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Disease Profile

Epidermolytic ichthyosis

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.
1-9 / 1 000 000

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of onset

Neonatal

ICD-10

Q80.3

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.

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)

Bullous congenital ichthyosiform erythroderma; epidermolytic hyperkeratosis; EHK;

Categories

Congenital and Genetic Diseases; Skin Diseases

Summary

Epidermolytic ichthyosis (EI) is a rare, genetic skin disorder. It becomes apparent at birth, or shortly after birth, with reddening, scaling, and severe blistering of the skin. Hyperkeratosis (thickening of the skin) develops within months and worsens over time. Blister formation decreases, but may still occur after skin trauma or during summer months. Skin can be itchy and smelly, and prone to infection. Other features may include reduced sweating; nail abnormalities; and in severe cases, growth failure.[1] EI is caused by changes (mutations) in the KRT1 or KRT10 genes. About half of cases are due to new mutations and are not inherited from a parent (sporadic). Other cases are usually inherited in an autosomal dominant manner, and rarely, in an autosomal recessive manner.[1][2] Treatment aims at alleviating and preventing symptoms and may include topical moisturizers or medications, and antiseptic washes.[1]

Symptoms

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
80%-99% of people have these symptoms
Abnormal blistering of the skin
Blistering, generalized
Blisters

[ more ]

0008066
Congenital bullous ichthyosiform erythroderma
0007475
Erythroderma
0001019
Poor appetite
Decreased appetite
0004396
Weight loss
0001824
30%-79% of people have these symptoms
Cutaneous photosensitivity
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity

[ more ]

0000992
5%-29% of people have these symptoms
Conjunctival hamartoma
0100780
Palmoplantar keratoderma
Thickening of palms and soles
0000982
Skin ulcer
Open skin sore
0200042
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Autosomal recessive inheritance
0000007
Epidermal acanthosis
Thickening of upper layer of skin
0025092
Palmoplantar hyperkeratosis
Thickening of the outer layer of the skin of the palms and soles
0000972
Scaling skin
flaking skin
peeling skin
scaly skin

[ more ]

0040189

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.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    Treatment

    At this time, there is no cure for epidermolytic ichthyosis (EI) and treatment is a challenge.[4][5] The main goal of therapy is to ease the symptoms. This may be achieved with the following, sometimes in combination:

    • Topical keratolytics (medications which help shed outer layers of skin) examples include lactic acid, alpha-hydroxy acid, or urea.
    • Topical emollients (products that soften the skin)
    • Topical retinoids or oral retinoids these can significantly improve symptoms, but care must be taken to avoid causing increased skin fragility.[6]

    Antiseptic washes can reduce the risk for bacterial infections so as to avoid frequent antibiotic therapy.[1] When blistering is severe, treatment is focused on wound healing and preventing infection.[4]

    Affected newborns with open skin lesions should be transferred to the neonatal ICU to be monitored and treated for infections as needed. They should be handled gently to avoid further trauma to the skin.[6]

    The Foundation for Ichthyosis and Related Skin Types (FIRST) has a webpage with "Tools & Tips for Living with Ichthyosis." This page contains links to information about varies strategies for daily living and care.

    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

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • 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. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Epidermolytic ichthyosis. Click on the link to view a sample search on this topic.

          References

          1. Nathalie Jonca and Juliette Mazereeuw-Hautier. Epidermolytic ichthyosis. Orphanet. December, 2012; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=312.
          2. Epidermolytic hyperkeratosis. Genetics Home Reference. November, 2011; https://ghr.nlm.nih.gov/condition/epidermolytic-hyperkeratosis.
          3. Marla J. F. O'Neill. EPIDERMOLYTIC HYPERKERATOSIS; EHK. OMIM. April 15, 2011; https://www.omim.org/entry/113800.
          4. Keith Choate. Overview of the inherited ichthyoses. UpToDate. Waltham, MA: UpToDate; November, 2016;
          5. Epidermolytic Ichthyosis: A Patient's Perspective. Foundation for Ichthyosis and Related Skin Types. 2016; https://www.firstskinfoundation.org/types-of-ichthyosis/epidermolytic-ichthyosis.
          6. Brittany G Craiglow. Epidermolytic Ichthyosis (Epidermolytic Hyperkeratosis or Bullous Congenital Ichthyosiform Erythroderma). Medscape Reference. June 3, 2016; https://emedicine.medscape.com/article/1112403-overview.

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