In ichthyosis vulgaris, the skin cells are produced at a normal rate, but they do not shed normally at the surface of the outermost layer of skin (stratum corneum) and are not shed as quickly as they should be. The result is a build-up of scale. Fine scales usually develop on the back and over muscles near the joints, such as an elbow or knee (extensor muscles). Ichthyosis is usually most common and severe over the lower legs.
Ichthyosis vulgaris is an inherited skin disorder, which begins during the first year of life, although it is usually not present at birth. Symptoms in different patients vary in severity, from mild to severe. The scale is usually fine and white. Only a portion of the body may be involved, but scaling is most common and most severe on the lower legs. Scaling on the torso is less severe and the face is usually unaffected. If the face is affected, the scaling is usually limited to the cheeks and forehead. The sides of the neck and the flexural areas are usually spared. Often, the skin on the palms of the hands and soles of the feet is thickened and may have exaggerated lines.
A skin allergy or eczema (atopic dermatitis) may accompany symptoms in approximately half of patients with this disorder. This disorder tends to improve with age. Symptoms can also improve in warm humid climates or during the summer months.
Ichthyosis vulgaris is an inherited disorder transmitted through an autosomal dominant inheritance. The specific genetic defect that causes ichthyosis vulgaris is not yet identified. Human traits, including 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 the father) will be expressed, dominating the other normal gene and resulting in the appearance of the disease. In the case of ichthyosis vulgaris, the gene for the disease overrides the gene for normal skin and the individual shows the disease. The risk of transmitting the disorder from an affected parent to offspring is 50 percent for each pregnancy, regardless of the sex of the child.
Ichthyosis vulgaris is a fairly common disorder that affects approximately one in 250 persons in the United States. Males and females are affected in equal numbers.
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 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 the fat-rich matrix around these cells. These cells can be thought of as bricks, while the matrix would be the mortar holding these cells together. (See "Ichthyosis" in the Rare Disease Database.)
Ichthyosis congenita (collodion baby; congenital ichthyosiform erythroderma; xeroderma; desquamation of the newborn) is an inherited skin disorder. It is characterized by generalized, abnormally red, dry, and rough skin with large coarse and fine white scales. Itchiness (pruritus) usually also develops. Skin on the palms of the hands and soles of the feet can be 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. It is characterized by brownish scales on the back of the neck, back and legs.
Ichthyosis vulgaris is treated topically with moisturizers containing urea or glycerol. Lotions containing alpha-hydroxy acids may help. However, some individuals with ichthyosis vulgaris also may experience atopic dermatitis (red, itchy patches of skin) and the alpha-hydroxy acids may irritate their skin.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.
For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:
For information about clinical trials sponsored by private sources, contact: www.centerwatch.com
For additional information on current research related to ichthyosis vulgaris, contact the Foundation for Ichthyosis & Related Skin Types (FIRST) listed in the Resources section of this report.
McGrath JA.Filaggrin and the great epidermal barrier grief. Australas J Dermatol. 2008 May;49(2):67-73.
Rodríguez E, Illig T, Weidinger S. Filaggrin loss-of-function mutations and association with allergic diseases Pharmacogenomics. 2008 Apr;9(4):399-413.
Liu P, Yang Q, Wang X, Feng A, Yang T, Yang R, Wang P, Yuang M, Liu M, Liu JY, Wang QK. Identification of a Genetic Locus for Ichthyosis Vulgaris on Chromosome 10q22.3-q24.2. J Invest Dermatol. 2007 Dec 13.
Elias, PM, Williams, ML. Enlightened Therapy of the Disorders of Cornification. Clinics in Dermatology. 2003; 21: 269- 273.
DiGiovanna, JJ, Robinson-Bostom, L. Ichthyosis: etiology, diagnosis, and management. Am J Clin Dermatol. 2003; 4: 81-95.
Foundation for Ichthyosis & Related Skin Types 1364 Welsh Road G2 North Wales, PA 19454 Tel: (215)619-0670 Fax: (215)619-0780 Tel: (800)545-3286 Email: info@scalyskin.org Internet: http://www.scalyskin.org
NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse 1 AMS Circle Bethesda, MD 20892-3675 USA Tel: (301)495-4484 Fax: (301)718-6366 Tel: (877)226-4267 TDD: (301)565-2966 Email: NIAMSinfo@mail.nih.gov Internet: http://www.niams.nih.gov/Health_Info
National Registry for Ichthyosis and Related Disorders University of Washington Dermatology Department, Box 356524 1959 N.E. Pacific Seattle, WA 98195-6524 Tel: (206)616-3179 Fax: (206)616-6793 Tel: (800)595-1265 Email: ichreg@u.washington.edu Internet: http://www.skinregistry.org
Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Tel: (301)519-3194 Fax: (240)632-9164 Tel: (888)205-2311 TDD: (888)205-3223 Email: gardinfo@nih.gov Internet: http://www.genome.gov/10000409
Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: getinfo@madisonsfoundation.org Internet: http://www.madisonsfoundation.org
This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). CIGNA members can access the complete report by logging into myCIGNA.com. For non-CIGNA members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.
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