EBP
MCID: EPD022
MIFTS: 39

Epidermolysis Bullosa Pruriginosa (EBP)

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

Aliases & Classifications for Epidermolysis Bullosa Pruriginosa

MalaCards integrated aliases for Epidermolysis Bullosa Pruriginosa:

Name: Epidermolysis Bullosa Pruriginosa 58 76 30 13 56 6 41 74
Dystrophic Epidermolysis Bullosa Pruriginosa 58 60
Deb, Pruriginosa 58 60
Pruriginous Dystrophic Epidermolysis Bullosa 60
Deb-Pr 60
Ebp 76

Characteristics:

Orphanet epidemiological data:

60
dystrophic epidermolysis bullosa pruriginosa
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood;

OMIM:

58
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:

33
epidermolysis bullosa pruriginosa:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 604129
MeSH 45 D016108
ICD10 via Orphanet 35 Q81.2
UMLS via Orphanet 75 C1275114
Orphanet 60 ORPHA89843
MedGen 43 C1275114
UMLS 74 C1275114

Summaries for Epidermolysis Bullosa Pruriginosa

OMIM : 58 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 epidermolysis bullosa dystrophica and dermatitis. An important gene associated with Epidermolysis Bullosa Pruriginosa is COL7A1 (Collagen Type VII Alpha 1 Chain). Affiliated tissues include skin, prostate and kidney, and related phenotypes are abnormal blistering of the skin and pruritus

UniProtKB/Swiss-Prot : 76 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 111)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa dystrophica 30.6 COL7A1 FLG MMP1
2 dermatitis 30.2 FLG IL31
3 asthma 28.8 FLG IL31 MMP1
4 mend syndrome 12.5
5 chondrodysplasia punctata 2, x-linked dominant 12.3
6 chondrodysplasia punctata syndrome 11.6
7 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 11.2
8 x-linked chondrodysplasia punctata 1 11.2
9 ichthyosis 11.2
10 skin atrophy 11.2
11 esotropia 11.2
12 epidermolysis bullosa 11.2
13 dominant dystrophic epidermolysis bullosa 10.8
14 laryngeal adductor paralysis 10.3
15 transient bullous dermolysis of the newborn 10.3
16 epidermolysis bullosa dystrophica, autosomal dominant 10.3
17 nail disorder, nonsyndromic congenital, 8 10.3
18 folliculitis 10.3
19 scabies 10.3
20 lichen planopilaris 10.3
21 quinquaud's decalvans folliculitis 10.3
22 lichen amyloidosis 10.3
23 leukemia 10.3
24 myeloid leukemia 10.2
25 osteoarthritis 10.2
26 retinoblastoma 10.1
27 lung cancer 10.1
28 acute cystitis 10.1
29 insulin-like growth factor i 10.0
30 renal fibrosis 10.0
31 liposarcoma 10.0
32 hyperglycemia 10.0
33 hepatocellular carcinoma 9.9
34 systemic lupus erythematosus 9.9
35 prostate cancer 9.9
36 rheumatoid arthritis 9.9
37 indifference to pain, congenital, autosomal recessive 9.9
38 leukemia, acute myeloid 9.9
39 prostate cancer, hereditary, 8 9.9
40 prostate cancer, hereditary, 6 9.9
41 riboflavin deficiency 9.9
42 infantile liver failure syndrome 1 9.9
43 acute liver failure 9.9
44 arthritis 9.9
45 hepatitis 9.9
46 acute pancreatitis 9.9
47 pulmonary tuberculosis 9.9
48 pancreatitis 9.9
49 lupus erythematosus 9.9
50 bowenoid papulosis 9.9

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



Diseases related to Epidermolysis Bullosa Pruriginosa

Symptoms & Phenotypes for Epidermolysis Bullosa Pruriginosa

Human phenotypes related to Epidermolysis Bullosa Pruriginosa:

