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
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.
Resources
Frequently asked questions
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