EBP
MCID: EPD022
MIFTS: 41

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 57 72 29 13 54 6 39 70
Dystrophic Epidermolysis Bullosa Pruriginosa 57 58
Pruriginous Dystrophic Epidermolysis Bullosa 58
Deb, Pruriginosa 57
Deb Pruriginosa 58
Deb-Pr 58
Ebp 72

Characteristics:

Orphanet epidemiological data:

58
dystrophic epidermolysis bullosa pruriginosa
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
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:

31
epidermolysis bullosa pruriginosa:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


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) (Updated 20-May-2021)

MalaCards based summary : Epidermolysis Bullosa Pruriginosa, also known as dystrophic epidermolysis bullosa pruriginosa, is related to ichthyosis and epidermolysis bullosa. An important gene associated with Epidermolysis Bullosa Pruriginosa is COL7A1 (Collagen Type VII Alpha 1 Chain). Affiliated tissues include skin, liver and lung, and related phenotypes are pruritus and abnormality of the elbow

UniProtKB/Swiss-Prot : 72 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 284)
# Related Disease Score Top Affiliating Genes
1 ichthyosis 31.0 FLG COL7A1
2 epidermolysis bullosa 31.0 MMP1 FLG COL7A1
3 skin atrophy 30.9 MMP1 FLG
4 epidermolysis bullosa dystrophica 30.8 MMP1 FLG COL7A1
5 dermatitis 30.1 IL31 FLG
6 recessive dystrophic epidermolysis bullosa 30.0 MMP1 FLG COL7A1
7 epidermolysis bullosa dystrophica, autosomal recessive 30.0 MMP1 COL7A1
8 contact dermatitis 29.2 IL31 FLG
9 allergic contact dermatitis 29.2 IL31 FLG
10 dermatitis, atopic 29.1 IL31 FLG
11 skin disease 29.1 MMP1 IL31 FLG COL7A1
12 asthma 28.7 MMP1 IL31 FLG
13 mend syndrome 11.7
14 chondrodysplasia punctata 2, x-linked dominant 11.5
15 x-linked chondrodysplasia punctata 2 11.1
16 chondrodysplasia punctata syndrome 11.1
17 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 11.0
18 scoliosis 11.0
19 osteochondrodysplasia 10.9
20 greenberg dysplasia 10.9
21 smith-lemli-opitz syndrome 10.9
22 ck syndrome 10.9
23 antley-bixler syndrome 10.9
24 x-linked chondrodysplasia punctata 1 10.9
25 lens disease 10.9
26 rhizomelic chondrodysplasia punctata 10.9
27 prurigo nodularis 10.8
28 lichen planus 10.5
29 ige responsiveness, atopic 10.3
30 amyloidosis 10.3
31 leukemia, acute myeloid 10.3
32 cytokine deficiency 10.2
33 endocarditis 10.2
34 myeloid leukemia 10.2
35 transient bullous dermolysis of the newborn 10.2
36 epidermolysis bullosa dystrophica, autosomal dominant 10.2
37 nail disorder, nonsyndromic congenital, 8 10.2
38 helix syndrome 10.2
39 folliculitis 10.2
40 scabies 10.2
41 alopecia 10.2
42 47,xyy 10.2
43 erythrokeratoderma ''en cocardes'' 10.2
44 frontal fibrosing alopecia 10.2
45 quinquaud folliculitis decalvans 10.2
46 bullous lichen planus 10.2
47 lichen amyloidosis 10.2
48 inherited epidermolysis bullosa 10.2
49 non-alcoholic fatty liver disease 10.1
50 leukemia 10.1

