MCID: EPD022
MIFTS: 38

Epidermolysis Bullosa Pruriginosa

Categories: Genetic diseases, Skin diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Epidermolysis Bullosa Pruriginosa

MalaCards integrated aliases for Epidermolysis Bullosa Pruriginosa:

Name: Epidermolysis Bullosa Pruriginosa 57 75 29 13 55 40 73
Dystrophic Epidermolysis Bullosa Pruriginosa 57 59
Deb, Pruriginosa 57 59
Pruriginous Dystrophic Epidermolysis Bullosa 59
Deb-Pr 59
Ebp 75

Characteristics:

Orphanet epidemiological data:

59
dystrophic epidermolysis bullosa pruriginosa
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
intrafamilial variability
blisters are precipitated by minor skin trauma
blistering and erosions tend to occur on extensor surfaces or over bony prominences
blistering frequency may decrease with age
variable age at onset from childhood to adulthood
see also dominant deb , an allelic disorder with a similar phenotype


HPO:

32
epidermolysis bullosa pruriginosa:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 604129
Orphanet 59 ORPHA89843
UMLS via Orphanet 74 C1275114
ICD10 via Orphanet 34 Q81.2
MedGen 42 C1275114
MeSH 44 D016108
UMLS 73 C1275114

Summaries for Epidermolysis Bullosa Pruriginosa

OMIM : 57 Dystrophic epidermolysis bullosa is an inherited skin fragility disorder associated with anchoring fibril abnormalities and sublamina densa blistering. EB pruriginosa is a rare distinct clinical subtype of dystrophic EB in which skin fragility, blistering, and scar formation are associated with intense pruritus, nodular prurigo-like lichenified lesions, nail dystrophy, and variable presence of albopapuloid lesions (McGrath et al., 1994; Cambiaghi et al., 1997). The onset of these clinical features may be evident in early childhood, but in some cases is delayed until the second or third decade of life. Autosomal dominant, autosomal recessive, and sporadic inheritance patterns have all been described in this disorder. (604129)

MalaCards based summary : Epidermolysis Bullosa Pruriginosa, also known as dystrophic epidermolysis bullosa pruriginosa, is related to asthma and mend syndrome. An important gene associated with Epidermolysis Bullosa Pruriginosa is COL7A1 (Collagen Type VII Alpha 1 Chain). Affiliated tissues include skin, and related phenotypes are thin skin and pruritus

UniProtKB/Swiss-Prot : 75 Epidermolysis bullosa pruriginosa: A distinct clinical subtype of epidermolysis bullosa dystrophica. It is characterized by skin fragility, blistering, scar formation, intense pruritus and excoriated prurigo nodules. Onset is in early childhood, but in some cases is delayed until the second or third decade of life. Inheritance can be autosomal dominant or recessive.

Related Diseases for Epidermolysis Bullosa Pruriginosa

Diseases related to Epidermolysis Bullosa Pruriginosa via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 asthma 27.6 FLG IL31 MMP1
2 mend syndrome 12.3
3 chondrodysplasia punctata 2, x-linked dominant 11.8
4 chondrodysplasia punctata 2, x-linked 11.7
5 chondrodysplasia punctata syndrome 11.4
6 epidermolysis bullosa 11.0
7 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 11.0
8 x-linked chondrodysplasia punctata 11.0
9 skin atrophy 11.0
10 esotropia 11.0
11 congenital ichthyosiform erythroderma 10.8
12 digital anomalies-intellectual disability-short stature syndrome 10.8
13 dominant dystrophic epidermolysis bullosa 10.6
14 neuroblastoma 10.5
15 scabies 10.1
16 lichen planopilaris 10.1
17 leukemia 10.1
18 myeloid leukemia 10.0
19 osteoarthritis 10.0
20 lung cancer 10.0
21 hepatitis 10.0
22 thyroiditis 10.0
23 retinoblastoma 9.9
24 liposarcoma 9.9
25 endotheliitis 9.9
26 hepatocellular carcinoma 9.8
27 systemic lupus erythematosus 9.8
28 prostate cancer 9.8
29 rheumatoid arthritis 9.8
30 insulin-like growth factor i 9.8
31 leukemia, acute myeloid 9.8
32 arthritis 9.8
33 prostatitis 9.8
34 pulmonary tuberculosis 9.8
35 pancreatitis 9.8
36 lupus erythematosus 9.8
37 type i 9.8
38 glioma 9.8
39 allergic contact dermatitis 9.7 FLG IL31
40 contact dermatitis 9.7 FLG IL31
41 colorectal cancer 9.7
42 krabbe disease 9.7
43 specific granule deficiency 1 9.7
44 myeloma, multiple 9.7
45 human immunodeficiency virus type 1 9.7
46 leukemia, acute lymphoblastic 9.7
47 myxoid liposarcoma 9.7
48 infantile liver failure syndrome 1 9.7
49 autoimmune lymphoproliferative syndrome, type v 9.7
50 acute liver failure 9.7

