Rare Ophthalmology News

Disease Profile

Severe generalized recessive dystrophic epidermolysis bullosa

Prevalence
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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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 cancer called squamous cell carcinoma, which tends to be unusually aggressive and is often life-threatening. Severe generalized recessive dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene and is inherited in an autosomal recessive pattern.[1] There is no cure for this condition and treatment is aimed at preventing blisters from forming and managing symptoms.[2]

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 anemia
0001891
Nail dystrophy
Poor nail formation
0008404
Squamous cell carcinoma
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 kidney disease
0012622
Corneal erosion
Damage to outer layer of the cornea of the eye
0200020
Cutaneous melanoma
0012056
Decreased plasma total carnitine
0011936
Decreased serum zinc
0031831
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay

[ more ]

0000823
Dilated cardiomyopathy
Stretched and thinned heart muscle
0001644
Dysphagia
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 contractures involving the joints of the feet
0100492
Low levels of vitamin D
Deficient in vitamin D
Vitamin D deficiency

[ more ]

0100512
Malnutrition
0004395
Narrow mouth
Small mouth
0000160
Osteopenia
0000938
Osteoporosis
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
Autosomal recessive inheritance
0000007
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Congenital onset
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

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

    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

          1. Dystrophic epidermolysis bullosa. Genetics Home Refernce. January 2008; https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa. Accessed 1/31/2014.
          2. 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.