epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma, BIE, bullous erythroderma ichthyosiformis congenita of Brocq)
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Pathology
- histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis
Genetics
- autosomal dominant
- associated with point mutations in cytokeratin-1 & cytokeratin-10 genes
Clinical manifestations
- skin disorder characterized by widespread blistering & an ichthyotic erythroderma at birth that persists into adulthood
- within a few weeks from birth, erythroderma & blister formation diminish & hyperkeratoses develop