Term Name: | bullous congenital ichthyosiform erythroderma |
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Synonyms: | bullous type ichthyosis, ichthyosis bullosa of Siemens, superficial epidermolytic ichthyosis |
Definition: | An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13. |
Ontology: | Human Disease [DOID:0060877] ( DOID:0060877 ) |