Epidermolysis Bullosa Simplex With Mottled Pigmentation

Watchlist

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

KRT5, KRT14, NAT9, KRT1, EXPH5

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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Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation.

Epidemiology

Prevalence is unknown but approximately 30 families have been reported to date.

Clinical description

Onset of the disease is usually at birth or in infancy. Blistering is often accompanied by mild nail dystrophy and focal palmoplantar keratoderma, and rarely by milia and mostly affects the limbs and trunk.

Etiology

Most EBS-MP cases are due to a missense mutation (p.P25L) within the KRT5 gene (12q13.13) encoding keratin 5, but rare cases resulting from other mutations in the KRT5 and KRT14 genes have also been reported.

Genetic counseling

Transmission is autosomal dominant and sporadic cases have been reported.

Prognosis

Although the disease can be severely disabling, life-expectancy is normal.