Ectodermal dysplasia skin fragility syndrome

Alternate names

Mcgrath syndrome; Ectodermal dysplasia - skin fragility syndrome; Epidermolysis bullosa simplex due to plakophilin deficiency; Ectodermal dysplasia-skin fragility syndrome

Definition

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

Epidemiology

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

Cause

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

Inheritance

Autosomal recessive inheritance, a 25% chance

Transmission is autosomal recessive.

Signs and symptoms

• 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.

NIH genetic and rare disease info

• NIH info on Ectodermal dysplasia skin fragility syndrome

Ectodermal dysplasia skin fragility syndrome is a rare disease.

Resources

Frequently asked questions

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