Localized Junctional Epidermolysis Bullosa, Non-Herlitz Type

Watchlist

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

LAMA3, LAMB3, LAMC2, ITGB4, COL17A1, ITGA3, LAD1, DST, COL7A1, EGF, CXCL8, LAMA5, LAMC1, YAP1, EXPH5, PLA1A

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), Human dermal fibroblasts cultured on a bioresorbable polyglactin mesh, Losartan, ex-vivo-expanded autologous human keratinocytes containing epidermal stem cells transduced with a COL17A1-encoding retroviral vector, ex-vivo-expanded autologous human keratinocytes containing epidermal stem cells transduced with a LAMB3-encoding retroviral vector

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Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails.

Epidemiology

Prevalence is unknown. Fewer than 20 cases have been described.

Clinical description

Onset is at birth or soon thereafter. Skin blistering is mainly confined to hands, feet, lower legs and face. Additional findings comprise mild nail dystrophy, dental enamel hypoplasia, and an increased incidence of caries. Primary hair is normal, while axillary and pubic hair can be sparse.

Etiology

Localized non-Herlitz junctional epidermolysis bullosa is caused by mutations in the type XVII collagen gene : COL17A1 (10q24.3).

Genetic counseling

The condition follows an autosomal recessive pattern of inheritance.

Prognosis

Prognosis is generally good.