DEB
MCID: EPD009
MIFTS: 61

Epidermolysis Bullosa Dystrophica (DEB) malady

Skin diseases, Fetal diseases categories

Summaries for Epidermolysis Bullosa Dystrophica

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Dystrophic epidermolysis bullosa (deb) is one of the major forms of epidermolysis bullosa. the signs and symptoms of this condition vary widely among affected individuals. in mild cases, blistering may primarily affect the hands, feet, knees, and elbows. severe cases involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. researchers classify deb into three major types. although the types differ in severity, their features overlap significantly. all three types are caused by mutations in the col7a1 gene. the most severe types of dystrophic epidermolysis bullosa are inherited in an autosomal recessive pattern. a milder form of dystrophic epidermolysis bullosa has an autosomal dominant pattern of inheritance. last updated: 4/22/2013

MalaCards: Epidermolysis Bullosa Dystrophica, also known as dystrophic epidermolysis bullosa, is related to epidermolysis bullosa and squamous cell carcinoma, and has symptoms including anus/rectum anomalies, malabsorption/chronic diarrhea/steatorrhea and interstitial/restrictive pneumopathy/restrictive respiratory syndrome. An important gene associated with Epidermolysis Bullosa Dystrophica is COL7A1 (collagen, type VII, alpha 1), and among its related pathways are Degradation of the extracellular matrix and Matrix Metalloproteinases. The compounds (4-aminophenyl)mercuric acetate and astacin have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and heart.

Genetics Home Reference:21 Epidermolysis bullosa is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases of this condition involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems.

Wikipedia:63 Epidermolysis bullosa dystrophica or Dystrophic EB (DEB) is an inherited disease affecting the skin and... more...

GeneReviews summary for ebd

Aliases & Classifications for Epidermolysis Bullosa Dystrophica

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Sources:
8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 48Orphanet, 30LifeMap Discovery™, 60UMLS, 20GeneTests, 22GTR, 44Novoseek, 34MeSH, 56SNOMED-CT, 39NCIt, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

48
epidermolysis bullosa dystrophica:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

epidermolysis bullosa dystrophica 8 19 42 21 48 30 60
dystrophic epidermolysis bullosa 8 19 42 20 22 21 48
deb 19 42 48
dermolytic epidermolysis bullosa 42 48
epidermolysis bullosa, dermolytic 42
epidermolysis bullosa, dystrophic 21
epidermolysis bullosa dystrophic 44


External Ids:

Disease Ontology8 DOID:4959
MeSH34 D016108
NCIt39 C84691
ICD10 via Orphanet26 Q81.2
SNOMED-CT via Orphanet57 254185007
ICD1025 Q81.2

Related Diseases for Epidermolysis Bullosa Dystrophica

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Epidermolysis Bullosa Dystrophica family:

Epidermolysis Bullosa Dystrophica, Ad Epidermolysis Bullosa Dystrophica, Ar

Diseases related to Epidermolysis Bullosa Dystrophica via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 74)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa32.0COL7A1
2squamous cell carcinoma31.1COL7A1, BMP1, MMP10, MMP1
3epidermolysis bullosa pruriginosa30.4COL7A1
4severe generalized recessive dystrophic epidermolysis bullosa10.8
5esophagitis10.8
6amyloidosis10.6
7epidermolysis bullosa dystrophica, ad10.6
8epidermolysis bullosa dystrophica, ar10.6
9junctional epidermolysis bullosa10.6
10cerebellar ataxia10.4
11epidermolysis bullosa dystrophica, autosomal recessive, modifier of10.4
12epidermolysis bullosa simplex10.4
13collagen disease10.4
14glomerulonephritis10.4
15limbal stem cell deficiency10.3
16pityriasis rosea10.3
17epidermolysis bullosa acquisita10.3
18hyperglobulinemic purpura10.3
19syndactyly10.3
20pharyngitis10.3
21maxillary sinus squamous cell carcinoma10.3
22pelger-huet anomaly10.3
23large cell carcinoma10.3
24osteoporosis10.3
25colonic disease10.3
26dilated cardiomyopathy10.3
27laryngitis10.3
28purpura10.3
29sarcoma10.3
30generalized dominant dystrophic epidermolysis bullosa10.3
31transient bullous dermolysis of the newborn10.3
32epidermolysis bullosa, pretibial10.3
33recessive dystrophic epidermolysis bullosa10.3
34dominant dystrophic epidermolysis bullosa10.3
35recessive dystrophic epidermolysis bullosa, generalized, other10.3
36transient bullous of the newborn10.3
37dystrophic epidermolysis bullosa, nails only10.3
38acral dystrophic epidermolysis bullosa10.3
39centripetalis recessive dystrophic epidermolysis bullosa10.3
40chronic ulcer of skin10.3
41norwegian scabies10.3
42marfan syndrome10.3
43iga glomerulonephritis10.3
44x-linked ichthyosis10.3
45enamel caries10.3
46psoriatic arthritis10.3
47hypercalcemia10.3
48down syndrome10.3
49hidrocystoma10.3
50arthritis10.3

