Rare Endocrinology News
Disease Profile
Severe generalized recessive dystrophic epidermolysis bullosa
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.
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Age of onset
Neonatal
ICD-10
Q81.2
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
Other names (AKA)
Recessive dystrophic epidermolysis bullosa, severe generalized; RDEB, severe generalized; RDEB-sev gen;
Categories
Congenital and Genetic Diseases; Eye diseases; Skin Diseases
Summary
Severe generalized recessive dystrophic epidermolysis bullosa is the most severe types of dystrophic epidermolysis bullosa. The signs and symptoms of this condition involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. As the blisters heal, they result in severe scarring. Scarring in the mouth and esophagus can make it difficult to eat food, leading to poor nutrition and slow growth. Additionally, individuals with this condition have a very high risk of developing a form of skin
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 | ||
Atrophic scars |
Sunken or indented skin due to damage
|
0001075 |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 |
Chronic pain |
Long-lasting pain
|
0012532 |
Fragile skin |
Skin fragility
|
0001030 |
Gastrointestinal inflammation | 0004386 | |
Milia |
Milk spot
|
0001056 |
Mitten deformity | 0004057 | |
Oral mucosal blisters |
Blisters of mouth
|
0200097 |
30%-79% of people have these symptoms | ||
Abnormal scalp morphology |
Abnormality of the scalp
|
0001965 |
Anonychia |
Absent nails
Aplastic nails
[ more ] |
0001798 |
Anxiety |
Excessive, persistent worry and fear
|
0000739 |
Chronic cutaneous wound | 0032676 | |
Depressivity |
Depression
|
0000716 |
Erosion of oral mucosa | 0031446 | |
Iron deficiency |
0001891 | |
Nail dystrophy |
Poor nail formation
|
0008404 |
Squamous |
0002860 | |
5%-29% of people have these symptoms | ||
Abnormal circulating selenium concentration | 0031903 | |
Anal fissure | 0012390 | |
Ankyloglossia |
Tongue tied
|
0010296 |
Aplasia cutis congenita |
Absence of part of skin at birth
|
0001057 |
Chronic |
0012622 | |
Corneal erosion |
Damage to outer layer of the cornea of the eye
|
0200020 |
Cutaneous |
0012056 | |
Decreased plasma total carnitine | 0011936 | |
Decreased serum zinc | 0031831 | |
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 |
Dilated |
Stretched and thinned heart muscle
|
0001644 |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Esophageal ulceration |
Esophagus ulcer
|
0004791 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Glomerulonephritis | 0000099 | |
IgA deposition in the glomerulus | 0000794 | |
Joint |
0100492 | |
Low levels of vitamin D |
Deficient in vitamin D
Vitamin D deficiency
[ more ] |
0100512 |
Malnutrition | 0004395 | |
Narrow mouth |
Small mouth
|
0000160 |
Osteopenia | 0000938 | |
0000939 | ||
Recurrent skin infections |
Skin infections, recurrent
|
0001581 |
Renal amyloidosis | 0001917 | |
Urethral stricture | 0012227 | |
Urinary bladder sphincter dysfunction | 0002839 | |
Visual loss |
Loss of vision
Vision loss
[ more ] |
0000572 |
1%-4% of people have these symptoms | ||
Genital blistering | 0031464 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal blistering of the skin |
Blistering, generalized
Blisters
[ more ] |
0008066 |
Alopecia |
Hair loss
|
0001596 |
Anemia |
Low number of red blood cells or hemoglobin
|
0001903 |
0000007 | ||
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Symptoms present at birth
|
0003577 | |
Conjunctivitis |
Pink eye
|
0000509 |
Constipation | 0002019 | |
Corneal scarring | 0000559 | |
Esophageal stricture |
Narrowing of esophagus due to inflammation and scar tissue
|
0002043 |
Flexion contracture |
Flexed joint that cannot be straightened
|
0001371 |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
Hypoplasia of dental enamel |
Underdeveloped teeth enamel
|
0006297 |
Nail dysplasia |
Atypical nail growth
|
0002164 |
Spontaneous esophageal perforation | 0005203 |
Related diseases
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
|
---|
The differential diagnosis includes other forms of EB. In the neonatal period also herpes simplex infection, congenital erosive and vesicular dermatosis, epidermolytic ichthyosis, bullous pemphigoid, neonatal pemphigus and pemphigoid gestationis, and staphylococcal scalded skin syndrome (see these terms) may need to be considered.
Visit the Orphanet disease page for more information.
|
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
-
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: [email protected]
Website: https://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: [email protected]
Website: https://www.debra.org -
Epidermolysis Bullosa Medical Research Foundation (EBMRF)
2757 Anchor Ave
Los Angeles, CA 90064
Telephone: +1-310-205-5119
E-mail: [email protected]
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.
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
- Genetics Home Reference (GHR) contains information on Severe generalized recessive dystrophic epidermolysis bullosa. This website is maintained by the National Library of Medicine.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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 Severe generalized recessive dystrophic epidermolysis bullosa. Click on the link to view a sample search on this topic.
References
- Dystrophic epidermolysis bullosa. Genetics Home Refernce. January 2008; https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa. Accessed 1/31/2014.
- A service of the U.S. National Library of Medicine. Medline Plus. November 20, 2012; https://www.nlm.nih.gov/medlineplus/ency/article/001457.htm. Accessed 1/31/2014.