MCID: INH031
MIFTS: 30

Inherited Epidermolysis Bullosa

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Inherited Epidermolysis Bullosa

MalaCards integrated aliases for Inherited Epidermolysis Bullosa:

Name: Inherited Epidermolysis Bullosa 59
Epidermolysis Bullosa Hereditaria 59
Hereditary Epidermolysis Bullosa 59

Characteristics:

Orphanet epidemiological data:

59
inherited epidermolysis bullosa
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Europe),1-9/100000 (United States),1-9/1000000 (United States); Age of onset: All ages;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

ICD10 via Orphanet 34 Q81.0 Q81.1 Q81.2 more
UMLS via Orphanet 73 C1274224
Orphanet 59 ORPHA79361

Summaries for Inherited Epidermolysis Bullosa

MalaCards based summary : Inherited Epidermolysis Bullosa, also known as epidermolysis bullosa hereditaria, is related to obsolete: hereditary epidermolysis bullosa associated with ocular features and epidermolysis bullosa. An important gene associated with Inherited Epidermolysis Bullosa is LAMA3 (Laminin Subunit Alpha 3). The drugs Sunflower and Epigallocatechin gallate have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related phenotypes are skin vesicle and skin erosion

Related Diseases for Inherited Epidermolysis Bullosa

Diseases in the Epidermolysis Bullosa family:

Inherited Epidermolysis Bullosa

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

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 obsolete: hereditary epidermolysis bullosa associated with ocular features 12.4
2 epidermolysis bullosa 11.8
3 epidermolysis bullosa simplex 11.7
4 epidermolysis bullosa simplex with muscular dystrophy 11.7
5 junctional epidermolysis bullosa 11.7
6 epidermolysis bullosa simplex, generalized 11.7
7 epidermolysis bullosa dystrophica 10.6
8 epidermolysis bullosa dystrophica, autosomal recessive 10.5
9 kindler syndrome 10.5
10 dental caries 10.4
11 skin disease 10.4
12 ankyloglossia with or without tooth anomalies 10.3
13 epidermolysis bullosa, junctional, herlitz type 10.3
14 recessive dystrophic epidermolysis bullosa 10.3
15 bullous pemphigoid 10.3
16 epidermolysis bullosa with pyloric atresia 10.3
17 epidermolysis bullosa with congenital localized absence of skin and deformity of nails 10.2
18 lentigines 10.2
19 porphyria cutanea tarda 10.2
20 chromosome 2q35 duplication syndrome 10.2
21 deficiency anemia 10.2
22 porphyria 10.2
23 dermatitis 10.2
24 alopecia 10.2
25 erythrokeratoderma ''en cocardes'' 10.2
26 epidermolysis bullosa, junctional, non-herlitz type 10.2
27 epidermolysis bullosa junctionalis with pyloric atresia 10.2
28 pyloric atresia 10.2
29 epidermolysis bullosa simplex with pyloric atresia 10.2
30 glomerulonephritis 10.2
31 polyhydramnios 10.2
32 esophageal cancer 10.1
33 dowling-degos disease 1 10.1
34 pulmonary alveolar microlithiasis 10.1
35 angiosarcoma 10.1
36 ichthyosis 10.1
37 ectodermal dysplasia 10.1
38 palmoplantar keratosis 10.1
39 dominant dystrophic epidermolysis bullosa 10.1
40 atrial standstill 1 10.1
41 epidermolysis bullosa dystrophica, autosomal dominant 10.1
42 epidermolysis bullosa simplex, dowling-meara type 10.1
43 epidermolysis bullosa simplex, localized 10.1
44 otitis media 10.1
45 pemphigus vulgaris, familial 10.1
46 epidermolysis bullosa simplex, autosomal recessive 1 10.1
47 yemenite deaf-blind hypopigmentation syndrome 10.1
48 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
49 hydronephrosis 10.1
50 respiratory failure 10.1