Graphical network of the top 20 diseases related to Epidermolysis Bullosa Dystrophica:



Diseases related to epidermolysis bullosa dystrophica

Clinical Features for Epidermolysis Bullosa Dystrophica

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Sources:
48Orphanet
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Symptoms:

48 (show all 52)
  • anus/rectum anomalies
  • malabsorption/chronic diarrhea/steatorrhea
  • interstitial/restrictive pneumopathy/restrictive respiratory syndrome
  • cardiomyopathy/hypertrophic/dilated
  • eczema
  • abnormal scarring/cheloids/hypertrophic scars
  • chronic/relapsing otitis
  • hearing loss/hypoacusia/deafness
  • defect/anomaly of lacrimal system
  • blepharitis/eyelid inflammation
  • heart/cardiac failure
  • ureteral stenosis/narrowing
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • anaemia
  • severe allergic reaction/atopy
  • transient cerebral ischemia/stroke
  • phimosis/preputial adhesions/paraphimosis
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • nephrotic syndrome
  • renal failure
  • renal glomerular defect/glomerulopathy
  • ectropion/entropion/eyelid eversion
  • corneal ulceration/perforation
  • neoplasms/tumors
  • anomalies of hands
  • multiple caries
  • enamel anomaly
  • anomalies of teeth and dentition
  • fissured/scrotal tongue
  • autosomal recessive inheritance
  • autosomal dominant inheritance
  • dysplastic/thick/grooved toenails
  • dysplastic/thick/grooved fingernails
  • nails anomalies
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • skin hypoplasia/aplasia/atrophy
  • claw hand/retracted fingers
  • syndactyly of fingers/interdigital palm
  • gangrena/necrosis
  • larynx/laryngeal stenosis/atresia
  • constipation
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • absent/small fingernails/anonychia of hands
  • irregular/patchy skin hypopigmentation
  • follicular/erythematous/edematous papules/milium
  • chronic skin infection/ulcerations/ulcers/cancrum
  • syndactyly of toes
  • claw toes/retracted toes
  • foot anomalies
  • oral mucosa disease/cheilitis

Drugs & Therapeutics for Epidermolysis Bullosa Dystrophica

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Epidermolysis Bullosa Dystrophica

Drug clinical trials:

Search ClinicalTrials for Epidermolysis Bullosa Dystrophica

Search NIH Clinical Center for Epidermolysis Bullosa Dystrophica

Search CenterWatch for Epidermolysis Bullosa Dystrophica

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Epidermolysis Bullosa Dystrophica cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Epidermolysis Bullosa Dystrophica:
VAVELTA
Embryonic/Adult Cultured Cells Related to Epidermolysis Bullosa Dystrophica:
Human Dermal Fibroblasts, PMID: 20722660

Genetic Tests for Epidermolysis Bullosa Dystrophica

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20GeneTests, 22GTR
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Genetic tests related to Epidermolysis Bullosa Dystrophica:

id Genetic test Affiliating Genes
1 Dystrophic Epidermolysis Bullosa20 22 COL7A1

Anatomical Context for Epidermolysis Bullosa Dystrophica

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Epidermolysis Bullosa Dystrophica:

32
Skin, Tongue, Heart, Trachea, Colon

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Epidermolysis Bullosa Dystrophica:
id TissueAnatomical CompartmentCell Relevance
1 DermisCranial DermisDermal Fibroblasts  
2 DermisVentral DermisDermal Fibroblasts  
3 DermisDorsal DermisDermal Fibroblasts  