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:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000989
2 abnormality of the elbow 58 31 frequent (33%) Frequent (79-30%) HP:0009811
3 nail dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008404
4 abnormality of the wrist 58 31 frequent (33%) Frequent (79-30%) HP:0003019
5 lichenification 58 31 frequent (33%) Frequent (79-30%) HP:0100725
6 skin plaque 58 31 frequent (33%) Frequent (79-30%) HP:0200035
7 pretibial blistering 58 31 frequent (33%) Frequent (79-30%) HP:0012221
8 hyperkeratosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000962
9 subcutaneous nodule 58 31 occasional (7.5%) Occasional (29-5%) HP:0001482
10 papule 58 31 occasional (7.5%) Occasional (29-5%) HP:0200034
11 abnormal toenail morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0008388
12 milia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001056
13 atrophic scars 58 31 occasional (7.5%) Occasional (29-5%) HP:0001075
14 junctional split 58 31 occasional (7.5%) Occasional (29-5%) HP:0003341
15 abnormality of head or neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000152
16 abnormality of the forearm 58 31 occasional (7.5%) Occasional (29-5%) HP:0002973
17 increased circulating ige level 31 very rare (1%) HP:0003212
18 nail dysplasia 31 HP:0002164
19 abnormal blistering of the skin 58 Very frequent (99-80%)
20 increased circulating total ige level 58 Very rare (<4-1%)
21 dermal atrophy 58 Occasional (29-5%)
22 fragile skin 31 HP:0001030
23 scarring 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
milia
skin fragility
epidermolysis bullosa, dystrophic
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 (Updated 20-May-2021)

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:

40
Skin, Liver, Lung, Kidney, Thyroid, Myeloid, Bone

Publications for Epidermolysis Bullosa Pruriginosa

Articles related to Epidermolysis Bullosa Pruriginosa:

(show top 50) (show all 79)
# Title Authors PMID Year
1
Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa. 61 57 54
10383749 1999
2
Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa. 57 61
17434045 2007
3
Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization. 57 61
16965329 2006
4
Epidermolysis bullosa pruriginosa (McGrath) successfully controlled by oral cyclosporin. 57 61
9292092 1997
5
A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa. 61 57
9182828 1997
6
Epidermolysis bullosa pruriginosa. 61 57
9267744 1997
7
Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features. 61 57
8204470 1994
8
A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa. 61 54
19486043 2009
9
A splicing mutation in the COL7A1 gene causes autosomal dominant dystrophic epidermolysis bullosa pruriginosa. 54 61
18067480 2008
10
A novel missense mutation in COL7A1 in a Chinese pedigree with epidermolysis bullosa pruriginosa. 61 54
17336503 2007
11
A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa. 54 61
15115517 2004
12
A novel splice site mutation in collagen type VII gene in a Chinese family with dominant dystrophic epidermolysis bullosa pruriginosa. 54 61
12353709 2002
13
[Study on COL7A1 gene mutation in a epidermolysis bullosa pruriginosa family]. 54 61
11218887 2000
14
Epidermolysis bullosa pruriginosa treated with dupilumab. 61
33336814 2020
15
Successful use of cyclosporine in epidermolysis bullosa pruriginosa. 61
33131200 2020
16
Epidermolysis Bullosa Pruriginosa successfully treated with concomitant topical and systemic agents. 61
32524588 2020
17
Promising effect of intravenous immunoglobulin therapy for epidermolysis bullosa pruriginosa. 61
32506551 2020
18
Treatment of epidermolysis bullosa pruriginosa-associated pruritus with dupilumab. 61
