Dystrophic epidermolysis bullosa pruriginosa

General Information (adopted from Orphanet):

Synonyms, Signs: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA
DEB-Pr
Pruriginous dystrophic epidermolysis bullosa
deb, pruriginosa
Number of Symptoms 27
OrphanetNr: 89843
OMIM Id: 604129
ICD-10: Q81.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Dystrophic epidermolysis bullosa
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0001597) Abnormality of the nail Frequent [Orphanet] 115 / 7739
2
 (HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
3
 (HPO:0100725) Lichenification Frequent [Orphanet] 14 / 7739
4
 (HPO:0000987) Atypical scarring of skin Frequent [Orphanet] 58 / 7739
5
 (HPO:0002164) Nail dysplasia 82 / 7739
6
 (HPO:0008404) Nail dystrophy 89 / 7739
7
 (HPO:0001056) Milia 24 / 7739
8
 (HPO:0001030) Fragile skin 25 / 7739
9
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
10
 (HPO:0000989) Pruritus Very frequent [Orphanet] 111 / 7739
11
 (OMIM) Albopapuloid lesions may occur 4 / 7739
12
 (OMIM) Hypotrophic anchoring fibrils 5 / 7739
13
 (OMIM) Lichenified lesions 1 / 7739
14
 (MedDRA:10037083) Prurigo 1 / 7739
15
 (OMIM) Blistering, recurrent 5 / 7739
16
 (OMIM) Hypertrophic scarring 2 / 7739
17
 (OMIM) Decreased number of anchoring fibrils at dermal-epidermal junction 3 / 7739
18
 (OMIM) Pruritis, intense 1 / 7739
19
 (OMIM) Dystrophic epidermolysis bullosa 6 / 7739
20
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
21
 (OMIM) Sublamina densa level of tissue separation beneath basal membrane 5 / 7739
22
 (OMIM) Erosions 5 / 7739
23
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
24
 (HPO:0030350) Erythematous papule Frequent [Orphanet] 123 / 7739
25
 (OMIM) Decreased staining for collagen VII 3 / 7739
26
 (MedDRA:10068058) Nail atrophy 4 / 7739
27
 (OMIM) Nodular lesions 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Drera et al. (2006) reported 7 unrelated Italian patients with EB pruriginosa. Three patients had a family history of the disorder consistent with autosomal dominant inheritance. Six patients reported onset of symptoms at birth or early childhood. Most ...
Molecular genetics OMIM In affected members of a Taiwanese pedigree with autosomal dominant EB pruriginosa, Lee et al. (1997) identified a heterozygous mutation in the COL7A1 gene (120120.0017). Mellerio et al. (1999) identified the same mutation in a British family with ...