Animal Models for Epidermolysis Bullosa Dystrophica or affiliated genes

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Publications for Epidermolysis Bullosa Dystrophica

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Sources:
50PubMed
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Articles related to Epidermolysis Bullosa Dystrophica:

(show top 50)    (show all 128)
idTitleAuthorsYear
1
Oral manifestations of epidermolysis bullosa dystrophica: a rare genetic disease. (23349175)
2013
2
Vascular access for chronic hemodialysis in a patient with epidermolysis bullosa dystrophica Hallopeau-Siemens. (22520719)
2013
3
Chronic leg ulcers as a rare cause for the first diagnosis of epidermolysis bullosa dystrophica. (22974048)
2012
4
Airway management in adult patients with epidermolysis bullosa dystrophica: a case series. (21831082)
2011
5
Anesthesia for balloon dilatation of esophageal strictures in children with epidermolysis bullosa dystrophica: from intubation to sedation. (20543680)
2010
6
Ocular surface reconstruction with cultivated limbal epithelium in a patient with unilateral stem cell deficiency caused by Epidermolysis bullosa dystrophica hallopeau-Siemens. (20164760)
2010
7
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. (20108428)
2010
8
Management of squamous cell carcinoma in a patient with recessive-type epidermolysis bullosa dystrophica. (15522026)
2004
9
Spinal anaesthesia in a patient with epidermolysis bullosa dystrophica. (10969376)
2000
10
Epidermolysis bullosa dystrophica of Hallopeau-Siemens and squamous-cell carcinoma: a case report. (8864399)
1996
11
Chronic recurrent esophageal strictures treated with balloon dilation in children with autosomal recessive epidermolysis bullosa dystrophica. (8503396)
1993
12
Cornea plana and sclerocornea in association with recessive epidermolysis bullosa dystrophica. Case report. (1559352)
1992
13
Squamous cell carcinoma developing in epidermolysis bullosa dystrophica. (1955228)
1991
14
Absence of platelet aggregation activity in blister fluids from epidermolysis bullosa dystrophica and epidermolysis bullosa acquisita. (2288902)
1990
15
Epidermolysis bullosa dystrophica inversa in a child. (2193305)
1990
16
Management of oesophageal stenosis in epidermolysis bullosa dystrophica. (2751329)
1989
17
Management of esophageal spasm in epidermolysis bullosa dystrophica using verapamil. (2732859)
1989
18
Anaesthetic management in patients with epidermolysis bullosa dystrophica. (3407874)
1988
19
Successful prosthetic fitting of a patient with epidermolysis bullosa dystrophica. Case report. (3377888)
1988
20
Dermatology diagnosis. Epidermolysis bullosa dystrophica. (3166664)
1988
21
Autosomal dominant epidermolysis bullosa dystrophica: are the Cockayne-Touraine, the Pasini and the Bart-types different expressions of the same mutant gene? (3621647)
1987
22
Epidermolysis bullosa dystrophica et albopapuloidea (Pasini) (3571561)
1987
23
Behavior of the fibroblasts in recessive epidermolysis bullosa dystrophica within a collagen lattice. (4051561)
1985
24
Management of squamous cell carcinoma in a patient with dominant-type epidermolysis bullosa dystrophica: a surgical challenge. (3983281)
1985
25
Epidermolysis bullosa dystrophica recessive fibroblasts produce increased concentrations of cAMP within a collagen matrix. (6088644)
1984
26
Effects of increased concentrations of prostaglandin E levels with epidermolysis bullosa dystrophica recessive fibroblasts within a populated collagen lattice. (6580349)
1983
27
Esophageal involvement in epidermolysis bullosa dystrophica: clinical and roentgenographic manifestations. (6852425)
1983
28
Upper airway and external genital involvement in epidermolysis bullosa dystrophica. (7071344)
1982
29
Prenatal diagnosis of epidermolysis bullosa dystrophica Hallopeau-Siemens with electron microscopy of fetal skin. (6118526)
1981
30
Acidic glycosaminoglycans in cultured skin fibroblasts of a patient with epidermolysis bullosa dystrophica dominans. (7385228)
1980
31
Epidermolysis bullosa dystrophica of the larynx and trachea. Acute airway obstruction. (7436245)
1980
32
Epidermolysis bullosa dystrophica polydysplastica. A case of anesthetic management in oral surgery. (266679)
1977
33
Preponderance of lysosomal bodies in cultured fibroblasts from patients with recessive epidermolysis bullosa dystrophica. An electron microscopic study. (871388)
1977
34
Epidermolysis bullosa dystrophica dominans (Pasini)-a primary structural defect of the anchoring fibrils. (1262024)
1976
35
Epidermolysis bullosa dystrophica. (1236552)
1975
36
Epidermal neoplasms with epidermolysis bullosa dystrophica with the first report of carcinoma with the acquired type. (172030)
1975
37
Epidermolysis bullosa dystrophica (dermolytic bullous dermatosis). (4449869)
1974
38
Epidermolysis bullosa dystrophica with epidermal neoplasms. (4613279)
1974
39
Epidermolysis bullosa dystrophica and epithelioma of the skin. Review of published cases and report of an additional patient. (4810093)
1974
40
Epidermolysis bullosa dystrophica treated with vitamin E and oral corticosteroids. (4704893)
1973
41
Epidermolysis bullosa dystrophica: report of two cases. (4507285)
1972
42
Esophageal stricture associated with epidermolysis bullosa dystrophica. Report of two cases in siblings. (5021034)
1972
43
Skin homografts in epidermolysis bullosa dystrophica. Case report. (4914409)
1970
44
Polydysplastic epidermolysis bullosa (dystrophica) with oesophageal stenosis. (5801336)
1969
45
Epidermolysis bullosa dystrophica. Report of a case. (5243905)
1968
46
Epidermolysis bullosa dystrophica: report of two cases. (5238930)
1968
47
Epidermolysis bullosa dystrophica: a report of 3 cases in Nigerian children. (5586270)
1967
48
Epidermolysis bullosa dystrophica vegetans. (12985116)
1952
49
Epidermolysis bullosa dystrophica. (18935642)
1948
50
Epidermolysis Bullosa Dystrophica. (19993656)
1947

