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

Epidermolysis bullosa, lethal acantholytic


Other Names:
EBLA
Categories:
This disease is grouped under:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 158687

Definition
Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters.

Epidemiology
Prevalence is unknown but 3 cases have been reported to date.

Clinical description
Onset of the disease is at birth. Erosions are associated with absent nails, universal alopecia, and, in one patient, neonatal teeth. Extracutaneous involvement is always present, involving erosions of the soft tissues of the oral cavity, and gastrointestinal, genitourinary and respiratory tract abnormalities. Cardiomyopathy has been reported in one case.

Etiology
This form of EBS is due to mutations in the DSP (6p24) gene encoding desmoplakin. A homozygous nonsense mutation in the JUP gene (17q21) has been reported in a patient with a very similar phenotype.

Genetic counseling
Transmission is autosomal recessive.

Prognosis
In reported cases, death occurred within the first month of life from multiorgan failure secondary to huge transcutaneous fluid loss or airway obstruction due to mucosal sloughing.

Visit the Orphanet disease page for more resources.
Last updated: 9/1/2012

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
Alopecia
Hair loss
0001596
Anonychia
Absent nails
Aplastic nails
[ more ] 		0001798
Oral mucosal blisters
Blisters of mouth
0200097
Skin erosion 0200041
5%-29% of people have these symptoms
Cardiomegaly
Enlarged heart
Increased heart size
[ more ] 		0001640
Cardiomyopathy
Disease of the heart muscle
0001638
Esophageal ulceration
Esophagus ulcer
0004791
Natal tooth
Born with teeth
Teeth present at birth
[ more ] 		0000695
Percent of people who have these symptoms is not available through HPO
Abnormality of the nail 0001597
Acantholysis 0100792
Alopecia universalis 0002289
Aplasia cutis congenita
Absence of part of skin at birth
0001057
Autosomal recessive inheritance 0000007
Finger clinodactyly 0040019
Mitten deformity 0004057
Neonatal death
Neonatal lethal
0003811
Phimosis 0001741
Sandal gap
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ] 		0001852
Syndactyly
Webbed fingers or toes
0001159
Tapered distal phalanges of finger
Tapered outermost finger bone
0009884
Widely spaced toes 0008094
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Last updated: 7/1/2020

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.

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

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, lethal acantholytic. 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, lethal acantholytic:
    EBCare Registry
     

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

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.

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, lethal acantholytic. Click on the link to view a sample search on this topic.

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