Junctional Epidermolysis Bullosa Inversa

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

LAMC2, ITGB4, LAMA3, LAMB3, LAMC1

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

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Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina.

Epidemiology

Prevalence is unknown. Four Scandinavian families and a case in England have been reported.

Clinical description

The condition is present at birth. Blistering is usually severe and lesions subsequently localize to folds especially axillae, groins, and perineum. Manifestations include atrophic scarring, nail dystrophy and sometimes milia formation. Extracutaneous manifestations include enamel hypoplasia and dental caries, oral, esophageal and vaginal blisters and erosions.

Etiology

JEB inversa appears to be caused by mutations in the laminin-332 coding gene LAMC2 (1q25-q31).

Genetic counseling

The condition follows an autosomal recessive pattern of inheritance.