Epidermolysis Bullosa Simplex Due To Plakophilin Deficiency

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Retrieved

2021-01-23

Source

Orphanet

Trials

—

Genes

PKP1, DSP

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 due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering.

Epidemiology

Prevalence is unknown but 11 cases have been reported to date.

Clinical description

Onset of the disease is usually at birth with skin blistering and generalized erythema which rapidly regresses. Skin erosions and crusting are associated with dystrophic nails, hypotrichosis or alopecia with absent or sparse eyelashes and eyebrows, palmoplantar keratoderma with painful fissuring, chronic cheilitis with perioral cracking. Occasionally hair may be woolly rather than reduced. Other variable cutaneous findings and symptoms include follicular hyperkeratosis, perianal erythema and erosions, inflammatory scaly plaques in the flexures, and pruritus. Extracutaneous involvement is usually present, typically with growth retardation, and, in some cases, with recurrent infections, chronic diarrhea, tongue fissuring, and blepharitis.

Etiology

EBS-PD is due to mutations in the PKP1 (1q32) gene encoding plakophilin-1.

Genetic counseling

Transmission is autosomal recessive.

Prognosis

The disease is frequently associated with significant morbidity, but life-expectancy does not seem to be affected.