Rare Pulmonology News

Disease Profile

Ichthyosis vulgaris

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Ichthyosis simplex; Common ichthyosis; Fish scale disease

Categories

Skin Diseases

Summary

Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern.[1]

Symptoms

The main characteristic is dry, rough, scaly skin. The skin over the legs is most commonly affected, but other areas such as the arms, hands, and middle of the body may also be involved. Persons with this condition may also have many fine lines over the palm of the hand.[1]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Asthma
0002099
Eczematoid dermatitis
0000976
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Autosomal recessive inheritance
0000007
Childhood onset
Symptoms begin in childhood
0011463
Dry skin
0000958
Ichthyosis
0008064
Keratosis pilaris
Chicken skin
0032152

Cause

Ichthyosis vulgaris is caused by a genetic mutation. The mutated gene causes an abnormality in the normal lifecycle of skin. Whilst in most people, the growth, dying and shedding of skin happens unnoticed, people with ichthyosis reproduce new skin cells at a rate faster than they can shed it, or reproduce at a normal rate but the rate of shedding is too slow. Either way there is a build up of dry scaly skin. The mutated gene in ichthyosis vulgaris is found on chromosome 1q21 and is related to a protein called filaggrin.[2] To learn more about the protein filaggrin please click here.

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    While there's no known cure for ichthyosis, there are treatments available to help manage the symptoms. Medications may include: [3]

    1. Creams and ointments containing alpha hydroxy acids such as lactic acid and glycolic acid that help to control scaling of the skin and increase skin moisture.
    2. Retinoids to reduce the production of skin cells.
    3. Antibiotics to treat secondary infections.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • DermNetNZ provides information on ichthyosis in general. DermNetNZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated.
      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

        In-Depth Information

        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Ichthyosis vulgaris. Click on the link to view a sample search on this topic.

          References

          1. Ichthyosis vulgaris. MedlinePlus. May 2011; https://www.nlm.nih.gov/medlineplus/ency/article/001451.htm. Accessed 1/24/2013.
          2. Ichthyosis. DermNet NZ. January 2013; https://www.dermnetnz.org/scaly/ichthyosis.html. Accessed 1/24/2013.
          3. Ichthyosis vulgaris. Mayo Clinic. October 2012; https://www.mayoclinic.com/health/ichthyosis-vulgaris/DS00734/DSECTION=treatments-and-drugs. Accessed 1/24/2013.

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