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  3. Epidermolysa bullosa simplex with muscular dystrophy
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Epidermolysa bullosa simplex with muscular dystrophy


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Other Names:
EBS-MD; MDEBS; MD-EBS; EBS-MD; MDEBS; MD-EBS; Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex - limb girdle muscular dystrophy See More
Categories:
Congenital and Genetic Diseases; Eye diseases; Musculoskeletal Diseases; Congenital and Genetic Diseases; Eye diseases; Musculoskeletal Diseases; Nervous System Diseases; Skin Diseases See More
This disease is grouped under:
Epidermolysis bullosa simplex; Limb-girdle muscular dystrophy

Summary Summary


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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 257

Definition
Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy.

Epidemiology
Prevalence is unknown, but more than 40 cases have been reported to date.

Clinical description
Onset of blistering is usually as early as birth, whereas muscular dystrophy manifests between infancy and adulthood. Blisters are often hemorrhagic and heal with mild atrophic scarring and rare milia formation. Associated findings comprise markedly dystrophic nails, and focal keratoderma of the palms and soles. Extracutaneous involvement is usually present, including enamel hypoplasia with premature tooth decay, blistering in the oral cavity, pharynx and, rarely, larynx and trachea with inspiratory stridor and breathing difficulties requiring tracheotomy. Slowly progressive weakness of the head and limb muscles appears between the first year and the fourth decade of life and may confine the patient to a wheelchair. Additional neurological symptoms (ptosis, oculobulbar muscle weakness and fatigability) indicative of a myasthenic syndrome have been described in some patients.

Etiology
EBS-MD is caused by mutations in the PLEC gene (8q24) encoding plectin. Plectin deficiency can be demonstrated in skin and muscle by analysis with specific antibodies.

Genetic counseling
Transmission is autosomal recessive.

Prognosis
From a prognostic point of view, immunohistochemical recognition of EBS-MD in infancy is particularly important, since in some patients the associated muscular dystrophy may not become apparent until later in childhood or adulthood. EBS-MD may have a fatal outcome.

Visit the Orphanet disease page for more resources.
Last updated: 5/1/2012

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 35 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Alopecia
Hair loss
0001596
Aphasia
Difficulty finding words
Losing words
Loss of words
[ more ]
0002381
Dysphasia 0002357
Echolalia
Echoing another person's speech
0010529
Hyperconvex fingernails 0001812
Hypoplastic fingernail
Small fingernail
Underdeveloped fingernail
[ more ]
0001804
Muscle flaccidity 0010547
Mutism
Inability to speak
Muteness
[ more ]
0002300
Myopathy
Muscle tissue disease
0003198
Oculomotor nerve palsy 0012246
Ophthalmoplegia
Eye muscle paralysis
0000602
Skin vesicle 0200037
30%-79% of people have these symptoms
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ]
0000682
Dermal atrophy
Skin degeneration
0004334
Papule 0200034
Ptosis
Drooping upper eyelid
0000508
5%-29% of people have these symptoms
Fatigable weakness 0003473
Fatigue
Tired
Tiredness
[ more ]
0012378
Percent of people who have these symptoms is not available through HPO
Abnormal blistering of the skin
Blistering, generalized
Blisters
[ more ]
0008066
Anemia
Low number of red blood cells or hemoglobin
0001903
Autosomal recessive inheritance 0000007
Carious teeth
Dental cavities
Tooth cavities
Tooth decay
[ more ]
0000670
Hypoplasia of dental enamel
Underdeveloped teeth enamel
0006297
Increased connective tissue 0009025
Keratitis
Corneal inflammation
0000491
Milia
Milk spot
0001056
Muscular dystrophy 0003560
Nail dysplasia
Atypical nail growth
0002164
Nail dystrophy
Poor nail formation
0008404
Neonatal respiratory distress
Infantile respiratory distress
Newborn respiratory distress
Respiratory distress, neonatal
[ more ]
0002643
Palmoplantar hyperkeratosis
Thickening of the outer layer of the skin of the palms and soles
0000972
Punctate keratitis 0011859
Scarring alopecia of scalp 0004552
Short stature
Decreased body height
Small stature
[ more ]
0004322
Urethral stricture 0012227
Showing of 35 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
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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

  • 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 Genetics Home Reference.

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 Epidermolysa bullosa simplex with muscular dystrophy. 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 Epidermolysa bullosa simplex with muscular dystrophy:
    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

  • 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/

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 Epidermolysa bullosa simplex with muscular dystrophy. Click on the link to view a sample search on this topic.

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.

Have a question? Contact a GARD Information Specialist.
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