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



Diseases related to Inherited Epidermolysis Bullosa

Symptoms & Phenotypes for Inherited Epidermolysis Bullosa

Human phenotypes related to Inherited Epidermolysis Bullosa:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skin vesicle 59 32 hallmark (90%) Very frequent (99-80%) HP:0200037
2 skin erosion 59 32 hallmark (90%) Very frequent (99-80%) HP:0200041
3 oral mucosal blisters 59 32 hallmark (90%) Very frequent (99-80%) HP:0200097
4 fragile skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001030
5 nail dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008404
6 milia 59 32 frequent (33%) Frequent (79-30%) HP:0001056
7 abnormal hair morphology 32 frequent (33%) HP:0001595
8 onychogryposis 32 frequent (33%) HP:0001805
9 palmoplantar keratoderma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000982
10 pruritus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000989
11 corneal erosion 59 32 occasional (7.5%) Occasional (29-5%) HP:0200020
12 abnormality of skin pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001000
13 squamous cell carcinoma of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0006739
14 atrophic scars 59 32 occasional (7.5%) Occasional (29-5%) HP:0001075
15 abnormal blistering of the skin 59 Very frequent (99-80%)
16 atypical scarring of skin 59 Occasional (29-5%)
17 abnormality of the hair 59 Frequent (79-30%)
18 thick nail 59 Frequent (79-30%)

Drugs & Therapeutics for Inherited Epidermolysis Bullosa

Drugs for Inherited Epidermolysis Bullosa (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Sunflower Phase 3
2
Epigallocatechin gallate Investigational Phase 2 989-51-5 65064
3
Epigallocatechin Experimental, Investigational Phase 2 970-74-1 72277
4 Antioxidants Phase 2
5 Neuroprotective Agents Phase 2
6 Protective Agents Phase 2
7
Ropivacaine Approved 84057-95-4 71273 175805
8 Anesthetics, Local
9 Analgesics
10 Central Nervous System Depressants
11 Peripheral Nervous System Agents
12 Anesthetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Double Blind, Randomised, Vehicle Controlled, Phase III, Efficacy and Safety Study With 24-month Open-label Follow up of Oleogel-S10 in Patients With Inherited Epidermolysis Bullosa Recruiting NCT03068780 Phase 3 Oleogel-S10;Placebo
2 Open, Prospective, Controlled Case Series Documentation to Compare Intra-individually the Efficacy and Tolerance of Sericare® Versus Non-adhesive Wound Dressing Alone in Accelerating the Epithelialization of Skin Lesions of Patients With Epidermolysis Bullosa Hereditaria Completed NCT01294241 Phase 2 Oleogel-S10
3 Treatment of Epidermolysis Bullosa Dystrophica by Polyphenon E (Epigallocatechin 3 Gallate) Completed NCT00951964 Phase 2 Polyphenon E before Placebo;placebo before treatment
4 A Double-blind, Intra-individual Comparison, Proof-of-concept Trial of Topical AC-203 in Patients With Inherited Epidermolysis Bullosa Completed NCT03468322 Phase 2 AC-203;Vehicle
5 Evaluation of the Efficacy of a Topical Analgesic Treatment With ROPIVACAINE in Children and Young Adults With Hereditary Epidermolysis Bullosa Recruiting NCT03730584 Ropivacaine

Search NIH Clinical Center for Inherited Epidermolysis Bullosa

Genetic Tests for Inherited Epidermolysis Bullosa

Anatomical Context for Inherited Epidermolysis Bullosa

MalaCards organs/tissues related to Inherited Epidermolysis Bullosa:

41
Skin, Bone, Eye

Publications for Inherited Epidermolysis Bullosa

Articles related to Inherited Epidermolysis Bullosa:

(show top 50) (show all 223)
# Title Authors PMID Year
1
Occupational therapy for epidermolysis bullosa: clinical practice guidelines. 38
31174559 2019
2
A retrospective cohort study evaluating the accuracy of clinical diagnosis compared with immunofluorescence and electron microscopy in children with inherited epidermolysis bullosa. 38
30657165 2019
3
Inherited epidermolysis bullosa: description of clinical and subclinical morphological features with optical coherence tomography. 38
30357934 2019
4
A nutrition-based approach to epidermolysis bullosa: Causes, assessments, requirements and management. 38
30857908 2019
5
The Role of Collagen IV and Cytokeratin 5/6 Immunohistochemistry in Identifying Subtypes of Hereditary Epidermolysis Bullosa. 38
27941563 2018
6
Cord blood platelet gel for the treatment of inherited epidermolysis bullosa. 38
29933907 2018
7
Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas - Diagnostic algorithm and principles of therapy. 38
29397027 2018
8
Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes. 38
29679399 2018
9
[Inherited epidermolysis bullosa]. 38
30059072 2018
10
Advances in understanding the molecular basis of skin fragility. 38
29568501 2018
11
Structural proteins of the dermal-epidermal junction targeted by autoantibodies in pemphigoid diseases. 38
28887824 2017
12
IL-6/IL-10 Ratio as A Prognostic and Predictive Marker of the Severity of Inherited Epidermolysis Bullosa. 38
29276186 2017
13
Pro-Inflammatory Chemokines and Cytokines Dominate the Blister Fluid Molecular Signature in Patients with Epidermolysis Bullosa and Affect Leukocyte and Stem Cell Migration. 38
28736230 2017
14
[Study of a family with epidermolysis bullosa simplex resulting from a novel mutation of KRT14 gene]. 38
28777847 2017
15
Development of a clinical diagnostic matrix for characterizing inherited epidermolysis bullosa. 38
27925151 2017
16
Bullous, pseudobullous, & pustular dermatoses. 38
28108048 2017
17
Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing. 38
28392661 2017
18
Betulin-Based Oleogel to Improve Wound Healing in Dystrophic Epidermolysis Bullosa: A Prospective Controlled Proof-of-Concept Study. 38
28611842 2017
19
Diagnosis of Inherited Epidermolysis Bullosa in Resource-Limited Settings: Immunohistochemistry Revisited. 38
29069641 2017
20
[Hereditary epidermolysis bullosa: French national guidelines (PNDS) for diagnosis and treatment]. 38
27931749 2017
21
Epidemiology of Inherited Epidermolysis Bullosa Based on Incidence and Prevalence Estimates From the National Epidermolysis Bullosa Registry. 38
27463098 2016
22
[Mucosal manifestations of epidermolysis bullosa : Clinical presentation and management]. 38
27515981 2016
23
Autoimmunity and Cytokine Imbalance in Inherited Epidermolysis Bullosa. 38
27669234 2016
24
Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases. 38
27544590 2016
25
Molecular therapies for inherited epidermolysis bullosa. 38
27149615 2016
26
Treatment of feet deformities in epidermolysis bullosa. 38
26899603 2016
27
Research Techniques Made Simple: Immunofluorescence Antigen Mapping in Epidermolysis Bullosa. 38
27342035 2016
28
[Hereditary epidermolysis bullosa in school children and adolescents. Clinical picture and interdisciplinary management]. 38
26943360 2016
29
Kindler Syndrome 38
26937547 2016
30
Nailfold capillaroscopic changes in Kindler syndrome. 38
26668784 2015
31
Hereditary epidermolysis bullosa. 38
26513070 2015
32
Proinflammatory Cytokines and Antiskin Autoantibodies in Patients With Inherited Epidermolysis Bullosa. 38
26496255 2015
33
Generalized severe junctional epidermolysis bullosa with congenital absence of skin in churra lambs. 38
26094555 2015
34
Systemic granulocyte colony-stimulating factor (G-CSF) enhances wound healing in dystrophic epidermolysis bullosa (DEB): Results of a pilot trial. 38
25956659 2015
35
Epidemiology of inherited epidermolysis bullosa in Romania and genotype-phenotype correlations in patients with dystrophic epidermolysis bullosa. 38
25201089 2015
36
Immunofluorescence mapping in inherited epidermolysis bullosa: a study of 86 cases from India. 38
25070151 2015
37
Epidermolysis bullosa and the partnership with autoimmunity: what should we assimilate? 38
25412732 2015
38
Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory. 38
24947307 2015
39
Ex vivo blister induction: a more sensitive technique for immunofluorescence mapping studies in inherited epidermolysis bullosa. 38
24945756 2014
40
Inherited epidermolysis bullosa. 38
25279494 2014
41
Pain care for patients with epidermolysis bullosa: best care practice guidelines. 38
25603875 2014
42
[Skin care and wound management in patients with inherited bullous epidermolysis]. 38
25326988 2014
43
Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. 38
24690439 2014
44
Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa. 38
24884811 2014
45
Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study. 38
24252097 2014
46
Treatment of hereditary epidermolysis bullosa: updates and future prospects. 38
24402870 2014
47
Dental considerations in hereditary epidermolysis bullosa. 38
24654370 2014
48
Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa. 38
24007552 2013
49
[Education on caring for children with inherited epidermolysis bullosa]. 38
24228332 2013
50
The long and winding road that leads to a cure for epidermolysis bullosa. 38
23826700 2013

Variations for Inherited Epidermolysis Bullosa

Expression for Inherited Epidermolysis Bullosa

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

Pathways for Inherited Epidermolysis Bullosa

GO Terms for Inherited Epidermolysis Bullosa

Sources for Inherited Epidermolysis Bullosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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