60 33 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal blistering of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0008066
2 pruritus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000989
3 thin skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000963
4 skin vesicle 60 33 hallmark (90%) Very frequent (99-80%) HP:0200037
5 fragile skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0001030
6 nail dystrophy 60 33 frequent (33%) Frequent (79-30%) HP:0008404
7 papule 60 33 frequent (33%) Frequent (79-30%) HP:0200034
8 skin nodule 60 33 frequent (33%) Frequent (79-30%) HP:0200036
9 milia 60 33 frequent (33%) Frequent (79-30%) HP:0001056
10 atrophic scars 60 33 frequent (33%) Frequent (79-30%) HP:0001075
11 nail dysplasia 33 HP:0002164

Symptoms via clinical synopsis from OMIM:

58
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

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 30 COL7A1

Anatomical Context for Epidermolysis Bullosa Pruriginosa

MalaCards organs/tissues related to Epidermolysis Bullosa Pruriginosa:

42
Skin, Prostate, Kidney, Liver, Myeloid, Lung, Neutrophil

Publications for Epidermolysis Bullosa Pruriginosa

Articles related to Epidermolysis Bullosa Pruriginosa:

(show top 50) (show all 66)
# Title Authors Year
1
Dominant dystrophic epidermolysis bullosa pruriginosa with a COL7A1 exon 87 c.6898C>T mutation. ( 30168161 )
2019
2
Dystrophic epidermolysis bullosa pruriginosa presenting with flagellate scarring lesions. ( 30288768 )
2019
3
Epidermolysis Bullosa Pruriginosa Associated with Folliculitis Decalvans: Case Report and Review of the Literature. ( 30410911 )
2018
4
Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa. ( 29504492 )
2018
5
The clinical phenotype and a novel COL7A1 mutation in a Chinese family with dystrophic epidermolysis bullosa pruriginosa. ( 29512192 )
2018
6
A Novel COL7A1 Mutation in a Chinese Family with Epidermolysis Bullosa Pruriginosa. ( 28164502 )
2017
7
Dystrophic epidermolysis bullosa pruriginosa successfully treated with immunosuppressants. ( 27075048 )
2016
8
Epidermolysis Bullosa Pruriginosa Excoriée: A Deceptive Pruritic Variant in Two Female Patients. ( 26039182 )
2016
9
Epidermolysis bullosa pruriginosa: two novel mutations (A2054V and G2233R) in the COL7A1 gene. ( 25284350 )
2016
10
A novel mutation in the COL7A1 gene results in a unique phenotype of epidermolysis bullosa pruriginosa. ( 25556825 )
2016
11
Epidermolysis bullosa pruriginosa: a systematic review exploring genotype-phenotype correlation. ( 25690953 )
2015
12
Epidermolysis Bullosa Pruriginosa: Case Series and Review of the Literature. ( 25694436 )
2015
13
Comment on: epidermolysis bullosa pruriginosa: a systematic review exploring genotype-phenotype correlation. ( 26187371 )
2015
14
Reply to Frane: epidermolysis bullosa pruriginosa: a systematic review exploring genotype-phenotype correlation. ( 26187372 )
2015
15
Underrecognition of epidermolysis bullosa pruriginosa. ( 26408475 )
2015
16
Somatic mosaicism for the COL7A1 mutation p.Gly2034Arg in the unaffected mother of a patient with dystrophic epidermolysis bullosa pruriginosa. ( 25113066 )
2015
17
Epidermolysis bullosa pruriginosa: a case with a novel mutation and co-existent lichen amyloidosus. ( 25566895 )
2015
18
[Underrecognition of epidermolysis bullosa pruriginosa]. ( 26408476 )
2015
19
Epidermolysis bullosa pruriginosa showing good response to low-dose thalidomide - a report of two cases. ( 24502315 )
