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Severe generalized recessive dystrophic epidermolysis bullosa
1 OMIM reference -
2 associated genes
58 connected diseases
35 signs/symptoms
Disease Type of connection
Acral dystrophic epidermolysis bullosa
Centripetalis recessive dystrophic epidermolysis bullosa
Dystrophic epidermolysis bullosa pruriginosa
Dystrophic epidermolysis bullosa, nails only
Epidermolysis bullosa simplex superficialis
Generalized dominant dystrophic epidermolysis bullosa
Pretibial dystrophic epidermolysis bullosa
Recessive dystrophic epidermolysis bullosa inversa
Recessive dystrophic epidermolysis bullosa-generalized other
Transient bullous dermolysis of the newborn
Generalized junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa, Herlitz type
Osteogenesis imperfecta type 3
Fetal and neonatal alloimmune thrombocytopenia
Fibronectin glomerulopathy
Hypoplastic amelogenesis imperfecta
Junctional epidermolysis bullosa inversa
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Caffey disease
Dermatofibrosarcoma protuberans
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome, vascular-like type
Ehlers-Danlos / osteogenesis imperfecta syndrome
Familial porencephaly
Familial vascular leukoencephalopathy
High bone mass osteogenesis imperfecta
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 4
Walker-Warburg syndrome
Alpha-1-antichymotrypsin deficiency
Achondrogenesis type 2
Autosomal dominant rhegmatogenous retinal detachment
Autosomal recessive malignant osteopetrosis
Czech dysplasia, metatarsal type
Familial avascular necrosis of femoral head
Familial osteochondritis dissecans
Kniest dysplasia
Legg-Calvé-Perthes disease
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
Nodulosis-arthropathy-osteolysis syndrome
Otospondylomegaepiphyseal dysplasia
Platyspondylic dysplasia, Torrance type
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepimetaphyseal dysplasia, aggrecan type
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia, Kimberley type
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
Torg-Winchester syndrome
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
- Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
- Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
- RDEB generalisata gravis
- RDEB, Hallopeau-Siemens type
- RDEB-sev gen
- Severe generalized RDEB

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: adult
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
COL7A1 Q02388120120
MMP1 P03956120353
Very frequent
- Abnormal fingernails
- Abnormal scarring / cheloids / hypertrophic scars
- Abnormal toenails
- Absent / small fingernails / anonychia of hands
- Absent / small toenails / anonychia of feet
- Anaemia
- Ankyloglossia / lingual synechiae
- Anus / rectum anomalies
- Autosomal recessive inheritance
- Constipation
- Enanthema / aphtosa / aphta / leukoplakia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Follicular / erythematous / edematous papules / milium
- Microstomia / little mouth
- Multiple caries
- Pruritus / itching
- Skin hypoplasia / aplasia / atrophy
- Tracheo-esophageal fistula / esophageal atresia / stenosis
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

- Alopecia
- Anomalies of hands
- Corneal ulceration / perforation
- Foot anomalies
- Late puberty / hypogonadism / hypogenitalism
- Musculo-tendinous retractions
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes

- Anomalies of eyelids, eyelashes and lacrimal system
- Blepharitis / eyelid inflammation
- Ectropion / entropion / eyelid eversion
- Mild visual loss / impaired visual acuity
- Visual loss / blindness / amblyopia