Severe generalized recessive dystrophic epidermolysis bullosa

General Information (adopted from Orphanet):

Synonyms, Signs: EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE
EBR1 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT, INCLUDED
DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL RECESSIVE
EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE, INCLUDED
RDEB
Severe generalized RDEB
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
RDEB-sev gen
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
RDEB generalisata gravis
RDEB, Hallopeau-Siemens type
Number of Symptoms 76
OrphanetNr: 79408
OMIM Id: 226600
ICD-10: Q81.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[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
Hereditary epidermolysis bullosa associated with ocular features
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000606) Abnormality of the periorbital region Occasional [Orphanet] 96 / 7739
2
 (HPO:0010296) Ankyloglossia Very frequent [Orphanet] 11 / 7739
3
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
4
 (HPO:0011830) Abnormality of oral mucosa Very frequent [Orphanet] 47 / 7739
5
 (HPO:0000670) Carious teeth Very frequent [Orphanet] 145 / 7739
6
 (HPO:0000498) Blepharitis Occasional [Orphanet] 27 / 7739
7
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
8
 (HPO:0000492) Abnormality of the eyelid Occasional [Orphanet] 41 / 7739
9
 (HPO:0000559) Corneal scarring 9 / 7739
10
 (HPO:0000509) Conjunctivitis 47 / 7739
11
 (HPO:0000518) Cataract 454 / 7739
12
 (HPO:0000505) Visual impairment Occasional [Orphanet] 297 / 7739
13
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
14
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
15
 (HPO:0002015) Dysphagia Very frequent [Orphanet] 301 / 7739
16
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
17
 (HPO:0004057) Mitten deformity 3 / 7739
18
 (HPO:0001760) Abnormality of the foot Frequent [Orphanet] 96 / 7739
19
 (HPO:0001371) Flexion contracture 220 / 7739
20
 (HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
21
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
22
 (HPO:0001155) Abnormality of the hand Frequent [Orphanet] 54 / 7739
23
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
24
 (HPO:0002575) Tracheoesophageal fistula Very frequent [Orphanet] 54 / 7739
25
 (HPO:0002032) Esophageal atresia 19 / 7739
26
 (HPO:0004378) Abnormality of the anus Very frequent [Orphanet] 34 / 7739
27
 (HPO:0004395) Malnutrition 12 / 7739
28
 (HPO:0010450) Esophageal stenosis 7 / 7739
29
 (HPO:0005203) Spontaneous esophageal perforation 2 / 7739
30
 (HPO:0002019) Constipation Very frequent [Orphanet] 194 / 7739
31
 (HPO:0002043) Esophageal stricture 7 / 7739
32
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
33
 (HPO:0001510) Growth delay 295 / 7739
34
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
35
 (HPO:0000987) Atypical scarring of skin Very frequent [Orphanet] 58 / 7739
36
 (HPO:0008069) Neoplasm of the skin Frequent [Orphanet] 84 / 7739
37
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
38
 (HPO:0000989) Pruritus Very frequent [Orphanet] 111 / 7739
39
 (HPO:0001800) Hypoplastic toenails Very frequent [Orphanet] 74 / 7739
40
 (HPO:0008066) Abnormal blistering of the skin 20 / 7739
41
 (HPO:0002164) Nail dysplasia 82 / 7739
42
 (HPO:0008388) Abnormality of the toenails Very frequent [Orphanet] 28 / 7739
43
 (HPO:0001075) Atrophic scars 15 / 7739
44
 (HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
45
 (HPO:0008404) Nail dystrophy 89 / 7739
46
 (HPO:0001056) Milia 24 / 7739
47
 (HPO:0001596) Alopecia Frequent [Orphanet] 162 / 7739
48
 (HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
49
 (HPO:0002860) Squamous cell carcinoma 18 / 7739
50
 (HPO:0001030) Fragile skin 25 / 7739
51
 (HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
52
 (OMIM) Atrophic scarring, severe 2 / 7739
53
 (HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739
54
 (OMIM) Lingual adhesions 2 / 7739
55
 (OMIM) Sublamina densa level of tissue separation beneath basal membrane 5 / 7739
56
 (OMIM) Anal blisters 2 / 7739
57
 (OMIM) Erosions 5 / 7739
58
 (OMIM) Decreased number or absence of anchoring fibrils at dermal-epidermal junction 2 / 7739
59
 (OMIM) Digital fusion 2 / 7739
60
 (OMIM) Dystrophic epidermolysis bullosa 6 / 7739
61
 (OMIM) Congenital absence of skin in areas 2 / 7739
62
 (OMIM) Loss of nails 3 / 7739
63
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
64
 (OMIM) Anemia due to poor nutrition 2 / 7739
65
 (OMIM) Blistering, recurrent 5 / 7739
66
 (MedDRA:10010984) Corneal abrasion 4 / 7739
67
 (OMIM) Eyelid ulcerations 2 / 7739
68
 (OMIM) Poor growth due to poor nutrition 2 / 7739
69
 (HPO:0003577) Congenital onset 133 / 7739
70
 (OMIM) Esophageal blisters 2 / 7739
71
 (OMIM) Mucosal lesions 3 / 7739
72
 (OMIM) Hypotrophic anchoring fibrils 5 / 7739
73
 (OMIM) Oral blisters 2 / 7739
74
 (OMIM) Albopapuloid lesions may occur 4 / 7739
75
 (MedDRA:10068058) Nail atrophy 4 / 7739
76
 (OMIM) Decreased staining for collagen VII 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal recessive dystrophic epidermolysis bullosa is a severe skin disorder beginning at birth and characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane. This results in mutilating scarring and contractures of ...
Diagnosis OMIM - Prenatal Diagnosis

Anton-Lamprecht et al. (1981) achieved prenatal diagnosis of the Hallopeau-Siemens type of epidermolysis bullosa dystrophica by inspection of the skin through the fetoscope, confirmed by electron microscopic examination of a skin biopsy. ...
Clinical Description OMIM Christiano et al. (1995) reported 3 Japanese brothers, aged 20, 16, and 13 years, with autosomal recessive DEB. All had extreme fragility of the skin since birth. The skin involvement led to extensive mutilating scarring, loss of nails, ...
Genotype-Phenotype Correlations OMIM Van den Akker et al. (2011) reviewed the 29 known full genotypes associated with RDEB inversa from their study and the literature and found that the functional genotype in the disorder is a homozygous, compound heterozygous, or hemizygous ...
Molecular genetics OMIM In an African American family in which 4 individuals related as first cousins once removed had autosomal recessive epidermolysis bullosa dystrophica, Christiano et al. (1993) identified a homozygous mutation in the COL7A1 gene (M2798K; 120120.0001). The unaffected mother ...