$Unique_ID{BRK03862} $Pretitle{} $Title{Ichthyosis Vulgaris} $Subject{Ichthyosis Vulgaris Disorder of Cornification 1 DOC 1 Ichthyosis Simplex Vulgaris Type Ichthyosis Vulgaris Type Disorder of Cornification Ichthyosis Ichthyosis Congenita (Collodion Baby; Congenital Ichthyosiform Erythroderma; Xeroderma; Desquamation of Newborn) X-Linked Ichthyosis } $Volume{} $Log{} Copyright (C) 1988, 1989, 1991, 1992, 1993 National Organization for Rare Disorders, Inc. 543: Ichthyosis Vulgaris ** IMPORTANT ** It is possible the main title of the article (Ichthyosis Vulgaris) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Disorder of Cornification 1 DOC 1 Ichthyosis Simplex Vulgaris Type Ichthyosis Vulgaris Type Disorder of Cornification 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 personal physician and/or the agencies listed in the "Resources" section of this report. Ichthyosis Vulgaris is an inherited skin disorder characterized by cornification of the skin. Scaly or platelike (squamous) skin forms instead of the normal smooth top layer of the skin. Fine scales usually develop on the patient's back and over muscles near a joint such as an elbow or a knee (extensor muscles). Symptoms Ichthyosis Vulgaris is a skin disorder which begins during the first year of life, although it is not usually present at birth. Symptoms in different patients vary in severity, from mild to severe. A skin allergy or eczema (atopic dermatitis) may accompany other symptoms in approximately half of patients with this disorder. All features of this disorder are restricted to the skin. Unusual marks on the palms of the hands and the soles of the feet may be pronounced. These marks may be a sign of mild overdevelopment of the outer layer of the skin (hyperkeratosis). Scaly or platelike (squamous) skin appears on the back and over areas of muscle near a joint such as an elbow or a knee (extensor muscles). The disorder tends to improve with age. Symptoms can also improve in certain climates or during different seasons of the year. Causes Ichthyosis Vulgaris is an inherited disorder transmitted through autosomal dominant inheritance. (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 Ichthyosis Vulgaris is a fairly common disorder that affects approximately one out of 250 persons in the United States. Males and females are affected in equal numbers. There are about 4,000 per million or 1,000,000 persons with Ichthyosis Vulgaris. 14,924 children are born every year in the United States with this type of Ichthyosis. Related Disorders Symptoms of the following disorders may be similar to those of Ichthyosis Vulgaris. Comparisons can be useful for a differential diagnosis: "Ichthyoses" 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 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 the 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 caused by a deficiency in the enzyme steroid sulfatase. This enzyme deficiency leads to several biochemical alterations in steroid hormone metabolism. Cholesterol sulfate may accumulate in the blood and skin. Corneal opacities are present, but they do not impair vision. (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, Epidermolytic Hyperkeratosis, etc. (Search under each name for more information on that disorder in the Rare Disease Database.) Therapies: Standard Ichthyosis Vulgaris 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 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 also be effective against symptoms of Ichthyosis Vulgaris, 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 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 Ichythyosis Vulgaris. 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 Ichthyosis Vulgaris, 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 20291 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 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.