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



Diseases related to Epidermolysis Bullosa Pruriginosa

Symptoms & Phenotypes for Epidermolysis Bullosa Pruriginosa

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
milia
epidermolysis bullosa, dystrophic
skin fragility
blistering, recurrent
erosions
more
Skin Nails Hair Skin Electron Microscopy:
sublamina densa level of tissue separation beneath basal membrane
decreased number of anchoring fibrils at dermal-epidermal junction
hypotrophic anchoring fibrils
decreased staining for collagen vii

Skin Nails Hair Nails:
dystrophic nails
nail atrophy


Clinical features from OMIM:

604129

Human phenotypes related to Epidermolysis Bullosa Pruriginosa:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
2 pruritus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000989
3 fragile skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001030
4 milia 59 32 frequent (33%) Frequent (79-30%) HP:0001056
5 atrophic scars 59 32 frequent (33%) Frequent (79-30%) HP:0001075
6 abnormal blistering of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008066
7 nail dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008404
8 papule 59 32 frequent (33%) Frequent (79-30%) HP:0200034
9 skin nodule 59 32 frequent (33%) Frequent (79-30%) HP:0200036
10 skin vesicle 59 32 hallmark (90%) Very frequent (99-80%) HP:0200037
11 nail dysplasia 32 HP:0002164

Drugs & Therapeutics for Epidermolysis Bullosa Pruriginosa

Search Clinical Trials , NIH Clinical Center for Epidermolysis Bullosa Pruriginosa

Genetic Tests for Epidermolysis Bullosa Pruriginosa

Genetic tests related to Epidermolysis Bullosa Pruriginosa:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa Pruriginosa 29 COL7A1

Anatomical Context for Epidermolysis Bullosa Pruriginosa

MalaCards organs/tissues related to Epidermolysis Bullosa Pruriginosa:

41
Skin

Publications for Epidermolysis Bullosa Pruriginosa

Articles related to Epidermolysis Bullosa Pruriginosa:

