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  3. Epidermolysis bullosa simplex with mottled pigmentation
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Epidermolysis bullosa simplex with mottled pigmentation


Title




Other Names:
EBS with mottled pigmentation; EBS-MP; Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering
Categories:
Congenital and Genetic Diseases; Skin Diseases
This disease is grouped under:
Epidermolysis bullosa; Epidermolysis bullosa simplex

Summary Summary


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Epidermolysis bullosa simplex with mottled pigmentation is a rare form of epidermolysis bullosa (EB). EB is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Erosions and blisters form in response to minor injury or friction, such as rubbing or scratching.[2310] In EB simplex with mottled pigmentation, blistering may begin at birth.[1] People with this condition have a mottled appearance of their skin (ie., darker and lighter colored spots of skin).[1] Their skin may seem to age more quickly and bruise easily.[1] EB simplex with mottled pigmentation is caused by a mutation in the keratin-5 gene (KRT5) and is inherited in an autosomal dominant fashion.[1]
Last updated: 9/7/2011

Symptoms Symptoms


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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.

Showing of 15 |
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
Hypopigmented skin patches
Patchy loss of skin color
0001053
Reticulated skin pigmentation 0007427
30%-79% of people have these symptoms
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising
[ more ]
0000978
Dermal atrophy
Skin degeneration
0004334
Nail dystrophy
Poor nail formation
0008404
Palmoplantar keratoderma
Thickening of palms and soles
0000982
Prematurely aged appearance
Precociously senile appearance
0007495
5%-29% of people have these symptoms
Milia
Milk spot
0001056
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Discrete 2 to 5-mm hyper- and hypopigmented macules 0007494
Mottled pigmentation of the trunk and proximal extremities 0007438
Nail dysplasia
Atypical nail growth
0002164
Onychogryposis
Thick nail
Thickened nails
[ more ]
0001805
Punctate palmoplantar hyperkeratosis 0007530
Showing of 15 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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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.

Find a Specialist Find a Specialist


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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

  • The Dystrophic Epidermolysis Bullosa Research Association of America, Inc. (DEBRA) offers a National Physician Referral Service that connects people suffering with epidermolysis bullosa to qualified and knowledgeable health care professionals in their communities. Click on the link above to learn more about this and other services offered by the DEBRA.
  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Research Research


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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.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Epidermolysis bullosa simplex with mottled pigmentation. 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 Epidermolysis bullosa simplex with mottled pigmentation:
    EBCare Registry
     

Organizations Organizations


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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

  • DebRA International
    Am Heumarkt 27/3
    1030 Vienna
    Austria
    Telephone: +43 1 876 40 30-0
    Fax: +43 1 876 40 30-30
    E-mail: office@debra-international.org
    Website: http://www.debra-international.org/
  • Dystrophic Epidermolysis Bullosa Research Association of America (DEBRA of America)
    75 Broad Street
    Suite 300
    New York, NY 10004
    Toll-free: 855-CURE-4-EB
    Telephone: 212-868-1573
    Fax: 212-868-9296
    E-mail: staff@debra.org
    Website: http://www.debra.org
  • Epidermolysis Bullosa Center
    The EB Center
    Cincinnati Children's Hospital Medical Center
    MLD 3004
    3333 Burnet Avenue
    Cincinnati, OH 45229-3039
    Telephone: 513-636-2009
    E-mail: ebcenter@cchmc.org
    Website: https://www.cincinnatichildrens.org/service/e/epidermolysis-bullosa
  • Epidermolysis Bullosa Medical Research Foundation (EBMRF)
    2757 Anchor Ave
    Los Angeles, CA 90064
    Telephone: +1-310-205-5119
    E-mail: a.pett@bep-la.com
    Website: https://ebmrf.org/
  • Genetic Skin Disease Center
    Stanford Medical Dermatology Clinic
    Stanford Medicine Outpatient Center
    450 Broadway
    Pavilion B, 4th Floor
    Redwood City, CA 94063
    Telephone: 650-723-6316
    Fax: 650-725-7711
    Website: http://dermatology.stanford.edu/contact/

Social Networking Websites

  • RareConnect is an online social network for patients and families to connect with one another and share their experience living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders). Click on the link above to view the community for Epidermolysis bullosa.
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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.

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. 
  • 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 Epidermolysis bullosa simplex with mottled pigmentation. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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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. Submit a new question

  • My 1.5 year old daughter has epidermolysis bullosa simplex with mottled pigmentation. Is this disease curable? What treatment is available, and how might I find out if specific treatments may be available where I live? See answer


Have a question? Contact a GARD Information Specialist.

References References


  1. Epidermolysisi bullosa simplex with mottled pigmentation. OMIM. 2009; http://omim.org/entry/131960. Accessed 9/7/2011.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
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