31899820 2020
19
Epidermolysis Bullosa Pruriginosa: An Unusual Presentation of a Simplex Variant. 61
31809273 2020
20
Dominant Dystrophic Epidermolysis Bullosa Pruriginosa Responding to Naltrexone Treatment. 61
31453628 2019
21
Epidermolysis bullosa pruriginosa: A rare entity which responded well to thalidomide. 61
31355515 2019
22
Dystrophic epidermolysis bullosa pruriginosa presenting with flagellate scarring lesions. 61
30288768 2019
23
Whole exome sequencing identified two point mutations of COL7A1 and FLG in a Chinese family with dystrophic epidermolysis bullous pruriginosa and ichthyosis vulgaris. 61
30549102 2019
24
Dominant dystrophic epidermolysis bullosa pruriginosa with a COL7A1 exon 87 c.6898C>T mutation. 61
30168161 2019
25
Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa. 61
29504492 2018
26
Epidermolysis Bullosa Pruriginosa Associated with Folliculitis Decalvans: Case Report and Review of the Literature. 61
30410911 2018
27
The clinical phenotype and a novel COL7A1 mutation in a Chinese family with dystrophic epidermolysis bullosa pruriginosa. 61
29512192 2018
28
Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes. 61
29272047 2018
29
A Novel COL7A1 Mutation in a Chinese Family with Epidermolysis Bullosa Pruriginosa. 61
28164502 2017
30
Dystrophic epidermolysis bullosa pruriginosa successfully treated with immunosuppressants. 61
27075048 2016
31
A novel mutation in the COL7A1 gene results in a unique phenotype of epidermolysis bullosa pruriginosa. 61
25556825 2016
32
Epidermolysis Bullosa Pruriginosa Excoriée: A Deceptive Pruritic Variant in Two Female Patients. 61
26039182 2016
33
Epidermolysis bullosa pruriginosa: two novel mutations (A2054V and G2233R) in the COL7A1 gene. 61
25284350 2016
34
[Underrecognition of epidermolysis bullosa pruriginosa]. 61
26408476 2015
35
Underrecognition of epidermolysis bullosa pruriginosa. 61
26408475 2015
36
Reply to Frane: epidermolysis bullosa pruriginosa: a systematic review exploring genotype-phenotype correlation. 61
26187372 2015
37
Comment on: epidermolysis bullosa pruriginosa: a systematic review exploring genotype-phenotype correlation. 61
26187371 2015
38
Epidermolysis Bullosa Pruriginosa: Case Series and Review of the Literature. 61
25694436 2015
39
Epidermolysis bullosa pruriginosa: a systematic review exploring genotype-phenotype correlation. 61
25690953 2015
40
Review of thalidomide use in the pediatric population. 61
25617013 2015
41
Somatic mosaicism for the COL7A1 mutation p.Gly2034Arg in the unaffected mother of a patient with dystrophic epidermolysis bullosa pruriginosa. 61
25113066 2015
42
Epidermolysis bullosa pruriginosa: a case with a novel mutation and co-existent lichen amyloidosus. 61
25566895 2015
43
Case report. Novel and recurrent COL7A1 mutations in Chinese patients with dystrophic epidermolysis bullosa pruriginosa. 61
25222259 2014
44
Treatment of epidermolysis bullosa pruriginosa using systemic and topical agents. 61
24831336 2014
45
Epidermolysis bullosa pruriginosa: A report of two cases. 61
24616855 2014
46
Epidermolysis bullosa pruriginosa showing good response to low-dose thalidomide - a report of two cases. 61
24502315 2014
47
Dystrophic epidermolysis bullosa pruriginosa in a mother and daughter successfully treated by low dose cyclosporine. 61
24126452 2013
48
The largest family of the Americas with dominant dystrophic epidermolysis bullosa pruriginosa: a 18-year longitudinal genotype-phenotype study. 61
23688405 2013
49
Epidermolysis bullosa pruriginosa affecting 3 successive generations. 61
24340474 2013
50
Epidermolysis bullosa pruriginosa triggered by scabies infestation. 61
23663219 2013

