Late-Onset Junctional Epidermolysis Bullosa

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

COL17A1

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

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Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood.

Epidemiology

Prevalence is unknown. 22 patients in 12 families have been reported to date.

Clinical description

Blistering occurs at first around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, knees, along with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries.

Etiology

COL17A1 mutations have recently been described in a family affected with JEB of late-onset.

Genetic counseling

The condition follows an autosomal recessive pattern of inheritance.