$Unique_ID{BRK03874} $Pretitle{} $Title{Ichthyosis, Sjogren Larsson Syndrome} $Subject{Ichthyosis, Sjogren Larsson Syndrome DOC 10 (Sjogren-Larsson Type) Disorder of Cornification 10 (Sjogren-Larsson Type) Ichthyosis, Spastic Neurologic Disorder, Oligophrenia SLS Ichthyosis Ichthyosis Congenita X-Linked Ichthyosis } $Volume{} $Log{} Copyright (C) 1988, 1989, 1992, 1993 National Organization for Rare Disorders, Inc. 555: Ichthyosis, Sjogren Larsson Syndrome ** IMPORTANT ** It is possible the main title of the article (Sjogren-Larsson Syndrome) 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 DOC 10 (Sjogren-Larsson Type) Disorder of Cornification 10 (Sjogren-Larsson Type) Ichthyosis, Spastic Neurologic Disorder, Oligophrenia SLS Information on the following disorders can be found in the Related Disorders section: 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 personal physician and/or the agencies listed in the "Resources" section of this report. Sjogren Larsson Syndrome is an inherited disorder characterized by scaling skin (ichthyosis), mental retardation, speech abnormalities, and spasticity. Affected infants develop various degrees of reddened skin, and fine scaling skin. Additionally, larger plate-like thick scales (hyperkeratosis) usually develop in the outer skin layer (hyperkeratosis). After infancy, skin on the arms, legs and the abdomen often displays dark scales and absence of redness. Speech abnormalities and seizures may accompany skin symptoms. Approximately half of the children affected with this disorder will have degeneration of the pigment in the retina of the eyes. Symptoms Symptoms of Sjogren Larsson Syndrome usually begin during infancy. This disorder is characterized by fine scales on the skin with varying degrees of redness. In time, larger thick platelike scales may appear on the skin surface. After infancy, one (the flexural) side of the arms and legs are affected by dark scaly areas without redness. Speech abnormalities, mental retardation and seizures usually occur during the first 2 or 3 years of life. Glistening spots in the back portion of the inside of the eyeball (ocular fundus) may be an early sign of the disorder. Causes Sjogren Larsson Syndrome is a hereditary disorder transmitted through autosomal recessive genes. It was first described by doctors Sjogren and Larsson who were Swedish physicians. (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 Sjogren Larsson Syndrome is a rare inherited disorder occurring in approximately 8.3 out of 100,000 persons in northern Sweden. It is less prevalent in the U.S. The disorder affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Sjogren Larsson Syndrome. Comparisons may be useful for a differential diagnosis: "Ichthyoses" or "Disorders of Cornification" are general terms describing a group of scaly skin disorders. These skin disorders are characterized by an abnormal accumulation 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 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, which affects males. 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 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 Sjogren Larsson Syndrome can be diagnosed before birth by taking a tiny skin sample from the fetus and examining this for abnormal cells. The disorder 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 the dermatologic symptoms of this disorder. Anti-convulsant medications may control seizures. Speech therapy and special education services may be helpful. Other treatment is symptomatic and supportive. Therapies: Investigational Drugs derived from Vitamin A (retinoids) such as tretinoin, motretinide, and etretinate are often effective against symptoms of Sjogren Larsson Syndrome, 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. Clinical improvement has been reported following limitation of dietary fat to medium-chain triglycerides. 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 Sjogren Larsson Syndrome. 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 Sjogren-Larsson Syndrome, 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 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. TREATMENT OF THE ICHTHYOSIS OF THE SJOGREN-LARSSON SYNDROME WITH ETRETINATE (TIGASON): S. Jagell, et al.; Acta Derm Venereol (Stockholm) (1983: issue 63(1)). Pp. 89-91. MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 1249.