Recessive dystrophic epidermolysis bullosa inversa

General Information (adopted from Orphanet):

Synonyms, Signs: EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE
RDEB-I
EBR1 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT, INCLUDED
DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL RECESSIVE
EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE, INCLUDED
RDEB
Inverse RDEB
Dystrophic epidermolysis bullosa inversa
Inverse recessive dystrophic epidermolysis bullosa
Number of Symptoms 63
OrphanetNr: 79409
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

Symptom Information: Sort by abundance 

1
 (HPO:0000112) Nephropathy Occasional [Orphanet] 92 / 7739
2
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
3
 (HPO:0000142) Abnormality of the vagina Frequent [Orphanet] 24 / 7739
4
 (HPO:0000080) Abnormality of reproductive system physiology Frequent [Orphanet] 6 / 7739
5
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
6
 (HPO:0010296) Ankyloglossia Very frequent [Orphanet] 11 / 7739
7
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
8
 (HPO:0100825) Cheilitis Very frequent [Orphanet] 20 / 7739
9
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
10
 (HPO:0100533) Inflammatory abnormality of the eye Occasional [Orphanet] 70 / 7739
11
 (HPO:0000509) Conjunctivitis 47 / 7739
12
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
13
 (HPO:0000559) Corneal scarring 9 / 7739
14
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
15
 (HPO:0000372) Abnormality of the auditory canal Frequent [Orphanet] 49 / 7739
16
 (HPO:0002015) Dysphagia Frequent [Orphanet] 301 / 7739
17
 (HPO:0004057) Mitten deformity 3 / 7739
18
 (HPO:0001367) Abnormal joint morphology Frequent [Orphanet] 53 / 7739
19
 (HPO:0001371) Flexion contracture 220 / 7739
20
 (HPO:0002043) Esophageal stricture 7 / 7739
21
 (HPO:0004378) Abnormality of the anus Occasional [Orphanet] 34 / 7739
22
 (HPO:0002032) Esophageal atresia 19 / 7739
23
 (HPO:0002019) Constipation Occasional [Orphanet] 194 / 7739
24
 (HPO:0010450) Esophageal stenosis 7 / 7739
25
 (HPO:0002575) Tracheoesophageal fistula Frequent [Orphanet] 54 / 7739
26
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
27
 (HPO:0008388) Abnormality of the toenails Frequent [Orphanet] 28 / 7739
28
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
29
 (HPO:0000987) Atypical scarring of skin Very frequent [Orphanet] 58 / 7739
30
 (HPO:0001596) Alopecia 162 / 7739
31
 (HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
32
 (HPO:0200042) Skin ulcer Occasional [Orphanet] 138 / 7739
33
 (HPO:0001056) Milia 24 / 7739
34
 (HPO:0002860) Squamous cell carcinoma 18 / 7739
35
 (HPO:0001030) Fragile skin 25 / 7739
36
 (HPO:0008404) Nail dystrophy 89 / 7739
37
 (HPO:0008069) Neoplasm of the skin 84 / 7739
38
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
39
 (HPO:0001903) Anemia Frequent [Orphanet] 289 / 7739
40
 (HPO:0003394) Muscle cramps Very frequent [Orphanet] 106 / 7739
41
 (OMIM) Decreased staining for collagen VII 3 / 7739
42
 (OMIM) Sublamina densa level of tissue separation beneath basal membrane 5 / 7739
43
 (OMIM) Blistering, recurrent 5 / 7739
44
 (MedDRA:10010984) Corneal abrasion 4 / 7739
45
 (OMIM) Hypotrophic anchoring fibrils 5 / 7739
46
 (OMIM) Loss of nails 3 / 7739
47
 (OMIM) Digital fusion 2 / 7739
48
 (OMIM) Mucosal lesions 3 / 7739
49
 (OMIM) Poor growth due to poor nutrition 2 / 7739
50
 (OMIM) Congenital absence of skin in areas 2 / 7739
51
 (MedDRA:10068058) Nail atrophy 4 / 7739
52
 (OMIM) Lingual adhesions 2 / 7739
53
 (OMIM) Anal blisters 2 / 7739
54
 (OMIM) Albopapuloid lesions may occur 4 / 7739
55
 (OMIM) Oral blisters 2 / 7739
56
 (OMIM) Dystrophic epidermolysis bullosa 6 / 7739
57
 (OMIM) Anemia due to poor nutrition 2 / 7739
58
 (OMIM) Decreased number or absence of anchoring fibrils at dermal-epidermal junction 2 / 7739
59
 (OMIM) Erosions 5 / 7739
60
 (OMIM) Esophageal blisters 2 / 7739
61
 (OMIM) Atrophic scarring, severe 2 / 7739
62
 (HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739
63
 (OMIM) Eyelid ulcerations 2 / 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 ...