Erythrokeratodermia variabilis Flashcards
(15 cards)
What is the inheritance pattern of erythrokeratoderma variabilis ?
Autosomal dominant, rarely autosomal recessive
GJB3 and GJB4 genes are implicated
Which genes are involved in erythrokeratoderma variabilis and where are they located?
GJB3, rarely GJB4; both on chromosome 1p34.3
Other loci are suspected
What is the recommended prenatal diagnosis method if mutations in the family are known?
DNA analysis
What is the incidence of erythrokeratoderma variabilis?
Rare, >200 case reports; M = F
At what age does this condition typically present?
Birth to 1 year old; may develop later in life
What is the pathogenesis of erythrokeratoderma variabilis?
Mutations in GJB3, GJB4 encode connexins 31, 30.3; impair epidermal differentiation and skin’s response to stimuli
What are the key features of the skin associated with this condition?
Well-demarcated, geographic, erythematous to yellow or brown patches; fine white scale; increased on face, buttocks, extensor extremities; cold, wind, heat, emotional upset may induce lesions
What are some additional skin features related to this condition?
Fixed focal hyperkeratotic plaques; hypertrichosis; glove-like PPK (50%)
List some conditions included in the differential diagnosis.
- Conditions associated with figurate erythema
- Symmetrical progressive erythrokeratodermia
- Psoriasis
- Parapsoriasis
What laboratory data is associated with this condition?
None
What is the management approach for symptomatic erythematous patches?
Referral to dermatologist; mask with makeup and camouflage; mild sedative antihistamines for pruritus and burning
What treatment options are available for hyperkeratotic plaques?
- Topical retinoic acid
- Salicylic acid
- Lactic acid
- Other alpha-hydroxy acids in petrolatum
What systemic treatments may be considered for erythrokeratoderma variabilis?
Acitretin or isotretinoin (relative low doses)
What is the prognosis for individuals with erythrokeratoderma variabilis?
Worsens until puberty, then enters a stable, potentially improving course; normal life span with general health unaffected
