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epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma, BIE, bullous erythroderma ichthyosiformis congenita of Brocq)
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
Specific
epidermolytic hyperkeratosis/KRT1 mutation
epidermolytic hyperkeratosis/KRT10 mutation
General
ichthyosis; erythrokeratodermia variabilis
Database Correlations
OMIM 113800
References
OMIM :accession 113800