National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Epidermolytic ichthyosis

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Other Names:
Bullous congenital ichthyosiform erythroderma; epidermolytic hyperkeratosis; EHK; Bullous congenital ichthyosiform erythroderma; epidermolytic hyperkeratosis; EHK; Congenital bullous ichthyosiform erythroderma; BCIE; Bullous ichthyosiform erythroderma congenita; Bullous ichthyosiform erythroderma; Bullous erythroderma ichthyosiformis congenita of Brocq See More
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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]
Last updated: 6/1/2018

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.

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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
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Last updated: 7/1/2020
Many cases of epidermolytic ichthyosis (EI) are sporadic. This means they result from a new mutation in one of the responsible genes (KRT1 or KRT10), in people with no family history of EI.[2][3] However, while people with sporadic EI did not inherit the condition from a parent, they may still pass the condition on to their children.

Inherited cases of EI usually have an autosomal dominant inheritance pattern.[2][3] This means that having a mutation in only one copy of KRT1 or KRT10 in each cell is enough to cause features of the condition. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. Typically, EI due to a new mutation will follow autosomal dominant inheritance in subsequent generations.

Very rarely, EI caused by mutations in the KRT10 gene is inherited in an autosomal recessive manner.[2][3] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:
  • 25% (1 in 4) chance to be affected
  • 50% (1 in 2) chance to be an unaffected carrier like each parent
  • 25% chance to be unaffected and not be a carrier.
Last updated: 2/24/2016

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.
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.
Last updated: 12/12/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
At birth, differential diagnosis includes toxic epidermal necrolysis, inherited epidermolysis bullosa, incontinentia pigmenti or herpetic infection, while in later stages it includes other KPIs such as superficial EI and ichthyosis hystrix of Curth Macklin (see these terms).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Epidermolytic ichthyosis. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Epidermolytic ichthyosis:
    The National Registry for Ichthyosis & Related Skin Disorders
     

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

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Nathalie Jonca and Juliette Mazereeuw-Hautier. Epidermolytic ichthyosis. Orphanet. December, 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=312.
  2. Epidermolytic hyperkeratosis. Genetics Home Reference. November, 2011; http://ghr.nlm.nih.gov/condition/epidermolytic-hyperkeratosis.
  3. Marla J. F. O'Neill. EPIDERMOLYTIC HYPERKERATOSIS; EHK. OMIM. April 15, 2011; http://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; http://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; http://emedicine.medscape.com/article/1112403-overview.