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14 Cards in this Set
- Front
- Back
Epidermolysis Bullosa Simplex
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Inheritance
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Autosomal dominant;
very few autosomal recessive kindreds; keratin 5 and 14 gene-on 12q and I 7q, respectively |
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Prenatal
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DNA Analysis
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Incidence
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Approximately 10 to 30 cases per million live births; M=F
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Age at Presentation
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Weber Cockayne first to third decade
Generalized (Koebner) birth to early infancy Dowling Meara birth to first month of life |
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Clinical - Weber Cockayne
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Skin
Palmoplantar bullae, callouses, hyperhidrosis; with/without pain, superinfection; worsening in summer months, warm temperatures |
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Clinical - Generalize (Koebner)
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Generalized (Koebner)
Skin Generalized bullae with/without superinfection; worsening in summer months, warm temperatures Mouth Mucosal erosions (mild) |
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Clinical (Dowling-Meara)
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Dowling Meara
Skin Widespread bu Ilae with "herpetiform" grouping of lesions may have marked severity with increased morbidity, mortality in infancy; nonscarring, postinflamma¬tory hyperpigmentation, milia; palmoplantar keratoderma with age Nails Dystrophy with shedding Mucous Membranes May have blistering, erosions in oral cavity (with/without secondary hoarseness) and esophagus |
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DDx Weber-Cockayne
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Weber Cockayne Pachyonychia congenital
Tinea pedis Dyshidrotic eczema Congenital syphilis |
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DDx Generalized and Dowling Meara
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Generalized (Koebner) and Dowling Meara
Neonatal (HSV) Bacterial sepsis Incontinentia pigmenti Congenital syphilis Bullous impetigo Linear IgA disease |
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Lab
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Skin biopsy for light microscopy Intraepidermal bullae), electron microscopy (clumped tonofilaments in Dowling Meara) and immunornapping with monoclonal antibodies (see junctional and Dystrophic EB, p. 204; 208)
Viral and bacterial cultures DNA analysis with blood, buccal swabs |
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Management
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Referral to dermatologist diagnosis, trauma avoidance, wound care with whirlpool, modified Dakin's solution, topical mupirocin, topical corticosteroids, cool environment with well ventilated leather shoes;
Dowling Meara patients may improve with increased temperature |
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Management
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Referral to podiatry silicone, plastizoate orthotics; thin, white cotton socks to decrease friction and sweat
Admit to neonatal intensive care unite (NICU) if severe blistering in neonate monitor fluids, electrolytes, sepsis |
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Prognosis
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Debilitating with normal life span; al( types tend to blister less with aging
Dowling Meara significant morbidity, mortality in first few months of life |
