Epidermolysis Bullosa Simplex Superficialis

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Retrieved

2019-09-22

Source

Omim

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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Clinical Features

Fine et al. (1989) reported a large 5-generation kindred in which several members had a disorder consistent with autosomal dominant epidermolysis bullosa simplex (EBS). Clinical features included blisters, milia, atrophic scarring, nail dystrophy, and oral and conjunctival involvement. There was not continuous, spontaneous exfoliation, erythema, pruritus, hyperpigmentation, or significant seasonal variation in symptoms, distinguishing the disorder from autosomal recessive peeling skin syndrome (270300). Immunofluorescent mapping of skin biopsies showed variable sized clefts just beneath the level of the stratum corneum. Two patients showed smaller more focal clefts within the lower third of the epidermis. In none of the affected individuals was sub-lamina densa cleavage noted, nor was any diminution of type VII collagen staining noted using the anti-type VII antibody LH 7:2. Transmission electron microscopy revealed no abnormalities within the lower epidermis or at the level of the basement membrane. A single proband from an unrelated family had similar findings. Fine et al. (1989) proposed the term 'epidermolysis bullosa simplex superficialis' (EBSS) to describe this disorder.

In the original large kindred reported by Fine et al. (1989), Martinez-Mir et al. (2002) identified a heterozygous mutation in the COL7A1 gene (G2034R; 120120.0028) which had also been identified in patients with dystrophic EB (DDEB; 131750). Martinez-Mir et al. (2002) concluded that the clinical phenotype in the EBSS kindred studied by them actually represented DDEB, rather than a unique subset of EBS. The proband from the second family reported in the original work (Fine et al., 1989) was not available for study and Martinez-Mir et al. (2002) could not exclude the possibility that rare forms of EBS with superficial skin cleavage may still exist.