(show top 50) (show all 63)
# Title Authors Year
1
Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa. ( 29504492 )
2018
2
The clinical phenotype and a novel COL7A1 mutation in a Chinese family with dystrophic epidermolysis bullosa pruriginosa. ( 29512192 )
2018
3
A Novel COL7A1 Mutation in a Chinese Family with Epidermolysis Bullosa Pruriginosa. ( 28164502 )
2017
4
Dystrophic epidermolysis bullosa pruriginosa successfully treated with immunosuppressants. ( 27075048 )
2016
5
Epidermolysis bullosa pruriginosa: a case with a novel mutation and co-existent lichen amyloidosus. ( 25566895 )
2015
6
Die unterdiagnostizierte Epidermolysis bullosa pruriginosa. ( 26408476 )
2015
7
Comment on: epidermolysis bullosa pruriginosa: a systematic review exploring genotype-phenotype correlation. ( 26187371 )
2015
8
Reply to Frane: epidermolysis bullosa pruriginosa: a systematic review exploring genotype-phenotype correlation. ( 26187372 )
2015
9
Epidermolysis Bullosa Pruriginosa ExcoriAce: A Deceptive Pruritic Variant in Two Female Patients. ( 26039182 )
2015
10
Epidermolysis bullosa pruriginosa: a systematic review exploring genotype-phenotype correlation. ( 25690953 )
2015
11
Epidermolysis Bullosa Pruriginosa: Case Series and Review of the Literature. ( 25694436 )
2015
12
Underrecognition of epidermolysis bullosa pruriginosa. ( 26408475 )
2015
13
Case report. Novel and recurrent COL7A1 mutations in Chinese patients with dystrophic epidermolysis bullosa pruriginosa. ( 25222259 )
2014
14
Epidermolysis bullosa pruriginosa: two novel mutations (A2054V and G2233R) in the COL7A1 gene. ( 25284350 )
2014
15
Epidermolysis bullosa pruriginosa: A report of two cases. ( 24616855 )
2014
16
A novel mutation in the COL7A1 gene results in a unique phenotype of epidermolysis bullosa pruriginosa. ( 25556825 )
2014
17
Epidermolysis bullosa pruriginosa showing good response to low-dose thalidomide - a report of two cases. ( 24502315 )
2014
18
Somatic mosaicism for the COL7A1 mutation p.Gly2034Arg in the unaffected mother of a patient with dystrophic epidermolysis bullosa pruriginosa. ( 25113066 )
2014
19
Treatment of epidermolysis bullosa pruriginosa using systemic and topical agents. ( 24831336 )
2014
20
Dystrophic Epidermolysis Bullosa Pruriginosa: The First Report of A Family in Malaysia. ( 23466777 )
2013
21
Dystrophic epidermolysis bullosa pruriginosa in a mother and daughter successfully treated by low dose cyclosporine. ( 24126452 )
2013
22
Epidermolysis bullosa pruriginosa affecting 3 successive generations. ( 24340474 )
2013
23
Four novel and two recurrent glycine substitution mutations in the COL7A1 gene in Chinese patients with epidermolysis bullosa pruriginosa. ( 23397949 )
2013
24
Epidermolysis bullosa pruriginosa: a case with prominent histopathologic inflammation. ( 23616197 )
2013
25
The largest family of the Americas with dominant dystrophic epidermolysis bullosa pruriginosa: a 18-year longitudinal genotype-phenotype study. ( 23688405 )
2013
26
Epidermolysis bullosa pruriginosa triggered by scabies infestation. ( 23663219 )
2013
27
Epidermolysis bullosa pruriginosa: a rare presentation with asymptomatic lesions. ( 23442465 )
2013
28
Genotype-phenotype correlation in Chinese patients with dystrophic epidermolysis bullosa pruriginosa. ( 21879237 )
2012
29
Case of dominant dystrophic epidermolysis bullosa pruriginosa with a c.7868G>A (G2623D) mutation in type VII collagen. ( 22901038 )
2012
30
Dystrophic epidermolysis bullosa pruriginosa with autoantibodies against collagen VII. ( 22481070 )
2012
31
An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred. ( 22515571 )
2012
32
Epidermolysis bullosa pruriginosa with marked phenotypic heterogeneity caused by a recurrent glycine substitution: Incomplete penetrance or a latent case? ( 22011140 )
2012
33
Epidermolysis bullosa pruriginosa: further clarification of the phenotype. ( 23106673 )
2012
34
Dominant dystrophic epidermolysis bullosa pruriginosa with the G2287R mutation. ( 23017881 )
2012
35
Epidermolysis bullosa pruriginosa masquerading as psychogenic pruritus. ( 21844455 )
2011
36
Dystrophic epidermolysis bullosa pruriginosa of elderly onset. ( 21269315 )
2011
37
A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing. ( 21574979 )
2011
38
Bullous dermolysis of the newborn and dystrophic epidermolysis bullosa pruriginosa within the same family: two phenotypes associated with a COL7A1 mutation. ( 21629976 )
2011
39
COL7A1 Recessive mutations in two siblings with distinct subtypes of dystrophic epidermolysis bullosa: pruriginosa versus nails only. ( 21196708 )
2011
40
Common IL-31 gene haplotype associated with non-atopic eczema is not implicated in epidermolysis bullosa pruriginosa. ( 21057749 )
2010
41
New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter. ( 19197535 )
2009
42
A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa. ( 19486043 )
2009
43
Epidermolysis bullosa pruriginosa in association with lichen planopilaris. ( 20055845 )
2009
44
Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations. ( 18565177 )
2008
45
A splicing mutation in the COL7A1 gene causes autosomal dominant dystrophic epidermolysis bullosa pruriginosa. ( 18067480 )
2008
46
Epidermolysis bullosa pruriginosa: a rare autosomal dominant variant. ( 18178992 )
2007
47
Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa. ( 17434045 )
2007
48
A novel missense mutation in COL7A1 in a Chinese pedigree with epidermolysis bullosa pruriginosa. ( 17336503 )
2007
49
Epidermolysis bullosa pruriginosa due to a glycine substitution mutation in the COL7A1-gene. ( 17106611 )
2006
50
Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization. ( 16965329 )
2006

Variations for Epidermolysis Bullosa Pruriginosa

UniProtKB/Swiss-Prot genetic disease variations for Epidermolysis Bullosa Pruriginosa:

75
# Symbol AA change Variation ID SNP ID
1 COL7A1 p.Gly2242Arg VAR_001828 rs121912837
2 COL7A1 p.Gly1791Glu VAR_011168
3 COL7A1 p.Gly2028Arg VAR_011176 rs762162799
4 COL7A1 p.Gly2369Ser VAR_011195
5 COL7A1 p.Gly2713Arg VAR_011198

Expression for Epidermolysis Bullosa Pruriginosa

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

Pathways for Epidermolysis Bullosa Pruriginosa

GO Terms for Epidermolysis Bullosa Pruriginosa

Cellular components related to Epidermolysis Bullosa Pruriginosa according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.62 COL7A1 MMP1

Biological processes related to Epidermolysis Bullosa Pruriginosa according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.16 IL31 MMP1
2 epidermis development GO:0008544 8.96 COL7A1 FLG
3 collagen catabolic process GO:0030574 8.62 COL7A1 MMP1

Sources for Epidermolysis Bullosa Pruriginosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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