2014
20
Epidermolysis bullosa pruriginosa: A report of two cases. ( 24616855 )
2014
21
Treatment of epidermolysis bullosa pruriginosa using systemic and topical agents. ( 24831336 )
2014
22
Case report. Novel and recurrent COL7A1 mutations in Chinese patients with dystrophic epidermolysis bullosa pruriginosa. ( 25222259 )
2014
23
The largest family of the Americas with dominant dystrophic epidermolysis bullosa pruriginosa: a 18-year longitudinal genotype-phenotype study. ( 23688405 )
2013
24
Dystrophic epidermolysis bullosa pruriginosa: the first report of a family in malaysia. ( 23466777 )
2013
25
Epidermolysis bullosa pruriginosa: a case with prominent histopathologic inflammation. ( 23616197 )
2013
26
Epidermolysis bullosa pruriginosa triggered by scabies infestation. ( 23663219 )
2013
27
Dystrophic epidermolysis bullosa pruriginosa in a mother and daughter successfully treated by low dose cyclosporine. ( 24126452 )
2013
28
Epidermolysis bullosa pruriginosa affecting 3 successive generations. ( 24340474 )
2013
29
Four novel and two recurrent glycine substitution mutations in the COL7A1 gene in Chinese patients with epidermolysis bullosa pruriginosa. ( 23397949 )
2013
30
Epidermolysis bullosa pruriginosa: a rare presentation with asymptomatic lesions. ( 23442465 )
2013
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
Case of dominant dystrophic epidermolysis bullosa pruriginosa with a c.7868G>A (G2623D) mutation in type VII collagen. ( 22901038 )
2012
33
Dominant dystrophic epidermolysis bullosa pruriginosa with the G2287R mutation. ( 23017881 )
2012
34
Epidermolysis bullosa pruriginosa: further clarification of the phenotype. ( 23106673 )
2012
35
Genotype-phenotype correlation in Chinese patients with dystrophic epidermolysis bullosa pruriginosa. ( 21879237 )
2012
36
Epidermolysis bullosa pruriginosa with marked phenotypic heterogeneity caused by a recurrent glycine substitution: Incomplete penetrance or a latent case? ( 22011140 )
2012
37
Dystrophic epidermolysis bullosa pruriginosa with autoantibodies against collagen VII. ( 22481070 )
2012
38
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
39
Bullous dermolysis of the newborn and dystrophic epidermolysis bullosa pruriginosa within the same family: two phenotypes associated with a COL7A1 mutation. ( 21629976 )
2011
40
Epidermolysis bullosa pruriginosa masquerading as psychogenic pruritus. ( 21844455 )
2011
41
COL7A1 Recessive mutations in two siblings with distinct subtypes of dystrophic epidermolysis bullosa: pruriginosa versus nails only. ( 21196708 )
2011
42
Dystrophic epidermolysis bullosa pruriginosa of elderly onset. ( 21269315 )
2011
43
Common IL-31 gene haplotype associated with non-atopic eczema is not implicated in epidermolysis bullosa pruriginosa. ( 21057749 )
2010
44
Epidermolysis bullosa pruriginosa in association with lichen planopilaris. ( 20055845 )
2009
45
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
46
A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa. ( 19486043 )
2009
47
A splicing mutation in the COL7A1 gene causes autosomal dominant dystrophic epidermolysis bullosa pruriginosa. ( 18067480 )
2008
48
Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations. ( 18565177 )
2008
49
Epidermolysis bullosa pruriginosa: a rare autosomal dominant variant. ( 18178992 )
2007
50
A novel missense mutation in COL7A1 in a Chinese pedigree with epidermolysis bullosa pruriginosa. ( 17336503 )
2007

