layer of the skin. The conversion of an abnormally large number of skin 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. In general, all forms of Ichthyosis cause dry scaly skin. Ichthyosis Congenita (Collodion Baby; Congenital Ichthyosiform Erythroderma; Xeroderma; Desquamation of Newborn) 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 that affects 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: Ichthyosis Vulgaris; Epidermolytic Hyperkeratosis; Lamellar Recessive Ichthyosis; Lamellar Dominant Ichthyosis; Harlequin Type Ichthyosis; Ichthyosis Hystrix, Curth-Macklin Type; Netherton Syndrome; Sjogren-Larsson Syndrome; Refsum Syndrome; Chanarin-Dorfman Syndrome; Multiple Sulfatase Deficiency; Tay Syndrome; Keratitis Ichthyosis Deafness Syndrome (KID Syndrome); CHILD Syndrome; Conradi-Hunermann Syndrome; Erythrokeratodermia Variabilis; Erythrokeratolysis Hiemalis; Erythrokeratodermia Progressiva Symmetrica; Peeling Skin Syndrome; Darier Disease (Keratosis Follicularis); Giroux-Barbeau Syndrome; Keratosis Follicularis Spinulosa Decalvans. (Search under each name for more information on that disorder in the Rare Disease Database.) Therapies: Standard The scaly skin symptoms of Erythrokeratodermia Variabilis are 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 is 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 can be effective against symptoms of Erythrokeratodermia Variabilis, 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 the treatment of Erythrokeratodermia Variabilis. 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 Erythrokeratodermia Variabilis, 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 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 MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 238. ERYTHROKERATODERMIA VARIABILIS TREATED WITH ISOTRETINOIN. A CLINICAL, HISTOLOGIC, AND ULTRASTRUCTURAL STUDY: I.P. Rappaport, et al.; Arch Dermatol (April 1986: issue 122(4)). Pp. 441-445. PROGRESSIVE SYMMETRIC ERYTHROKERATODERMIA. HISTOLOGICAL AND ULTRASTRUCTURAL STUDY OF PATIENT BEFORE AND AFTER TREATMENT WITH ETRETINATE: V. Nazzaro, et al.; Arch Dermatol (April 1986: issue 122(4)). Pp. 434-440. ERYTHROKERATODERMIA VARIABILIS: IMMUNOHISTOCHEMICAL AND ULTRASTRUCTURAL STUDIES OF THE EPIDERMIS: N. McFadden, et al.; Acta Derm Venereol (Stockholm) (1987: issue 67(4)). Pp. 284-288. GENETICALLY TRANSMITTED, GENERALIZED DISORDERS OF CORNIFICATION. THE ICHTHYOSES: M.L. Williams, et al.; Dermatol Clin (January 1987: issue 5(1)). Pp. 155-178.