Ectodermal dysplasia skin fragility syndrome

From WikiMD's Medical Encyclopedia

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.

Diagnosis

Treatment

NIH genetic and rare disease info

Ectodermal dysplasia skin fragility syndrome is a rare disease.

Rare and genetic diseases

Rare diseases - Ectodermal dysplasia skin fragility syndrome

A-Z list of rare diseases
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Ectodermal dysplasia skin fragility syndrome

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