Variations for Epidermolysis Bullosa Pruriginosa

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

76
# 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

ClinVar genetic disease variations for Epidermolysis Bullosa Pruriginosa:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL7A1 NM_000094.3(COL7A1): c.425A> G (p.Lys142Arg) single nucleotide variant Pathogenic rs121912856 GRCh37 Chromosome 3, 48630971: 48630971
2 COL7A1 NM_000094.3(COL7A1): c.425A> G (p.Lys142Arg) single nucleotide variant Pathogenic rs121912856 GRCh38 Chromosome 3, 48593538: 48593538
3 COL7A1 NM_000094.3(COL7A1): c.1573C> T (p.Arg525Ter) single nucleotide variant Pathogenic rs368007918 GRCh37 Chromosome 3, 48628960: 48628960
4 COL7A1 NM_000094.3(COL7A1): c.1573C> T (p.Arg525Ter) single nucleotide variant Pathogenic rs368007918 GRCh38 Chromosome 3, 48591527: 48591527
5 COL7A1 NM_000094.3(COL7A1): c.1637-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs886058642 GRCh38 Chromosome 3, 48590817: 48590817
6 COL7A1 NM_000094.3(COL7A1): c.1637-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs886058642 GRCh37 Chromosome 3, 48628250: 48628250
7 COL7A1 NM_000094.3(COL7A1): c.1732C> T (p.Arg578Ter) single nucleotide variant Pathogenic rs144023803 GRCh37 Chromosome 3, 48628154: 48628154
8 COL7A1 NM_000094.3(COL7A1): c.1732C> T (p.Arg578Ter) single nucleotide variant Pathogenic rs144023803 GRCh38 Chromosome 3, 48590721: 48590721
9 COL7A1 NM_000094.3(COL7A1): c.7344G> A (p.Val2448=) single nucleotide variant Pathogenic rs201728948 GRCh37 Chromosome 3, 48608072: 48608072
10 COL7A1 NM_000094.3(COL7A1): c.7344G> A (p.Val2448=) single nucleotide variant Pathogenic rs201728948 GRCh38 Chromosome 3, 48570639: 48570639
11 COL7A1 NM_000094.3(COL7A1): c.6082G> A (p.Gly2028Arg) single nucleotide variant Pathogenic rs762162799 GRCh37 Chromosome 3, 48612870: 48612870
12 COL7A1 NM_000094.3(COL7A1): c.6082G> A (p.Gly2028Arg) single nucleotide variant Pathogenic rs762162799 GRCh38 Chromosome 3, 48575437: 48575437
13 COL7A1 NM_000094.3(COL7A1): c.5820G> A (p.Pro1940=) single nucleotide variant Pathogenic/Likely pathogenic rs200972872 GRCh37 Chromosome 3, 48613682: 48613682
14 COL7A1 NM_000094.3(COL7A1): c.5820G> A (p.Pro1940=) single nucleotide variant Pathogenic/Likely pathogenic rs200972872 GRCh38 Chromosome 3, 48576249: 48576249
15 COL7A1 NM_000094.3(COL7A1): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs1203706188 GRCh37 Chromosome 3, 48630987: 48630987
16 COL7A1 NM_000094.3(COL7A1): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs1203706188 GRCh38 Chromosome 3, 48593554: 48593554
17 COL7A1 NM_000094.3(COL7A1): c.1907G> T (p.Gly636Val) single nucleotide variant Uncertain significance rs116005007 GRCh37 Chromosome 3, 48627789: 48627789
18 COL7A1 NM_000094.3(COL7A1): c.1907G> T (p.Gly636Val) single nucleotide variant Uncertain significance rs116005007 GRCh38 Chromosome 3, 48590356: 48590356
19 COL7A1 NM_000094.3(COL7A1): c.4027C> T (p.Arg1343Ter) single nucleotide variant Pathogenic rs761234904 GRCh37 Chromosome 3, 48622187: 48622187
20 COL7A1 NM_000094.3(COL7A1): c.4027C> T (p.Arg1343Ter) single nucleotide variant Pathogenic rs761234904 GRCh38 Chromosome 3, 48584754: 48584754

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 8.96 COL7A1 MMP1
2 collagen-containing extracellular matrix GO:0062023 8.62 COL7A1 FLG

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 8.62 IL31 MMP1

Sources for Epidermolysis Bullosa Pruriginosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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