Genetic Variations for Epidermolysis Bullosa Dystrophica

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Expression for genes affiliated with Epidermolysis Bullosa Dystrophica

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Epidermolysis Bullosa Dystrophica

Search GEO for disease gene expression data for Epidermolysis Bullosa Dystrophica.

Pathways for genes affiliated with Epidermolysis Bullosa Dystrophica

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Sources:
53Reactome, 37NCBI BioSystems Database, 51QIAGEN, 12EMD Millipore
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Compounds for genes affiliated with Epidermolysis Bullosa Dystrophica

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Sources:
44Novoseek, 59Tocris Bioscience, 11DrugBank
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Compounds related to Epidermolysis Bullosa Dystrophica according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1(4-aminophenyl)mercuric acetate449.9MMP1, MMP10
2astacin449.8MMP1, BMP1
3uk 383367599.8MMP10, MMP1
4gi 254023x599.8MMP10, MMP1
5gm 6001599.8MMP10, MMP1
6hydroxamate449.6MMP1, BMP1
7procollagen449.6MMP1, BMP1
8marimastat44 59 1111.6MMP10, MMP1
9batimastat44 59 1111.4MMP1, MMP10

GO Terms for genes affiliated with Epidermolysis Bullosa Dystrophica

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16Gene Ontology
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Cellular components related to Epidermolysis Bullosa Dystrophica according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:0055789.2MMP1, MMP10, BMP1
2basement membraneGO:0056048.7ERBB2IP, FREM1, COL7A1

Biological processes related to Epidermolysis Bullosa Dystrophica according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen catabolic processGO:0305749.2COL7A1, MMP10, MMP1
2proteolysisGO:0065089.2MMP1, MMP10, BMP1
3extracellular matrix disassemblyGO:0226179.0MMP1, MMP10, COL7A1
4extracellular matrix organizationGO:0301988.9MMP1, MMP10, BMP1, COL7A1

Molecular functions related to Epidermolysis Bullosa Dystrophica according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1metalloendopeptidase activityGO:0042229.2MMP1, MMP10, BMP1

Products for genes affiliated with Epidermolysis Bullosa Dystrophica

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Epidermolysis Bullosa Dystrophica

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet