A Case of Bullous Congenital Ichthyosiform Erythroderma, a Rare Pediatric Genodermatosis, in a Newborn
Journal: Austin Journal of Dermatology (Vol.1, No. 4)Publication Date: 2014-08-13
Authors : Millsop JW; Sivamani RK; Lee DC; Konia T; Subramanian N; Fung MA;
Page : 1-3
Keywords : Bullous congenital ichthyosiform erythroderma; Epidermolytic hyperkeratosis; Ichthyosis; Blisters; Newborn;
Abstract
Bullous congenital ichthyosiform erythroderma is a rare autosomal dominant genodermatosis that typically presents in newborn infants. Mutations primarily of keratin 1 or keratin 10 causes, defective keratinization, leading to skin fragility, blistering, and hyperkeratosis. This condition can be difficult to distinguish from other exfoliative and bullous conditions, including staphylococcal scalded skin syndrome. We report a case of bullous congenital ichthyosiform erythroderma in a 12-hour-old infant and discuss the approach to management of the disease as well as the differential diagnoses.
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