$Unique_ID{BRK03871} $Pretitle{} $Title{Ichthyosis, Lamellar Recessive} $Subject{Ichthyosis, Lamellar Recessive Disorder of Cornification 4 DOC 4 (Lamellar Recessive Type) Ichthyosis Ichthyosis Congenita (Collodion Baby; Congenital Ichthyosiform Erythroderma; Xeroderma) X-Linked Ichthyosis Sjogren Larsson Syndrome } $Volume{} $Log{} Copyright (C) 1988, 1989, 1991, 1992, 1993 National Organization for Rare Disorders, Inc. 544: Ichthyosis, Lamellar Recessive ** IMPORTANT ** It is possible the main title of the article (Lamellar Recessive Ichthyosis) 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 4 DOC 4 (Lamellar Recessive Type) 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) X-Linked Ichthyosis Sjogren Larsson Syndrome 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. Lamellar Recessive Ichthyosis is a serious skin disorder. Cornification, which is the conversion of the upper layer of the skin into scaly or platelike (squamous) type skin, is the major symptom. The entire body surface is involved, with large, dark, platelike scales. In serious cases, the eyelids and the lips may turn outward (ectropion). Symptoms Lamellar Recessive Ichthyosis is a serious skin disorder characterized by large, dark, platelike scales (cornification) over the entire body surface. The eyelids and lips are turned outward in the most serious cases. A slight redness (erythroderma) underlies the scales. Moderate thickening of the outer skin layer (keratoderma) on the palms of the hands and the soles of the feet usually also occurs. The appearance of a newborn with Lamellar Recessive Ichthyosis is similar to that of Ichthyosis Congenita. Analysis of fats (lipids) from the stratum corneum of the skin shows increased free sterols and ceramides but normal hydrocarbon (alkane) content. Causes Lamellar Recessive Ichthyosis is a hereditary disorder transmitted through autosomal recessive 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 recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Lamellar Recessive Ichthyosis is a very rare disorder occuring in less than one out of every 200,000 persons or five per million in the United States. There are about 1,250 persons with the disorder, and nineteen babies are born annually with this disorder. Related Disorders Symptoms of the following disorders may be similar to those of Lamellar Recessive Ichthyosis. 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 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 caused by a deficiency of the enzyme steroid sulfatase. This enzyme deficiency leads to biochemical alterations in steroid hormone metabolism. (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. (Search under each name for more information on that disorder in the Rare Disease Database. Therapies: Standard Lamellar Recessive Ichthyosis 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 Lamellar Ichthyosis, 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 Lamellar Recessive Ichthyosis. The product is manufactured by: Cellegy Pharmaceuticals 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 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 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.