Variations for Epidermolysis Bullosa Pruriginosa

ClinVar genetic disease variations for Epidermolysis Bullosa Pruriginosa:

6 (show all 24)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL7A1 NM_000094.3(COL7A1):c.7344G>A (p.Val2448=) SNV Pathogenic 372349 rs201728948 GRCh37: 3:48608072-48608072
GRCh38: 3:48570639-48570639
2 COL7A1 NM_000094.4(COL7A1):c.6082G>A SNV Pathogenic 379476 rs762162799 GRCh37: 3:48612870-48612870
GRCh38: 3:48575437-48575437
3 COL7A1 NM_000094.4(COL7A1):c.4048-1G>T SNV Pathogenic 931094 GRCh37: 3:48621990-48621990
GRCh38: 3:48584557-48584557
4 COL7A1 NM_000094.4(COL7A1):c.8156G>A (p.Gly2719Asp) SNV Pathogenic 931389 GRCh37: 3:48604410-48604410
GRCh38: 3:48566977-48566977
5 COL7A1 NM_000094.4(COL7A1):c.6205C>T SNV Pathogenic 17463 rs121912855 GRCh37: 3:48612651-48612651
GRCh38: 3:48575218-48575218
6 COL7A1 NM_000094.3(COL7A1):c.1732C>T (p.Arg578Ter) SNV Pathogenic 372330 rs144023803 GRCh37: 3:48628154-48628154
GRCh38: 3:48590721-48590721
7 COL7A1 NM_000094.4(COL7A1):c.8053C>T (p.Arg2685Ter) SNV Pathogenic 932076 GRCh37: 3:48604617-48604617
GRCh38: 3:48567184-48567184
8 COL7A1 NM_000094.3(COL7A1):c.409C>T (p.Arg137Ter) SNV Pathogenic 449472 rs1203706188 GRCh37: 3:48630987-48630987
GRCh38: 3:48593554-48593554
9 COL7A1 NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg) SNV Pathogenic 29636 rs121912856 GRCh37: 3:48630971-48630971
GRCh38: 3:48593538-48593538
10 COL7A1 NM_000094.4(COL7A1):c.1573C>T SNV Pathogenic 279785 rs368007918 GRCh37: 3:48628960-48628960
GRCh38: 3:48591527-48591527
11 COL7A1 NM_000094.3(COL7A1):c.1637-1G>A SNV Pathogenic 345869 rs886058642 GRCh37: 3:48628250-48628250
GRCh38: 3:48590817-48590817
12 COL7A1 NM_000094.3(COL7A1):c.4027C>T (p.Arg1343Ter) SNV Pathogenic 503709 rs761234904 GRCh37: 3:48622187-48622187
GRCh38: 3:48584754-48584754
13 COL7A1 NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg) SNV Pathogenic 29636 rs121912856 GRCh37: 3:48630971-48630971
GRCh38: 3:48593538-48593538
14 COL7A1 NM_000094.3(COL7A1):c.2005C>T (p.Arg669Ter) SNV Pathogenic 374052 rs780261665 GRCh37: 3:48627691-48627691
GRCh38: 3:48590258-48590258
15 COL7A1 NM_000094.3(COL7A1):c.8047G>A (p.Gly2683Ser) SNV Likely pathogenic 374053 rs1057518863 GRCh37: 3:48604623-48604623
GRCh38: 3:48567190-48567190
16 COL7A1 NM_000094.3(COL7A1):c.8101G>T (p.Gly2701Trp) SNV Likely pathogenic 804362 rs1575418015 GRCh37: 3:48604569-48604569
GRCh38: 3:48567136-48567136
17 COL7A1 NM_000094.4(COL7A1):c.5820G>A SNV Likely pathogenic 431810 rs200972872 GRCh37: 3:48613682-48613682
GRCh38: 3:48576249-48576249
18 COL7A1 NM_000094.4(COL7A1):c.1907G>T SNV Uncertain significance 502658 rs116005007 GRCh37: 3:48627789-48627789
GRCh38: 3:48590356-48590356
19 COL7A1 NM_000094.4(COL7A1):c.7068+5G>A SNV Uncertain significance 689753 rs779875751 GRCh37: 3:48609429-48609429
GRCh38: 3:48571996-48571996
20 COL7A1 NM_000094.3(COL7A1):c.6091G>A (p.Gly2031Ser) SNV Uncertain significance 17446 rs121912838 GRCh37: 3:48612861-48612861
GRCh38: 3:48575428-48575428
21 COL7A1 NM_000094.4(COL7A1):c.8234G>A SNV Uncertain significance 805756 rs377182638 GRCh37: 3:48604163-48604163
GRCh38: 3:48566730-48566730
22 COL7A1 NM_000094.4(COL7A1):c.5273G>A (p.Gly1758Glu) SNV Uncertain significance 932075 GRCh37: 3:48616836-48616836
GRCh38: 3:48579403-48579403
23 COL7A1 NM_000094.4(COL7A1):c.2157G>C (p.Trp719Cys) SNV Uncertain significance 930807 GRCh37: 3:48627045-48627045
GRCh38: 3:48589612-48589612
24 COL7A1 NM_000094.3(COL7A1):c.4818+18T>A SNV Uncertain significance 255111 rs368227259 GRCh37: 3:48618863-48618863
GRCh38: 3:48581430-48581430

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

72
# 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

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 8.96 MMP1 IL31
2 extracellular matrix organization GO:0030198 8.62 MMP1 COL7A1

Sources for Epidermolysis Bullosa Pruriginosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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