| Symbol
| EBJ2E
|
| Location
| 10q24.3
|
| Name
|
epidermolysis bullosa junctional, non-Herlitz type |
| Other name(s)
|
epidermolysis bullosa junctionalis, DiSentis type
epidermolysis bullosa junctionalis, severe, progressive, nonlethal type
epidermolysis bullosa, generalized atrophic benign |
| Corresponding gene
|
COL17A1
|
| Other symbol(s)
| GABEB, EBJDH, nH-JEB
|
| Main clinical features
|
skin disorder in which blisters occur at the level of the lamina lucida in the skin basement membrane.
non-Herlitz' type is accompanied by a less severe phenotype than Herlitz's type.
blistering skin atrophy, alopecia, nail dystrophy and dental anomalies, tooth enamel hypoplasia |
| Genetic determination
| autosomal recessive |
| Related entries
| . including some milder forms in heterozygotes (forms with intermediate severity between Herlitz form and DiSentis form)
|
| Function/system disorder
| dermatology |
| Type
| disease
|