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12 Cards in this Set
- Front
- Back
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Clinical Erythrokeratoderma Variabilis/ Mendes da Costa syndrome
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Synonym
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Mendes Da Costa syndrome
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Inheritance
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Autosomal dominant; GIB3 gene on I p35
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Prenatal
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DNA analysis for GJB3 or GJB4 mutationif defect in family known
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Incidence
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Rare, more than 200 case reports; majority from northern and middle European ancestry; M=F
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Age at Presentation
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Birth to 1 year old; may develop later in life
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Pathogenesis
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Mutations in GJB3, GJB4 genes encoding for connexin 31, 30.3 respectively; connexins are membrane components in gap junction channels responsible for intercellular communication and signaling; defects in impair epidermal differentiation and the skin’s response to external stimuli
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Clinical
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Skin
Well demarcated, geographic patches of erythema with changing shape and position day to day; increased on face, buttocks, extensor extremities; cold, wind, heat, emotional upset may induce lesions Fixed focal hyperkeratotic plaques; may be generalized with palms and soles involved |
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D/Dx
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Figurate erythema
Symmetrical progressive ertyhtrokeratoderma Psoriasis Parapsoriasis |
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Lab
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None
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Management
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Referral to dermatologist syrnptomatic erythematous patches mask with makeup and
camouflage; mild sedative antihistamines in case of pruritus and burning; avoid skin irritation and triggering factors Hyperkeratotic plaques topical retinoic acid, salicylic acid, lactic acid, and other alpha hydroxy acids in petrolatum Acitretin or isotretinoin (relative low doses) Examine first de ree relatives |
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Prognosis
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Worsens until puberty and then enters a stable, chronic course; normal life span with general health unaffected
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