Epidermolysis Bullosa Simplex Superficialis

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

COL7A1, GTF2H1, NECTIN1, NR1I2, SQSTM1, ATG5, ATP6AP2, ATG7, KHDRBS1, NUP62, DCTN4

Drugs

Allantoin, Allogeneic adipose-derived adult mesenchymal stem cells contained in a fibrin-based bioengineered dermis, Allogeneic human dermal fibroblasts

Allantoin, Allogeneic adipose-derived adult mesenchymal stem cells contained in a fibrin-based bioengineered dermis, Allogeneic human dermal fibroblasts, Allogeneic skin-derived ABCB5-positive mesenchymal stem cells, Bilayer engineered skin composed of keratinocytes (patient autologous) and fibroblasts (donor allogeneic) in a plasma matrix, Diacerein, Dry extract from Betulae cortex (birch bark), Ex-vivo-expanded autologous fibroblasts transduced with lentiviral vector containing the COL7A1 gene, Ex-vivo-expanded autologous keratinocytes transduced with retroviral vector containing the COL7A1 gene, Human dermal fibroblasts cultured on a bioresorbable polyglactin mesh, Losartan, ex-vivo-expanded autologous human keratinocytes containing epidermal stem cells transduced with a COL7A1-encoding retroviral vector, genetically modified replication-incompetent herpes simplex virus-1 expressing collagen VII

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Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized or acral superficial erosions in the absence of blisters.

Epidemiology

Prevalence is unknown but two families have been reported to date.

Clinical description

Onset of the disease is usually at birth or in early infancy. Erosions are usually associated with milia, atrophic scarring and dystrophic nails. Extracutaneous involvement (anemia) is rare.

Etiology

The molecular etiology remains unclear and the causative gene is still unknown. A dominant missense mutation in the COL7A1 gene (3p21.3) encoding type VII collagen has been found in one of the two originally described families, which has thus been reclassified as affected by dominant dystrophic EB.

Genetic counseling

EBSS is inherited in an autosomal dominant manner.