Generalized dominant dystrophic epidermolysis bullosa

General Information (adopted from Orphanet):

Synonyms, Signs: EBDSC, INCLUDED
EBDD EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE, INCLUDED
ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA
EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE
EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE
DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL DOMINANT
EBDCT
DDEB
DDEB, generalized
Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types
DDEB, Pasini and Cockayne-Touraine types
DDEB-gen
Number of Symptoms 33
OrphanetNr: 231568
OMIM Id: 131750
ICD-10: Q81.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[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:0000795) Abnormality of the urethra Occasional [Orphanet] 38 / 7739
2
(HPO:0011037) Decreased urine output Occasional [Orphanet] 47 / 7739
3
(HPO:0100825) Cheilitis Very frequent [Orphanet] 20 / 7739
4
(HPO:0000670) Carious teeth Frequent [Orphanet] 145 / 7739
5
(HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
6
(HPO:0002015) Dysphagia Occasional [Orphanet] 301 / 7739
7
(HPO:0002575) Tracheoesophageal fistula Occasional [Orphanet] 54 / 7739
8
(HPO:0008066) Abnormal blistering of the skin 20 / 7739
9
(HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
10
(HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
11
(HPO:0002164) Nail dysplasia 82 / 7739
12
(HPO:0000987) Atypical scarring of skin Frequent [Orphanet] 58 / 7739
13
(HPO:0008388) Abnormality of the toenails Very frequent [Orphanet] 28 / 7739
14
(HPO:0008065) Aplasia/Hypoplasia of the skin Frequent [Orphanet] 81 / 7739
15
(HPO:0001056) Milia 24 / 7739
16
(HPO:0001075) Atrophic scars 15 / 7739
17
(HPO:0001053) Hypopigmented skin patches Frequent [Orphanet] 80 / 7739
18
(HPO:0008404) Nail dystrophy 89 / 7739
19
(HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
20
(OMIM) Erosions 5 / 7739
21
(OMIM) Mucosal lesions 3 / 7739
22
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
23
(OMIM) Decreased number of anchoring fibrils at dermal-epidermal junction 3 / 7739
24
(OMIM) Blistering, recurrent 5 / 7739
25
(MedDRA:10068058) Nail atrophy 4 / 7739
26
(OMIM) Dystrophic epidermolysis bullosa 6 / 7739
27
(OMIM) Decreased staining for collagen VII at the dermal-epidermal junction 2 / 7739
28
(OMIM) Albopapuloid lesions may occur 4 / 7739
29
(OMIM) Hypotrophic anchoring fibrils 5 / 7739
30
(HPO:0003577) Congenital onset 133 / 7739
31
(OMIM) Sublamina densa level of tissue separation beneath basal membrane 5 / 7739
32
(HPO:0030350) Erythematous papule Occasional [Orphanet] 123 / 7739
33
(OMIM) Atrophic scarring 9 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Epidermolysis bullosa dystrophica is a clinically heterogeneous disorder characterized by blistering and scarring of the skin and mucous membranes in response to mechanical force. Microscopic examination of the skin shows cleavage below the basement membrane within the papillary ...
Clinical Description OMIM Hoffman (1926) first described an autosomal dominant form of epidermolysis bullosa (see also von Verschuer, 1959). Larger series of patients with DDEB were reported by Cockayne (1933) and Touraine (1942). Albopapuloid lesions were reported independently in a subset ...
Molecular genetics OMIM In affected members of a large 5-generation Finnish family reported by Ryynanen et al. (1991) as having the Cockayne-Touraine type of dominant dystrophic epidermolysis bullosa, Christiano et al. (1994) identified a heterozygous mutation in the triple helical domain ...