NORD gratefully acknowledges members of the Medical Advisory Board of the Foundation for Ichthyosis & Related Skin Types, for assistance in the preparation of this report.
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.
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:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
For information about clinical trials sponsored by private sources, contact:
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.
The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional.
The content of the website and databases of the National Organization for Rare Disorders (NORD) is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD. Individuals may print one hard copy of an individual disease for personal use, provided that content is unmodified and includes NORD’s copyright.
National Organization for Rare Disorders (NORD)
55 Kenosia Ave., Danbury CT 06810 • (203)744-0100